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Richard                        Erbe

Richard W. Erbe MD

Department of Pediatrics

Professor and Chief, Genetics

Specialty/Research Focus

Children and Adults; Clinical Cytogenetics; Clinical Genetics; Clinical Molecular Genetics; Inherited Metabolic Disorders; Molecular genetics; Pediatric Genetics; Pediatrics; Regulation of metabolism

 
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Education and Training:
  • Fellowship, Environmental Health Institute (1992)
  • Fellowship, Institute for Society, Ethics and the Life Sciences (1980)
  • Research Fellowship, Biological Chemistry, Harvard Medical School (1970)
  • Research Associate, Laboratory of Biochemistry, National Institutes of Health: National Cancer Institute (1968)
  • Assistant Resident, Medicine, Peter Bent Brigham Hospital (now Brigham & Women's Hospital) (1966)
  • Internship, Medicine, Peter Bent Brigham Hospital (now Brigham & Women's Hospital) (1965)
  • MD, Medicine, University of Michigan Medical School, Valedictorian (1964)
  • Premedicine Degree, Premedicine, University of Michigan (1960)
Employment:
  • Professor, Pediatrics and Medicine, University at Buffalo (1989-present)
  • Chief, Division of Genetics, Women and Children's Hospital of Buffalo (1989-present)
  • Pediatrician, Massachusetts General Hospital (1979–1990)
  • Director, Genetics Division, Shriver Center (1985–1989)
  • Associate Professor, Genetics, Harvard University, Medical School (1984–1989)
  • Associate Professor, Pediatrics, Harvard University, Medical School (1978–1989)
  • Assistant Physician, Massachusetts General Hospital (1975–1989)
  • Attending Physician, Genetics, Massachusetts General Hospital (1974–1989)
  • Chief, Genetics Unit, Massachusