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CURRICULUM VITAE

Date: Feb 12, 2008

CAROL LYNN GREENE, M.D.

Professor, Departments of Pediatrics and of Obstetrics, Gynecology and Reproductive ScienceUniversity of Maryland School of Medicine.

Director, Clinical Genetics and Metabolism Service, Department of Pediatrics and Co-Director, Adult Genetics Clinic

Medical Director, Masters in Genetic Counseling Training Program, Graduate School, University of Maryland School of Medicine

PERSONAL INFORMATIONBusiness AddressPediatric Genetics737 W. Lombard, Room 199Baltimore, Maryland 21201Phone: 410-328-3335 Fax: [email protected]

Foreign languages: Minimal Spanish, sufficient for some clinical encounters, verbal only.

EDUCATION

1971-1974 B.S. (biology), Stanford University, Palo Alto, California1974-1977 M.D., Albert Einstein College of Medicine, Bronx, N.Y.

POST GRADUATE TRAINING

1977-1980 Pediatric Internship and Residency, Children's Hospital of Los Angeles, Los Angeles, California

1980-1983 Fellow in Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California

CERTIFICATION

1984 American Board of Medical Genetics [#1933]: 1) Clinical Genetics 2) Cytogenetics

1982 American Board of Pediatrics [#27187]

CURRENT AND PRIOR MEDICAL LICENSURE

2003-present Maryland #000610452000-present District of Columbia #MD325671978-present California #G383131987-2003 Colorado #28333

C. Greene C.V. page 1

mailto:[email protected]

1989-1991 South Dakota #28141983-1987 Louisiana #06217R

CURRENT AND PRIOR PROFESSIONAL POSITIONS/EMPLOYMENT

2004-present Professor of Pediatrics and of Obstetrics and Gynecology; Director, Clinical Genetics and Metabolism Service, Department of Pediatrics, UMd School of Medicine; Co-Director, Adult Genetics Clinic, Departments of Pediatrics and of Internal Medicine, UMd School of Medicine; Medical Director, Masters in Genetic Counseling Training Program, Graduate School, UMd School of Medicine

2000-2004 Clinical Professor of Pediatrics, George Washington University School of Medicine; Faculty/Staff Physician in Genetics and Metabolism, Children’s National Medical Center, Washington, D.C. (2000-2003 50% time, 2003-2004 25% time).

2000-2004 Policy Analyst/Medical Officer in Office of Science and Data Policy in the Office of the Assistant Secretary for Planning and Evaluation, Department of Health and Human Services, Washington, D.C. (on contract). (2000-2003 50% time, 2003-2004 75% time). For description of activities at HHS see addendum to CV.

1987-2002 Faculty in Pediatrics, Division of Genetics and Metabolism, University of Colorado Health Sciences Center (UCHSC), Denver, Colorado (Initial rank Assistant Professor [non-tenure track], promoted Professor 1999)

1990-2002 Regular appointment, Graduate Faculty, UCHSC1987-2000 Director, Inherited Metabolic Diseases Clinic, UCHSC and The Children's Hospital

(TCH), Denver1999 (Sabbatical Leave) American Association for the Advancement of Science/American

Society of Human Genetics Legislative Fellow on staff of the Senate Health, Education, Labor and Pensions Committee, Public Health Subcommittee (for details see addendum to CV)

1993-1995 Medical Director, Cytogenetics Diagnostics Laboratory, UCHSC1989-1993 Director, Cytogenetics Diagnostic Laboratory, UCHSC

1983-1987 Assistant Professor, The Human Genetics Program/Hayward Genetic Center, Tulane University School of Medicine, New Orleans, Louisiana

1983-1987 Director, Genetics Clinics at Charity, Children’s and Ochsner Hospitals, New Orleans, Louisiana

1983 July 1 – Sept 30: Interim Partner, Prenatal Diagnosis, Inc., Mountain View, CA

PROFESSIONAL MEMBERSHIPS1994 – present American Medical Association1991 – present American College of Medical Genetics (Founding Fellow)1989 – present Society for the Study of Inborn Errors of Metabolism [International]1988 – present Society for Inherited Metabolic Diseases [North American]1987 – 2000 Mountain States Regional Genetics Network1987 – present American Society for the Advancement of Science1984 – present American Academy of Pediatrics (Fellow)1984 – present American Society of Human Genetics1984 – 1987 Southeastern Regional Genetics Group


HONORS AND AWARDS

1994 – Present Best Doctors in America 1977 Alpha Omega Alpha2007 Listed in Baltimore “Top Docs”

ADMINISTRATIVE SERVICE

Institutional Service

2006-present (Alternate/Back-up) Representative to the School of Medicine Council Committee2005-present Member, Code of Conduct Committee of the University of Maryland Medical Center2004 Member, Search Committee to select Director of Masters in Genetic Counseling

Training Program for Graduate School, University of Maryland School of Medicine2002 Member, Workgroup on informed consent for genetic research, Children’s National

Medical Center, Washington, D.C.1997-present Member, Genetics and Ethics Annual Conference Planning Committee, Department

of Ethics and Humanities and Interdepartmental Division of Genetics, University of Colorado Health Sciences Center

1996-2000 Member (Chair, 1997-2000) Seminar Committee Interdepartmental Division of Genetics, University of Colorado Health Sciences Center

1990-1999 Member, Human Subjects Committee, University of Colorado Health Sciences Center

1989-1999 Member, Ethics Committee, University of Colorado Health Sciences Center and Hospital

1989-2000 Member, Advisory Board for Masters Program in Genetic Counseling, University of Colorado Health Sciences Center

1987-1995 Chair, Seminar Series, Division of Genetics, Department of Pediatrics, University of Colorado Health Sciences Center

National Service

Professional Societies/Organizations: 2004-present Member, Executive Committee of the Public Health Interest Group of the American

College of Medical Genetics (ACMG)2004-present Member, Committee on the Economics of Genetic Services, ACMG2003-present Member, Newborn Screening Committee for Society for Inherited Metabolic

Disorders (SIMD)2002-2006 Representative to National Coalition for Health Professional Education in Genetics

from the SIMD2000-present Board Member SIMD and Chair, Committee on Government and Legislative Affairs,

SIMD; Chair Membership Committee 2005-2007; Program Chair 2007-present 1999-2000 Invited Member, Strategic Planning Task Force, ACMG1994-2004 Member (2001-2004, Chair) Committee on Government and Legislation, ACMG 1999-2003 Member, Committee on Public Health, ACMG 1995-1997 Member, Committee on Public Policy of the SIMD


Scientific Advisory and Other Boards (Professional, Public Health and Lay Groups) and Invited Participation In Other Committees, Work Group, Journals – Selected Examples

2008 Invited participant, workshop “Population-Based Carrier Screening for Single Gene Disorders: Lessons Learned and New Opportunities” Feb 2008 convened by NIH (NHGRI, NICHD and ORD), HRSA, CDC, Genetic Alliance and the ACMG.

2005 - present Appointed to the Clinical Laboratory Improvement Advisory Committee (CLIAC), the federal committee providing advice to the Secretary of the Department of Health and Human Services (DHHS) on standards for clinical laboratories.

2005 - present Invited member (not federally appointed) of the Treatment and Follow-Up Subcommittee for the federal Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (the Committee is advisory to the Secretary of DHHS through the Health Resources and Services Administration); session leader March 2007 conference “Long-Term Follow-up of Newborn Screening: A Framework for Implementation”

2004 Invited participant, Workshop, “Direct to Consumer Advertising of Genetic Tests,” National Human Genome Research Institute

2003 – present Member, Steering Committee and co-leader QA/QC Workgroup for “Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing,” a collaborative effort of CDC, NIH/NHGRI, HRSA, ACMG, American Society of Human Genetics, SIMD and the Genetic Alliance.

2003 Invited participant/panelist, Asthma Working Group, University of Washington Center for Genomics & Public Health, funded by the Centers for Disease Control and Prevention

2003, 2004 Invited participant, conference 2003 (Atlanta) and ongoing work group (April 2004 meeting Florida and November 2004 meeting Los Angeles) on “Quality Control Materials for Genetic Testing,” Centers for Disease Control and Prevention

2003 - 2005 Invited member, Interactivity Foundation Workgroup on “Anticipating Human Genetic Technology”

2003 Invited participant, Workgroup on “Communication: Key to Appropriate Genetic Test Referral, Result Reporting and Interpretation,” Mt. Sinai Hospital and School of Medicine (NY) and the Centers for Disease Control and Prevention

2002 Co-convener, special subcommittee on future research directions, United Mitochondrial Disease Foundation

2002 Co-chair, registry/database development committee, United Mitochondrial Disease Foundation

2002 Invited participant, Workgroup on “Challenges for the Future: Newborn Screening State Policies and Procedures,” University of California, Los Angeles School of Medicine and the Health Resources and Services Administration

2002 Invited participant, Summit of the Association of State and Territorial Health Officers and Chronic Disease Directors on “Genomics and Chronic Disease,” Centers for Disease Control and Prevention

2001-2003 Invited Member, Working Group on American Indian and Alaskan Native issues in genetic testing project (supported though an NIH/National Human Genome Institute Ethical, Legal and Social Issues Program grant to Paul Spicer, University of Colorado Health Sciences Center)

2000-2003 Member-at-large, Genetics Advisory Committee of the National Newborn Screening and Genetics Resource Center (a Health Resources and Services Administration supported national program)


1996-present Member, Medical and Scientific Advisory Board, National United Mitochondrial Disease Foundation

1996-2000 Member, Scientific Advisory Board, National Metabolic Information Network 1987-1994 Chair, National Data Base Committee, Neurofibromatosis Foundation

Regional Service

2005 Invited member, Workgroup on Regional Distribution of Genetic Services for the New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services

1987-2000 Member, Newborn Screening Committee, Mountain States Regional Genetics Group 1987-1994 Member, Finance and Legislature Committee, Mountain States Regional Genetics

Group

State and Local Service

1995-1999 Member, Committee on Policy and Legislation, Colorado March of Dimes1987-2000 Member (1993-2000 Chair), Colorado State Newborn Screening Advisory

Committee Reviewer

2004 National Coalition for Health Professional Education in Genetics abstracts for annual meeting

2001 American Society Human Genetics abstracts for annual meeting2000-2004 Health Resources and Services Agency grant reviews 1999-present Grant applications to United Mitochondrial Disease Foundation1995 NIH site visit/reviewer Pediatric Clinical Research Center1990 Colorado March of Dimes invited reviewer grant applications1986-present Occasional reviewer of manuscripts for Pediatrics, J. Pediat., Am J. Medical

Genetics, J. Inherit Metabolic Disease, etc.

TEACHING SERVICE – SELECTION/SUMMARY

Trainees in Genetics and Candidates for Degrees/Certification

Primary responsibility for genetic fellows at UCHSC: Georgianne Arnold, M.D., 1989-1991 and Janet Thomas, M.D., 1993-1996. Both are pursuing academic careers in genetics (Dr. Arnold at Rochester, N.Y., and Dr. Thomas at UCHSC)

Substantial oversight but shared responsibility for genetic fellow Hanna Mandel, M.D., 1984-1986 (Tulane); and at UCHSC for Anthony Luder, M.D., 1987-1989, Jose Abdenur, M.D., 1991-1992, Elaine Spector, Ph.D., 1991-1993, and Alan Kenien, M.D., 1991. Drs. Mandel and Luder are pursuing academic careers in genetics in Israel (Dr. Luder also chairs a Department of Pediatrics); Dr. Abdenur is pursuing an academic career and recently moved from Argentina to direct the biochemical genetics program in Orange County, Calif., Dr. Kenien continues clinical and academic practice of endocrine and metabolic disease in North Dakota, and Dr. Spector directs the DNA diagnostic laboratory at UCHSC.

Thesis Committees: Nancy Gegen, Intrauterine Constraint and Risk of Craniosynostosis. MSPH 1991.


1988-2000: Master Final Examination Committee: Ellen Allen, Jacqueline Ann Avila, Deborah Balcom, RoseAnn Bellotti, Brenda Bier, Rachel Bouley, Dan Brekken, Sibylle Caldwell, Kathleen Christensen, Nancy Crow, Mary Dewey, Jane Fettig, Shawnia Forrester, Elena Genelev, Cindy Hall, Yvonne Hulsebos, Smita Kabadkar, Chris McQuire, Anne Miner, Katherine Moran, July Murphy, Carol O'Brien, Kathleen Patchell, Susan Poulson, Gina Prochaska-Graf, Nancy Rome, Susan Sheley, Kristina Roser, Rachel Slaugh, Alexander VanRiper, Maura Walsh

2005-present: Master in Genetic Counseling Final Examination Committee – one to two candidates each year.


Classes and other formal teaching responsibilities at University of Maryland School of Medicine, Baltimore, Maryland; 2004 – present

Human Genetics Course # 728 “Clinical Genetics I”; required for first year students studying for Masters in Genetic Counseling or for Masters or Doctoral Degree in Human Genetics and for fellows in Maternal-Fetal Medicine (7 students 2004-5). Responsible for entire course including set curriculum, write/administer and grade exams, and give 25-33% of lectures.

Human Genetics Course # 731 “Clinical Genetics II”; required for first year students studying for Masters in Genetic Counseling (5 students 2004-5). Responsible for entire course including set curriculum, write/administer and grade exams, and give 25-33% of lectures.

Core lectures in genetics to Pediatric Residents; required for Pediatric Residents. Responsible for determining agenda and coordinate speakers, and provide or co-teach 8 to 10 of the approximately 12 lectures over a 2 to 3 year cycle (some topics repeat every two and some every three years; topics include inheritance; clinical genetics; emergency and office-based approaches; dysmorphology and birth defects; metabolic disorders; genetics of mental retardation; genetic testing; and ethical issues in genetics)

Cell and Molecular Biology course for first year medical students; responsible for two lectures [“Clinical Genetics” and “Non-Mendelian Inheritance”], for two clinical correlation sessions, and for participation in 3-5 small group sessions.

Lectures in other HGEN courses include 4-5 lectures in HGEN 602 and presentations in other courses including “Syndromes in Cancer” and “Genetics and Law”

Regular lectures to the 3rd year medical students on pediatric rotation.

Classes and other formal teaching responsibilities at University of Colorado Health Sciences Center, Denver, CO; 1987-1999

Biophysics, Biochemistry and Genetics Course # 6624. Inherited Metabolic Diseases course for 15-20 Masters and Post Doc. Course was given every 2yrs, for a full quarter, with weekly classes of 2 hours each. Responsible for entire course and gave 60-75% of the lectures.

Biophysics, Biochemistry and Genetics Course # 5001. Genetics course for all freshman medical students. Course was given yearly. Responsible for 2hrs lecture to entire class and 5hrs demo to small groups.

Regular lectures in didactic series for 3rd year medical students on pediatric rotation; 10-12 per group. Responsible for 1 hr presentations (solo or with colleague) 6-8x/yr on basic clinical genetics.

Regular lectures in pediatric residents core lecture series (also attended by some faculty and by rotating family practice residents and third and fourth year medical students) with audience typically about 30 for each talk. Responsible for covering 3-4 required topics and occasional additional topics, presented in two-year cycles. Each one-hour lecture was presented twice (once at THC and once at Denver General Hospital). Regular topics presented were emergency presentation and management of inborn errors of metabolism, inborn errors of metabolism in the pediatric office, and general issues in newborn screening; occasional topics were specific classes of inborn errors of metabolism (e.g. lysosomal storage disease) or other more specific clinical situations (e.g. inborn errors of metabolism in the acutely ill neonate).

Faculty 1997 for freshman ethics course. Co-leader for discussion group of 8 students and graded performance based upon participation and written assignment.


Classes and other teaching Tulane University School of Medicine, New Orleans, LA; 1983-1987

Regular lectures at Tulane in basic genetics course for medical students 1985-7. Topics covered ranged from basic principles of genetics to clinical applications.

1987 shared the administrative responsibilities for basic genetic course for medical students.

Conferences, lectures and seminars 1984-2004

1984 – 2004: Children’s National Medical Center, University of Colorado Health Sciences Center; Tulane University School of Medicine: Clinical conferences for pediatric residents &/or neonatal fellows, ER trainees, OB/GYN trainees, nurses, etc. Activities included lecturing and/or participation in morbidity and mortality conferences on selected topics (e.g. metabolic disease diagnosis, metabolic emergency, general genetics, syndromes and dysmorphology) (2-10X/yr)

1998: University of Colorado Health Sciences Center, guest faculty to medical students ethics club (a group of approx 20 students) to discuss genetics.

1987 – 2000: University of Colorado Health Sciences Center “Fellows” Seminar”; for 4-8 medical genetics fellows and postdoctoral trainees. Created and maintained series that ran in two year cycles; led discussions on topics in human genetics and study group for genetics board examinations

1987 – 2000: University of Colorado Health Sciences Center Genetics Seminars – activities relating to two academic seminar series open to attendance across UCHSC and the medical and scientific community.

o Proposed, developed and coordinated seminar series for the Division of Genetics and Metabolism/Department of Pediatrics, 1987-1995. As part of series, required to present one seminar yearly on various topics.

o In 1995, when the seminar series became part of the interdepartmental Human Medical Genetics Program, continued on seminar coordinating committee (and 1996 – 2000 committee chair) for the series.

1984 – 2000: Pediatric Grand Rounds at University of Colorado Health Sciences Center and Tulane University School of Medicine (typical academic seminar series open to attendance across the medical school and clinical medical community). As faculty, required to present approximately every three to four years on new work or review of topics of value to pediatric community. Presentations included cost-benefit of treatment of metabolic disease, trimethylaminurea, newborn screening.

1985 – 1987: Tulane University School of Medicine ethics seminar series. Series initiated by pediatric residents for residents and faculty; three to six faculty and four to eight residents and nurses met approximately monthly for two years. As coordinator and co-leader (selected by pediatric residents and faculty) responsibilities included selection of topics and reading materials, and leading/facilitating discussions.

Clinical supervision and other mentoring

Mentoring high school student Kelsey Tyssowski in the Howard County Public School intern-mentor program for gifted and talented students; from 2005 to present she has observed and assisted with various clinical support activities and she worked on a research project with the office of the Maryland Medical Examiner (see abstracts)

Department of Health and Human Services: Supervising projects of and/or mentoring summer Truman Scholarship Fellows 2000, 2001, 2002, and 2003.


Children’s National Medical Center: Shared clinical responsibility for NIH MD fellows and PhD postdoctoral clinical fellows in metabolic clinic for 1 to 3 month periods.

University of Colorado Health Sciences Center - Supervised trainees’ clinical experience. Responsible for Masters in Genetic Counseling candidates assigned full time to the

Inherited Metabolic Disease (IMD) clinic each quarter. Each year, one to two Ph.D. postdoctoral students (either studying towards certification

in biochemical and/or molecular genetics or postdoctoral students of ethics) spent varying time on clinical service -- ranging from just one or two visits each, to regular attendance at clinic over 3 to 12 months.

2-4 medical students/year elected to spend several days or weeks in the IMD Clinic. M.D. trainees in the IMD clinic (not including genetics fellows who are described above)

included pediatric residents assigned to rotate through the clinic for one to two days; pediatric residents who elected to spend two to four weeks in the clinic; and pediatric neurology residents who were required or elected to spend two to 12 weeks in the IMD Clinic.

Mentoring/advising pediatric residents: At Children’s National Medical Center - selected by resident Emily Doherty, M.D. as

faculty support/mentor for project 2003 to develop educational tools for residents about inborn errors of metabolism. Dr. Doherty is now a genetics fellow at NIH/NHGRI.

At Tulane University School of Medicine - Hans Anderson, M.D., Percy Ivy, M.D., Patrice Whistler, M.D. Dr. Anderson is now Associate Professor in Genetics and Pediatrics at Tulane and Dr. Ivy is a pediatric oncologist managing new drug discovery projects at NIH/NCI, and Dr. Whistler is in private practice of pediatrics.

At University of Colorado Health Sciences Center/The Children’s Hospital - Ellie Rosenthal, M.D., Debbie Rolfson, M.D., Regina Caputo, M.D. ; Dr. Rosenthal is in private practice of pediatrics.

1987-1993 participated in pediatric physical diagnosis teaching to 3rd year medical students and served as pediatric ward attending, supervising residents, interns and medical students on ward team (typically 1 month/yr).

Teaching activities in other training programs Internal Medicine Residents’ Core Lecture Maryland General Hospital, Baltimore (affiliated with

UMMS) August 20, 2007 on “Genetics in Your Office, on the Wards and in the ER” Internal Medicine Residents’ Core Lecture Sinai Hospital, Baltimore (affiliated with Johns

Hopkins) May 25, 2007 on “Genetic Diagnosis and Testing in Your Office: Policy & Practice” Internal Medicine Residents’ Core Lecture Sinai Hospital, Baltimore (affiliated with Johns

Hopkins) May 24, 2006 on “Genetics in Your Office, on the Wards and in the ER” Neurology Residents and Fellows core lecture University of Maryland Department of Neurology,

“Genetics in Your Neurology Office, on the Wards and in the ER” (with Jessica Rispoli, MGC, CGC) April 26, 2006.

Union Memorial Hospital Dept of Internal Medicine Core Conference to residents – “Genetics in Your Office, on the Wards and in the ER” April 24, 2006.

Orthodontic-Orthognathic Surgery Course of the Departments of Oral and Maxillofacial Surgery and of Orthodontics, for residents and fellows of the University of Maryland Schools of Dentistry and of Medicine, “Craniofacial Anomalies: Genetics in Your Office” April 12, 2006.

Internal Medicine Residents core lecture University of Maryland Department of Medicine, “Genetics in Your Office, on the Wards and in the ER” (with Elizabeth Streeten, M.D.) March 6, 2006.

Newborn Nurse Practitioner Training Program, University of Maryland School of Nursing, April 27, 2005 – “Genetic and Metabolic Disease in the NICU”


Internal Medicine Residents’ Core Lecture Sinai Hospital, Baltimore (affiliated with Johns Hopkins) April 6, 2005 on “Genetics in Your Office, on the Wards and in the ER”

Guest lecturer (1hr) on clinical presentations for NIH fellows and postdoctoral trainees in biochemical genetics 2/2001

1987 – 2000: Invited presentations on metabolic disease (newborn screening, acute presentation of metabolic disease, metabolic disease in primary care M & M); Colorado pediatric and family practice training programs (Fitzsimmons, Mercy Hospital, and AF Williams) and clinical programs (Memorial and Penrose Hospitals, Colorado Springs; Poudre Valley Hospital, Ft. Collins; Boulder Community Hospital, Boulder; Presbyterian St. Lukes Hospital, Denver; St. Joseph's Hospital, Denver; Porter Hospital, Denver; Rose Medical Center, Denver; Evans AFB, Colorado Springs. Typically 4-8 invited presentations/year.

Neurology Board Review Course (Osler) 1995 - Genetics of neurologic disease.

GRANT SUPPORT:

Grants:2007-2010 Screening for Heritable Disorders in Children: Efficacy from a Family/Consumer

Perspective: PI for UMMS subcontract to Genetic Alliance for a HRSA cooperative agreement. Total funds to UMMS: Y1- $128,636, Y2 - $152,794, Y3 - $163,993

2005-2010 Collaborator on CDC cooperative agreement, to develop a resource for information about single gene disorders. 20% salary. The primary contractor is the Genetic Alliance and Miriam Blitzer, Ph.D. is PI for the subcontract at the UMMS.

1998-2000 Pediatric CRC (University of Colorado) support (approximately $5,000) for study: “Does Twinning Influence the Reliability of the Thyroid Newborn Screening Test?”

1988-1989 March of Dimes ($5000). “Management of Disorders of Pyruvic and Lactic Acid”

Other Funding: Awards and Contracts and Donations1999 American Society of Human Genetics/American Association for the Advancement of

Science Congressional Fellowship. Competitive award provided one half salary for one year.

1994-2000 Colorado Department of Health (contract: ranges $225,000-$252,000/year) Title: CDH/Metabolic [contract created as a result of Col HB 94-1078; described in legislative advocacy activities]. Contract provided salary support for staff in the IMD Clinic to deliver services to patients and families with inborn errors of metabolism for which Colorado screens newborns.

1993-1999 Private donations for support of clinical metabolism service. With assistance of TCH Foundation and Inherited Metabolic Disease Clinic staff, raised $20,000 to $150,000/yr in private donations. (Note the two highest years were achieved with especially large gifts through the TCH Foundation using materials jointly developed for fund raising).

1993-1995 Oklahoma, H.A. Chapman Institute (contract: ~$3,000-$10,000/year). Title: H.A. Chapman/Metabolic. Provided clinical service and teaching to Tulsa Oklahoma Medical School H.A. Chapman Institute for genetics service and training (provided clinics 4-6x/year in Oklahoma and interim telephone consultation).

1989-1993 Colorado Department of Health (contract: $28,273/year). Title: Cytogenetics. Provided support for clinical services for uninsured patients.

PUBLICATIONS


Journals: Peer Reviewed1. Gibson KM, Sweetman L, Nyhan WL, Page TM, Greene CL and Cann HM: 3 Hydroxy-3-methylglutaric aciduria: A new assay of 3-hydroxy-3-methylglutaryl-CoA lyase using high performance liquid chromatography. Clin Chim Acta 126:171-181, 1982.

2. Greene CL, Cann HM, Robinson BH, Gibson DM, Sweetman L, Holm J and Nyhan WL: 3-hydroxy-3-methyl-glutaric aciduria. J Neurogenet 1:165-173, 1984.

3. Greene CL, Pitts W, Rosenfeld R and Luzzatti L: Sex reversal in the Smith-Lemli-Opitz syndrome: Pathologic and endocrine evaluation. Clin Gent 25:366-372, 1984.

4. Greene CL, Wilson A and Shapira E: Prune belly syndrome and heart defect in one of monozygotic twins following exposure to Tigan and Bendectin. Acta Genet Med Genello (Roma) 34:1010-104, 1985.

5. Gregory P, Greene CL, Shapira E and Wang N: Alterations in the time of X chromosome replication induced by 5-azacytidine in a patient with 48 XXXY/47 XXY. Cytogenet Cell Genet 39:234-236, 1985.

6. Amendt B, Greene CL, Sweetman L, Cloherty J, Shih V, Moon A, Teel L and Rhead W: Short-chain acyl-CoA dehydrogenase deficiency: Clinical and biochemical studies in two patients. J Clin Invest 79:1303-1309, 1987.

7. Greene CL, Blitzer MG and Shapira E: Inborn errors of metabolism and Reye syndrome: Differential diagnosis. J Pediatric 113(1):156-159, 1988.

8. Gibson KM, Brea J, Kaiser K, Nyhan WL, McCoy EE, Ferreira P, Greene CL, Blitzer MG, Shapira E, Reverte F, Conde C, Bagnell P and Cole DEC: 3-Hydroxy-3-methylgulatryl-coenzyme A lyase deficiency: Report of five new patients. J Inher Metab Dis 11:76-87, 1988.

9. Luder AL, Davidson AD, Goodman SI and Greene CL: Transient nonketotic hyperglycinemia in neonates. J Pediatric 114:(6):1013-1015, 1989.

10. Luder AL, Yannicelli S, Greene CL: Normal growth and development with unrestricted protein intake after severe infantile propionic acidemias. J Inher Metab Dis 12:307-311, 1989.

11. Luder AL and Greene CL: Maternal phenylketonurea and hyperphenylalaninemia: Implications for medical practice in the United States. Am J of Ob Gyn 161(5):1102-1105, 1989.

12. Nord A, vanDoorninck WJ and Greene CL: Developmental Profile of Patients with Maple Syrup Urine Disease. J Inher Metab Dis, 14, 881-889, 1991.

13. Davidson-Mundt A, Luder AS, Greene CL: Hyperuricemia in Medium Chain Acyl-CoA Dehydrogenase Deficiency. J Peds, 120:444-6, 1992.

14. Mazzocco MMM, Yannicelli SY, Nord AN, Davidson-Mundt AJ, Greene CL, Pennington BB: Cognition and Tyrosine Supplementation Among School Age Children with Phenylketonuria. Am J Dis Child, 146:1261-1264, 1992.


15. Friedman JM, Birch P, Greene CL, NNFF International Database Participants. National Neurofibromatosis Foundation International Database. Am J Med Gen, 45:88-91, 1993.

16. Acosta PB, Greene CL, Yannicelli S, Korson M, Rohr F, Hooper L, Williams J and Mofidi S. Nutrition Studies in Treated Infants with Phenylketonuria Int Peds, 8:63-73, 1993.

17. Mazzocco MMM, Nord A, Kovar C, Greene CL, vanDoorninck WJ, Pennington B. Cognitive Development Among Children with Early Treated Phenylketonuria. Devel Neuropsych, 10:133-151, 1994.

18. McDowell G, Blitzer MJ and Greene CL. Variable Expression in Siblings with Hurler Syndrome and San Filipo A Syndrome: Implications for Evaluation of Treatment. Am J Med Gen 47:1092-1095, 1993.

19. Citron BA, Kaufman S, Milstein S, Naylor EW, Greene CL and Davis MD. Mutation in the Carbinolamine Dehydratase Gene Leads to Mild Hyperphenylalaninemia with Deficient Co-factor Metabolism. Am J Hum Gen 53:768-774, 1993.

20. Arnold GL, Greene CL and Goodman SI. Molybdenum Co-factor Deficiency. J Peds 123:595-598, 1993.

21. Alderman BW, Bradley CM, Greene CL, Fernbach S, Baron AE. Increased Risk of Craniosynostosis with Maternal Cigarette Smoking During Pregnancy. Teratology 50:13-18, 1994.

22. Bradley CM, Alderman BW, Williams MA, Chectsoway H, Fernbach SK, Greene CL, Bigelow PL and Reif JS. Parental Occupations as Risk Factors for Craniosynostosis in Offspring. Epidemiology :306-310, 1995.

23. Alderman BW, Zamudo S, Baron AE, Joshua SC, Fernbach SK, Greene CL, Mangione EJ. Increased Risk of Craniosynostosis with Higher Antenatal Maternal Attitude. Inter Journal of Epidemiology. 24(2):420-426, 1995.

24. Alderman BW, Fernbach SK, Greene CL, Mangione EJ, Steslien AI, Ferguson WF. Diagnostic Practice and the Prevalence of Craniosynostosis in Colorado. Arch Ped and Adol Med. 151(2):159-164, 1997.

25. Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schananen C, Tint GS, Salen G. Treatment of Smith-Lemli-Opitz syndrom: results of a multicenter trial. Am J Med Gen 68(3): 311-4, 1997.

26. Gardner JS, Guyard Boileau B, Alderman BW, Fernbach SK, Greene CL and Mangione EJ. Maternal exposure to prescription and non-prescription pharmaceuticals and drugs of abuse and risk of craniosynostosis. Int J of Epidemiology 27(1): 64-7, 1998.

27. Chamberlin ME, Ubagai T, Mudd SH, Thomas J, Pao VY, Nguyen TK, Levy HL, Greene C, Freehauf C, and Chou JY. Methionine Adenosyltransferase I/III Deficiency: Novel Mutations and Clincal Variations. Am J Hum Gen. 66(2): 347-55, 2000.


28. Thomas JA, Bernstein LE, Greene CL and Koeller DM. Apparent decreased caloric requirements in children with organic acidemias: preliminary observations. J Amer Dietetic Assoc. 100(9): 10074-6, 2000.

29. Wolf B, Freehauf CL, Thomas JA, Gordon PL, Greene CL and Ward JC. Markedly elevated serum biotinidase activity helps diagnose Glycogen Storage Disease Type Ia. J Inher Metab Dis 26: 805-809, 2003.

30. Chen B and total of 36 authors including Greene CL as a middle author. Developing a Sustainable Process to Provide Quality Control Material for Genetic Testing. Genetics In Medicine 7(8): 534-549, 2005.

31. Grosse SD, Khoury MJ, Greene CL, Crider, KS and Politt, RJ. The Epidemiology of Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD): An Update. Genetics in Medicine, 8(4):205-212, April 2006.

32. Braverman N, Matos C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Nino M. Clinical and Molecular Analysis of Arylsulfatase E in Patients with Brachytelephalangic Chondrodysplasia Punctata. In press, American Journal of Medical Gentics.

33. Kemper AR, Boyle CA, Aceves J, Dougherty D, Figge J, Hinman AR, Greene CL, Kus C, Miller J, Therrell B, Lloyd-Puryear M, van Dyck PC, Howell RR. Long-Term Follow-Up After Diagnosis Resulting From Newborn Screening: Statement of the US Secretary of Health and Human Services Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. In Press for Genetics in Medicine Journals and Other Publications – Invited Reviews [Refereed by editor, not peer refereed] 1. Goodman SI and Greene CL: Inborn Errors as Causes of Acute Disease in Infancy" in Advances in Pediatrics. Seminars in Perinatology, Vol 15, No 1, Supp 1 (Feb), 1991 pp 31-34.

2. Goldberg GR and Greene CL. Update on Inborn Errors of Metabolism: Primary Lactic Acidemia. J Ped Health Care 6:176-181, 1992.

3. Goodman SI, Greene CL: "Metabolic Disorders of the Newborn." Peds in Review, 15(9):359-365, 1994.

4. Greene CL and Goodman SI. Catastrophic metabolic encephalopathies in the newborn period: Evaluation and management. Clinics in Perinatology, 24, No. 4; 773-786, 1997.

Book Chapters

1. Greene CL, Thomas J and Goodman SI: "Inborn Errors of Metabolism". In: Current Pediatric Diagnosis and Treatment, 10th, 11th, 12th, 13th, 14th, 15th, 16th and 17th Editions, Ed. Hay et al, 1014-1038, Appleton and Lange Publishers, 2005.

2. Yannicelli S and Greene CL: "Nutrition Therapies for Inborn Errors of Metabolism". In: Neonatal Nutrition and Metabolism, 507-542, Mosby Year Book Medical Publisher, 1991.


3. Greene CL: "Inborn Errors of Metabolism in the Neonate". In: Pediatric Decision Making 2nd, 3rd

and 4th Editions, Ed. S. Berman, 504-505, Mosby, 2003.

4. Greene CL: "Inborn Errors of Metabolism". In: Pediatric Decision Making, 3rd and 4th Editions, Ed. S Berman, 506-509, Mosby, 2003.

5. Thomas J, Greene CL and Cohn R: “Lysosomal Storage, Peroxisomal and Glycosylation Disorders and Smith Lemli Opitz Presenting in the Neonate”. In: Avery's Diseases of the Newborn, WB Saunders Co, Eds. Taeusch, Ballard and Gleason, 7th and 8th Editions, 258-288, 2004.

6. Greene CL and Yudkoff M: “Disorders of Lysosomal Storage”. In: Saunders Manual of Pediatric Practice, ed. L. Finberg, 1st and 2nd edition (2nd edition with M Yudkoff), 245-253, WB Saunders, 2002

7. Thomas J and Greene CL: “Newborn Screening”. In: Pediatric Decision Making, 4th Edition, Ed. S Berman, 510-515, Mosby, 2003.

8. Greene C: “Evaluating for Genetic Disease”. In: Pediatric Decision Making, 4th Edition, Ed. S Berman, 486-489, Mosby, 2003.

9. Tsai A and Greene C: “Birth Defects and Dysmorphic Features”. In: Pediatric Decision Making, 4th Edition, Ed. S Berman, 490-497, Mosby, 2003.

Abstracts (Published/Presented)1. Greene CL, Cann H, Milstein S, Kaufman S, Faull K and Barchas J: Treatment of hyperphenylalaninemia V with tetrahydrobiopterin and neurotransmitter precursors. Ped Res 18:221, 1984 (platform presentation to SPR 1984).

2. Blitzer M, Greene CL, Bronfin D and Shapira E: 3-hydroxy-3-methylglutaric aciduria presenting as Reye syndrome. Am J Human Gen 37(4):46A, 1985.

3. Bronfin D, Greene CL and Storer J: Linear Nevus Syndrome: Investigation of atypical case and comparison with neurocutaneous syndromes. Am J Hum Gen 37(4):47A, 1985.

4. Cerillo M, Greene CL and Varela M: Karyotype-phenotype correlation: Chromosome 6 Region q13q16. Am J Hum Gen 37(4):49A, 1985.

5. Greene CL, Anderson H, Belizaire J and Shapira E: Malformations and miscarriage in a family: Dominant inheritance or chromosomal rearrangement? Am J Human Gen 37(4):56A, 1985.

6. Greene CL, Moncada G and Hendel P: Variable expression of the Treacher Collins gene in an extended inbred Louisiana Acadian family. Am J Hum Gen 39(3):63A, 1986. (Platform presentation.)

7. Greene CL, Male W, Coleman S, Ohrlich M and Gordon R: Lisch nodules in an unselected population: Frequency and usefulness as an indication of NF. Invited platform presentation to 1986 NF clinical conference. Ped Res 21(4/2):227A.

8. Mandel H, Africh D, Miller J, Willis J, Greene CL, and Shapira E. Incidence of abnormal organic acid metabolites in patients with spinal muscular atrophy. Peds Res 21(4/2):493A.


9. Greene CL, Yannicelli S and Luder AS: Infantile severe propionic acidemia with normal outcome on unrestricted diet. Am J Human Gen 43(3):7A, 1988.

10. Luder AS, Davidson AJ, Goodman SI and Greene CL: Transient non-ketotic hyperglycinemia in neonates. Am J Hum Gen 43(3):12A, 1988.

11. Greene CL, Luder A and Nyhan W. Primary lactic acidosis and William syndrome. Proceedings of the Greenwood Genetic Center 9:82 1990. (Platform presentation at the 1990 International David Smith Meeting).

12. Cowan TM, Greene CL, Gibson KM and Blitzer MG: Effects of clinical and biochemical heterogeneity on the diagnosis of 3-hydroxy-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency. Am J Hum Gen 45(4)4A.

13. vanDoorninck WJ, Nord A and Greene CL: Age of dietary initiation and outcome at middle childhood in Maple Syrup Urine Disease. Am J Hum Gen 45(4)12A, 1989.

14. Greene CL: Gestational age evaluation in the dysmorphic neonate: Errors in the Dubowitz assessment. Am J Hum Gen 45(4)46A, 1989.

15. Carver TD, Luder AS, Greene CL and Goodman SI. Recognition of previously undiagnosed maternal metabolic disease associated with seizures, microcephaly and mental retardation in children. Ped Res 27(4/2):130A 1990.

16. Yannicelli S, Mazzocco MM, Pennington BF, Nord AM, vanDoorninck W, Greene CL and Davidson AJ. The effect of dietary tyrosine supplementation on cognitive performance of children with early treated PKU. Am J Gen 47(3):171A, 1990.

17. Davidson A, Naylor E and Greene CL. Dominant inheritance of a peripheral biopterin synthesis defect. Am J Hum Gen 47(3):154A, 1990.

18. McDowell GA, Cowan TM, Greene CL and Blitzer MG. Intrafamilial clinical variability in lysosomal storage disease: Implications for studies of treatment. Am J Hum Gen 47(3):163A, 1990.

19. Greene CL. Maternal phenylalaninemia and medical practice. (Invited presentation to the Western Regional Maternal PKU Collaborative Study Meeting 1991.).

20. Greene CL and Manchester D. A New Dysmorphic Syndrome with Brain Dysgenesis and Abnormal Pyruvate Metabolism. Proceedings of the Greenwood Genetics Center, 10:158, 1991. (Platform presentation 1991, David Smith Workshop.)

21. Christian B, Wheeler M, Greene CL, Spector E. Failure of Amniocentesis to Demonstrate (18p) Mosaicism in a Case Identified by CVS and Confirmed in Tissue. Am J Human Gen 51:A407, 1992.

22. Vaquero-Solans C, Yannicelli S, Ijoa S, Zeisel S, Greene CL, Fennessey P. Dietary Choline Restriction in the Nutrition Support of Trimethyaminurea. Soc for Inherited Metab Diseases, 1992. J. Amer Dietetic Assoc, A37, 1992.


23. Thomas J, Bernstein L, Koeller D, Greene CL. Apparent Decreased Energy Requirement in Patients with Organic Acidemias. Soc for Inherited Metabolic Disorders, 1994.

24. Irons M, Elias ER, Abuelo D, Bull MS, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, and Salen G. Treatment of Smith Lemli-Opitz Syndrome: Results of Multi Center Trial, Am J Hum Gen, 57:A20 1995. (Platform presentation. American Society of Human Genetics.)

25. Greenberg CR, Booth FA, DeGroot W, Reggin JD, Greene CL, and Goodman SI. Intracranial Hemorrhage and Glutaric Acidemia Type I (GAI) - A New Association. Soc. Ped Res 1995.

26. Chamberlin ME, Ubagi T, Mudd SH, Pao VF, Nguyen TK, Greene CL, Thomas JA, Freehauf C and Chou JY. Novel mutations in the methionine adenosyltransferase IA gene that cause isolated persistant hypermethioninemia. Am J Hum Gen 61/4: A249, 1997.

27. Johnson JA, Greene CL, Yu C, Chen B. Assessing Availability of Diagnostic Genetic Tests for Screen Positive Infants Following Newborn Screening. (Poster presentation at APHL meeting October 2005, poster 43, https://www.aphl.org/docs/nbs_program_final.pdf)

28. Atzinger C, Greene C, Reddy K. Deletion 2q37.3 in a prenatal case followed for over 5 years: Review of the literature to trace the natural clinical history for genetic counseling and clinical monitoring. Poster presentation at ASHG meeting Oct 2005, poster 2249, http://www.ashg.org/cgi- bin/ashg05s/ashg05

29. Orfanelli L, Greene C, Glass P, Gaillard WD, Vezina LG, Issacs J, Higgs J, Tuchman M, Dunn S, Berry GT Neurological outcome in a patient with a null ornithine transcarbamylase genotype following liver transplantation at 6 weeks of age. Poster presentation at the 10th International Congress of Inborn Errors of Metabolism (ICIEM), Tokyo, Japan, September15, 2006.

30. Weaver M, Reed K, Greene C, Blitzer M, Furlong P, Clapp K, Terry S. Evidence Based Information: Lessons learned from Fragile X and Duchenne/Becker Muscular Dystrophy. Poster presentation at the ASHG meeting Oct 2006, poster 952, http://www.ashg.org/cgi-bin/ashg06s/ashg06

31. Tyssowski K, Agthe AG, Li L, Fowler D and Greene C. Genetic Contributions to Unexpected Death: Inferences from a retrospective cohort study in the Medical Examiner’s Office. Poster presentation at the ACMG meeting March 2007, abstract # 187; http://submissions.miracd.com/acmg/Browse.aspx?colID=2&defID=4

32. Kalman L, Barshop BA, Blitzer M, Cowan T, and Greene C. Reference Material Needs Assessment for Biochemical Genetic Testing. Accepted for Poster presentation at the March 2008 meeting of the Society for Inherited Metabolic Disorders. (Publication will be in Molecular Genetics and Metabolism, March issue)


http://submissions.miracd.com/acmg/Browse.aspx?colID=2&defID=4

http://www.ashg.org/cgi-bin/ashg06s/ashg06



https://www.aphl.org/docs/nbs_program_final.pdf

33. Greene C, Strovel E, Joines J, Spector E, Scharer G, Woontner M and Goodman SI. The M405V mutation in GCDH can cause clinically typical GA1, false-negative newborn screens, normal glutaric acid, and variable 3-hydroxyglutaric acid in serum and urine. Accepted for Poster presentation at the March 2008 SIMD meeting and for Platform presentation at the March meeting of the American College of Medical Genetics. (Publication will be in Molecular Genetics and Metabolism March issue and on-line on the ACMG website.)

34. Joines J, Martin, M, Panny S and Greene C. Late Diagnosis of Maternal Phenylketonuria as Cause of Microcephaly: Implications for Genetics and Public Health Practice. Accepted for Poster presentation at the March meeting of the ACMG. (Publication will be on-line)

Letters to editor, editorials, educational materials, etc.

1. Greene CL: Diagnosis of Dubin-Johnson syndrome. J Pediatric 113(3):618, 1988. (letter)

2. Walravens PA, Greene CL, and Frerman FE. Lovastatin, isoprenes and myopathy. Lancet, Nov 4:1097-1098, 1989.

3. Greene CL: MCADD Screening gamble pits benefits against costs. AAP News September 1997.

4. Bernstein L, Freehauf C, IMD Clinic Staff and Trainees and Greene, C. Eat Right, Stay Bright (a guide for treatment of PKU). Parts I - IV. Published by Scientific Hospital Supplies for Distribution to English-speaking metabolic clinics.

5. Contributing editor to US Newborn Screening Systems Guidelines II: Follow-up of Children, Diagnosis, Management and Evaluation. Editors-in-Chief L Elsas and K Pass; a statement of the Council of Regional Networks for Genetic Services, prepared with support of the Maternal and Child Health Bureau of the Health Resources and Services Administration. Published in J Peds supplement, 137:4, S1-46, 2000.

6. Contributing editor to “Integrating Genetic Services into Public Health – Guidance for State and Territorial Programs from the national Newborn Screening and Genetics Resource Center (NNSGRC)” Edited by C Kaye, R Laxova, J Livingston, M Lloyd-Puryear, M Mann, E McCabe and B Therrell, published in Community Genetics 4:175-196, 2001.

7. Watson MS and Greene CL. Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics. Genet in Med 3(6); 436-437, 2001. (Reviewed by ACMG Board and reaffirmed 2005). Posted at http://www.acmg.net/AM/Template.cfm?Section=Policy_Statements&Template=/CM/HTMLDisplay.cfm&ContentID=2579

SELECTED IDIVIDUAL PRESENTATIONS

Visiting Professor1989 South Dakota Newborn Screening Program.1988, 1990, 1993, 1999 Dept of Genetics, University of Md School of Medicine.1991 Fargo North Dakota Pediatric, Program and Residency.1993-1995 2-4x/yr HA Chapman Institute at the Children's Hospital, Tulsa Oklahoma.


Selected Invited Presentations and Invited Workshop Participation Regional/National/International

Annual Conference on Neuropsychiatry and the Treatment of Persons with Developmental Disabilities, 1990 (Metabolic Disease Causing Behavioral and Psychiatric Presentation)

Western Regional Maternal PKU Collaborative Study in New Mexico 1991 (Maternal PKU and Medical Practice)

Conference Planning/Host/Speaker for Practical Approach to Metabolic Disease in Newborns, Infants and Children National Symposium held 1992 in Denver, Colorado.

NIH/University of Colorado Health Sciences Center Conference on Medical Research: Protection of Vulnerable Subjects, 1993 (Children as Research Subjects)

Human Milk Bank of North America Conference 1993 (Metabolic Disorders and Breastmilk) Mountain States Regional Genetics Meeting

1994 (Lactic Acidemia) and 1995 (Newborn Screening for MCADD)

Rocky Mountain Regional Perinatal Care Conference 1994 (Update on Newborn Screening), 1997 (Controversies in Newborn Screening) and 1998 (Acute Presentation of Inborn Errors of Metabolism).

University of Colorado Health Sciences Center and Eleanor Roosevelt Institute, Genetics and Ethics Conference July 1998 (Newborn Screening and Public Health)

Faculty, Genetics in the Courtroom, EINSHAC Conferences:For Federal Judges; 1998; Cape Cod, Mass.Southwest Region Judges; 2000; Sedona, Az.

Invited participant February 1999 workshop on data requirements for development of newborn screening systems, Centers for Disease Control and Prevention

University of Colorado Health Sciences Center and Eleanor Roosevelt Institute, Genetics and Ethics Conference July 1999 (Human Subjects Committees and Issues in the Genetics of Psychiatric Disease)

Update and status of 1999 legislative activities relating to cultural competence in health care- to the AAMC Coalition of Health Professionals for Diversity- to the leadership fellows of the Hispanic Medical Association

Panel presentation at Capitol Hill Health Policy Roundtable forum “Health Professions Education in Underserved Communities: Supporting Partnerships Through Public Policy” 1999, Washington, D.C.

2nd Annual Genetics Meeting of the Association of State and Territorial Health Officers, 1999; presentation on genetics and legislation in the 106th Congress

Presentation to the Professional Women in Genetics Consortium 2000 on genetics policy and legislation

University of Colorado Health Sciences Center and Eleanor Roosevelt Institute, Genetics and Ethics Conference July 2000 (Moderator mock exercise: Company X Board Meeting’s discussion of genetics in the workplace)

Invited lecture and clinical rounds with Department of Genetics at University of Utah (in honor of Dr. Claire Leonard) 3/2001

University of Colorado Health Sciences Center and Eleanor Roosevelt Institute, Genetics and Ethics Conference July 2001 (Developed fact pattern for mock trial, and moderated panel and attendee discussion on “Patient and Health Care Provider Views on Confidentiality”)

Co-chair/moderator session on policy in genetics at 10/01 national meeting of the American Society of Human Genetics


Presented 2/2002 on behalf of DHHS to Secretary’s Advisory Committee on Genetic Testing the analysis of DHHS efforts to advance knowledge of clinical validity and clinical utility of genetic tests (see Sec 1)

Invited presentation 2/2002 on “Asthma and Public Health Genetics” to the ASTHO Chronic Disease Directors/CDC “Genomic and Chronic Disease Summit”

Invited Presentation American College of Medical Genetics national meeting 4/2002 “Policy Development in the Practice of Clinical Genetics” (also developed the Workshop in which that presentation was made)

University of Colorado Health Sciences Center and Eleanor Roosevelt Institute, Genetics and Ethics Conference July 2002 (Coordinated development of mock exercise; chaired closing panel discussion on gene patents “The Ethical Interface: Commerce, Science and Patient Care”)

Invited presentation 11/2002 on “Storage and Use of Residual Dried Blood Spots: Implications of The National Bioethics Advisory Committee Report” at UCLA/HRSA meeting “Challenges for the Future: Newborn Screening State Policies and Procedures”

Invited presentation 11/2003 to regional genetic counselors participating in the genetic counseling training program at Arcardia College, Pennsylvania, on “Licensure of Genetic Counselors”

Invited participant/commentator at 2003 meeting of Advisory Council for HRSA funded University of Maryland project “Assessing Genetic Services and the Health Workforce”

University of Colorado Health Sciences Center, Genetics and Ethics Conference, July 2003 (Coordinated development of and chaired mock exercise on employer-based case management as it relates to “Personal Responsibility in the Era of Predictive Genetic Medicine”)

University of Colorado Health Sciences Center, Genetics and Ethics Conference, July 2004 (Coordinated development of and chaired mock advisory committee exercise on “Genes, Race and Ethnicity”)

University of Colorado Health Sciences Center, Genetics and Ethics Conference, July 2005. (Formal presentation on “Federal Oversight of Genetic Testing” and developed and chaired mock exercise on “Direct To Consumer Advertising and Genetic Testing”)

Invited presentation and participant in CDC/OECD cosponsored meeting September 2005 in Washington DC to consider international guidelines for reporting results of molecular genetic tests.

Presentations (pre and post workgroup meeting) and led workgroup on QA/QC September 2005 for “Promoting Quality Laboratory Testing for Rare Diseases: Key to Ensuring Quality Genetic Testing,” a collaborative effort of CDC, NIH/NHGRI, HRSA, ACMG, ASHG, SIMD and GA.

University of Colorado Health Sciences Center, Genetics and Ethics Conference July 2006. (Coordinated development of and moderated final session for discussion of “Engineering the End of Death: Consequences, forecasting and decisions – the effects and implementation of life-span extension research and technology”)

Presentation on survey of US and international biochemical genetics test availability and CLIA issues, and co-led workgroup on QA/QC Oct 2006 for “Quality, Access, and Sustainability of Biochemical Genetic Testing,” a collaborative effort of CDC, NIH/NHGRI, HRSA, ACMG, ASHG, SIMD and GA.

Invited to develop and moderated panel plenary session “Ask the Experts” for unknown cases for the SIMD March 28 2007

Invited to develop session Newborn Screening: Challenging Cases for joint plenary session of ACMG and SIMD March 2007, presented “Principles and Resources for Challenging Cases” and “Challenging Case: C5OH” and moderated session

Invited presentation: “Newborn Screening: Success, Progress and Challenges”; session at the MidAtlantic Regional Conference for Nurse Practitioners April 21, 2007


Asked by SIMD and ASHG to present “False positive newborn screens: Effects on baby, family and providers and strategies to minimize harms” and helped to develop session “Challenges With Expanded Newborn Screening By Tandem Mass Spectrometry” at annual meeting of the American Society of Human Genetics, Oct 25, 2007

Selected Invited Presentations to Community and to Support Groups

Sample of national educational activities for support groups for genetic disease: Invited articles/guest editor for newsletters of national support networks including support groups

for families with galactosemia, (PDGO), and mitochondrial disease (UMDF); invited articles/medical advisor for Colorado PKU network, Colorado Lactic Acidemia Support Group

Organized and hosted National MPS Annual Meeting (family support group) 1992 Co-chair family panel at UMDF national meeting 1996. Faculty, Tay Sachs and Allied Diseases Annual Conference 2000 (Genetics and Genetic Testing) Guest speaker for Hadassah “Genetic Disease in Ashkenazi Jews” Washington DC 2002 Guest speaker for National Organization of Rare Diseases 2002 annual conference – “Metabolic

and Mitochondrial Disease” Family panel at UMDF national meeting 2002 Invited contributor to “Ask the MD” for UMDF 2003, 2004, 2005

Sample of invited presentations to lay groups: Wellshire Forum on Medical Ethics 1989 - Ethical Issues in Health Care and in Genetics Epilepsy Foundation 1997 - Metabolic disease and the ketogenic diet for seizures American Association of University Women 1997 - Managed Care and Health Care Delivery Colorado Foundation for Arts and Humanities 2000 – Does Can Mean Should? (Ethical issues in

genetics, part of a series addressing ethics in health care) Fabry Disease: Affected Women’s Advisory Group meeting Dec 1, 2006 Baltimore Story hour: Down Syndrome – at Barnes and Noble, Baltimore Inner Harbor, February 16, 2007

Maryland Local/Institutional Talks/Presentations

St Agnes Hospital, Baltimore, Maryland Department of Pediatrics Grand Rounds (to faculty, residents and community physicians) May 4, 2007 – “What’s wrong with this picture? Dysmorphology and Non-traditional inheritance”

UMD Division of Cardiology (Dept of Internal Medicine) Grand Rounds January 25, 2007 – Genetics of Cardiac Disease

UMD Dept of Pediatrics/Division of Neonatology Fellows Conference January 5, 2007 – Evaluation of the Dysmorphic Newborn

UMD Dept of Pediatrics/Division of Neonatology Fellows Conference September 29, 2006 – Principles of Genetics and Patterns of Inheritance

UMD Dept of Pediatrics/Division of Behavior and Development Grand Rounds May 30, 2006 – “Non-traditional Inheritance in the Behavior and Development Clinic”

UMD Dept of Pediatrics/Division of Behavior and Development Grand Rounds April 18, 2006 – “Mitochondrial Disease: Developmental and Behavioral Presentation and Consequences”

University of Maryland Division of Endocrinology (Internal Medicine) Grand Rounds “Genetics in Your Endocrine Practice: Principles and Cases” to fellows and faculty, February 20, 2006

Sinai Hospital, Baltimore, Maryland Department of Pediatrics Grand Rounds (to faculty, residents and community physicians) November 15, 2005 - “Evaluation of the Child with Dysmorphic Features and/or Developmental Delay”.


Cumberland Memorial Hospital, Cumberland, Maryland “Newborn Screening and Inborn Errors of Metabolism in Pediatric Practice” as Pediatric Grand Rounds Nov 2, 2005

Georgetown University Hospital “Newborn Screening” as part of seminar on “Genetics in Your Practice”, October 7, 2005.

Franklin Square Hospital, Baltimore, Maryland, Department of Pediatrics Grand Rounds (to faculty, residents and community physicians) August 23, 2005 – “Evaluation of the Child with Dysmorphic Features and/or Developmental Delay”.

UMd Department of Pediatrics/Pediatric Intensive Care April 12, 2005 – “Inborn Errors of Metabolism in the PICU”

Ob/Gyn Grand Rounds Georgetown University Hospital, Washington DC, April 20, 2005 - “Newborn Screening: Success, Progress, Challenges – Perspectives for OB/Gyn”

UMd Dept of Pediatrics/Division of Behavior and Development Grand Rounds March 1, 2005 – “Genetics in the Behavior and Development Clinic”

Mercy Hospital Pediatric Grand Rounds February 4, 2005 – “Genetics in the Pediatric Office” Pediatric Grand Rounds St. Agnes Hospital, Baltimore (affiliated with Johns Hopkins) October

22, 2004 on “Genetics in Pediatric Practice”

PROFERRED COMMUNICATIONS

1. Luder AS, Parks JK, Freehauf C, Greene CL, vanDoorninck W, Parker DW: Familial cytochrome oxidase deficiency associated with psychosis. Society of Inherited Metabolic Diseases Meeting, 1989.

2. Mofidi S, Greene CL, Hooper L, Levy H, Rohr F, Williams JC, Yannicelli S: Growth and plasma phenylalanine concentrations of infants treated with AnalogR. International Congress of Inborn Errors of Metabolism 1990.

3. Arnold GL, Goldberg GR, Luder A and Greene CL. Use of graded cycle ergometry to objectively measure response to CoQ in a patient with a complex I etc., disorder. Society of Inherited Metabolic Diseases 1991.

4. Goldberg GR, Yannicelli S, and Greene CL. Dietary treatment in lactic acidemia (LA) based on glucose challenge results. Society of Inherited Metabolic Diseases 1991.

5. Abdenur JE, Bernstein L, King R, Allen R, Davidson-Mundt A, Greene CL. Management of Cobalamin C Defect; Propiogenic AA Restriction. Soc for Inherited Metabolic Disorders, 1993.

6. Sokol RJ, Narkewicz MR, Greene CL, Karrer FM, Vladutiu GD, DiMauro S. Successful liver transplantation for fulminant hepatic failure in infancy with severe lactic acidosis and hepatic mitochondrial electron transport defect. Amer. Assoc. for the Study of Liver Diseases, 1994.)

7. Thomas J, Greene C. Underascertainment of Medium Chain Acyl CoA Dehydrogenase Deficiency. (Soc for Inherited Metabolic Disorders, 1994.

8. Abdenur JE, Vaquero-Solans C, Davidson-Mundt A, Nord A, Willner J and Greene C. Normal Predicted Heights Despite Suboptimal Growth in Children with Classical Galactosemia. (Platform presentation to the VI International Congression on Inborn Errors of Metabolism, May 1994.)


CAROL LYNN GREENE, M.D. CV ADDENDUM: PUBLIC POLICY EXPERIENCE

SELECTED ACTIVITIES AT DEPARTMENT OF HEALTH AND HUMAN SERVICES

Policy Analyst/Medical Officer (on Interagency Personnel Agreement exchange/contract) in Office of Science and Data Policy (OSDP, previously Office of Science Policy) in the Office of the Assistant Secretary for Planning and Evaluation (OASPE) since April, 2000. Portfolio includes children’s health (including research, human subject protection, environmental issues, newborn screening and bioterrorism); genetics (including genetic testing and services); asthma; diabetes; use of human biological materials in research; science policy issues for DHHS strategic plan, and, for 6 months in 2003, Centers for Disease Control and Prevention. Highlights:

Drafted the OSDP contribution to materials prepared in 2001 for the incoming Secretary of HHS and the Assistant Secretary for Planning and Evaluation, including forecast for impact of future science issues on health policy.

Analyzed recommendations made by the National Bioethics Advisory Commission on use of human biologic materials in research, drafted responses for consideration by internal HHS workgroup, participated in or led meetings of the workgroup, and prepared the final DHHS response for clearance and publication.

As OSDP liaison to the HHS Strategic Planning effort, reviewed Strategic Plan goals, objectives, and strategies and provided materials for inclusion in Plan.

As OSDP lead analyst for national issues in genetic services and genetic testing: Analyzed (with NIH Office of Biotechnology Activities) and presented to the Secretary’s Advisory Committee on Genetic Testing a summary of DHHS activities in translational genetic research; participated in HHS interagency development of proposal for improved oversight of genetic tests; served as grant reviewer HRSA projects on newborn screening and genetics.

As technical expert for the Oct 2003 US Delegation to UNESCO Working Group on Genetic Information, participated in deliberations of the UNESCO international workgroup, and assisted with development of US position and statements.

Served as member OPHS workgroup on children and bioterrorism; participated in review of state planning and implementation grants for hospital response to bioterrorism.

Served as CDC “Desk Officer” May – Sept 2003. Responsibilities included monitoring and evaluation of CDC budget, legislation, reports, and testimony.

As point of contact for recruitment of summer interns (Truman scholars, Greenwall fellows), identified or developed suitable projects, and supervised or mentored summer trainees.

Provided medical expertise for OSDP analysis of adverse events reported after exposure to ephedra, performed quality control for the analysis, and prepared draft of report.

Other activities for OSDP include: development and evaluation of new initiatives (asthma, diabetes); participate in selected interagency or interdepartmental workgroups or meetings (e.g. Federal Liaison Group on Asthma).

LEGISLATIVE FELLOW (1999) WITH SENATE MINORITY HEALTH SUBCOMMITTEE

Selected by the American Society of Human Genetics to receive the 1999 ASHG/American Association for the Advancement of Science Congressional Fellowship, and joined the minority staff of the Senate Health Subcommittee. Activities included background research; drafting letters, speeches, statements, and testimony; developing legislative proposals; meeting with constituents, advocates and other offices; organizing meetings and testimony. Portfolio included issues in


children’s health, Children’s Health Insurance Program, Medicaid, organs and transplantation, pediatric graduate medical education, immunizations, and public health genetics. Major accomplishments:

Proposed and drafted S. 1981 “Genetics in Public Health Act”. In 2000 elements of S. 1981 were enacted as Title XXVI of the Children’s Health Act. Also proposed and drafted language for study of newborn screening, enacted as Title XXVIII of the Children’s Health Act.

Proposed and drafted sections of S. 1880 “Minority Health and Health Disparities Research and Education Act”, passed in 2000, authorizing 1) an NAS study to explore unresolved problems in data definitions and data collection to reduce health disparity, and 2) a new program for education of health professionals to reduce health disparity.

Also participated in successful legislative efforts to preserve state access to federal funds for enrollment of children in Medicaid and SCHIP; to provide funds for support of graduate medical education in pediatrics; to improve Medicare coverage for drugs following organ transplantation; and to update eligibility criteria for Federal recompense in the event of adverse vaccine reaction.

HIGHLIGHTS OF COLORADO ADVOCACY ACTIVITIES

Col HB 96-1030 (1996) Bill passed; mandates repeat newborn screen for babies in Colorado. Role: Proposed legislation, assisted the Colorado Department of Health with drafting and testimony.

Col HB 94-1078 (1994) Bill passed; funds professional clinical management services for individuals in Colorado with inborn errors of metabolism detected by newborn screening. Role: Proposed legislation, assisted with finding sponsor and drafting bill, testified.


CAROL LYNN GREENE, M.D. CV ADDENDUM: CLINICAL TRAINING, KNOWLEDGE AND EXERIENCE:

2000-2004 Faculty/staff physician, 25% time (2000-2003 50% time) at Children’s National Medical Center (CNMC)

Clinical responsibilities focus nearly exclusively on inborn errors of metabolism. However, also share call for general genetics on nights and weekends for inpatient consultation at CNMC and area hospitals. General genetics or prenatal genetics patients seen only rarely in clinic, but continue close collaboration with general genetics as consultant on complex cases, and continue regular attendance at monthly case conference and journal club.

1987-2000 Faculty in Pediatrics at University of Colorado Health Sciences Center (UCHSC) and The Children’s Hospital (TCH) Denver

As Director of Inherited Metabolic Diseases Clinic entire period, at UCHSC and The Children's Hospital, provided clinical evaluation and management for metabolic disorders.

As Medical Director, Cytogenetics Diagnostics Laboratory, UCHSC, (1993-5) responsible for providing clinical interpretation of laboratory results as needed, and as Director, Cytogenetics Diagnostic Laboratory, UCHSC, (1989-93) responsible for all clinical activities of the laboratory.

Satellite clinics for general genetics initially 4 – 6 X year and cross-covered for inpatient general genetics consultation at UCHSC, TCH and area hospitals, and increased general clinical genetics responsibilities when general genetics faculty on sabbatical or otherwise unavailable. During 1988-1990, while OB/GYN Department was without Board Certified Clinical Geneticist, had formal responsibility supervising genetics activities of the UCHSC maternal-fetal/prenatal diagnosis program physician and genetic counselor (approximately 1 ½ years, both routine and complex cases). Activity in general clinical genetics gradually decreased as metabolic clinic, cytogenetic and prenatal activity increased, and by 1992 no longer routinely attending in the general genetics clinics (satellite or on-site). However, through entire period provided coverage for general clinical genetics coverage as needed when general genetic faculty unavailable.

1983-1987 Faculty in The Human Genetics Program/Hayward Genetic Center, Tulane University School of Medicine.

As Director, Genetics Clinics at Charity, Children's and Ochsner Hospitals (each at least weekly) responsible for general genetics in and out-patient consultations; at Ochsner clinic also developed program in coordination with Maternal-Fetal Medicine for prenatal diagnosis for complex cases (~ 20% of the clinical activity) and at Children’s provided genetic services to birth defects and special needs clinics. Also staffed two satellite clinics (at least monthly).

1982-1983 Fellow in Genetics at Stanford

Fellowship training in general clinical genetics, dysmorphology, birth defects, teratology, inborn errors of metabolism, and cytogenetics. In the third year of my two-year fellowship, I had primary responsibility for the cleft lip and palate clinic, the spina bifida clinic, the metabolic clinic, the cytogenetics laboratory, and the prenatal counseling program.


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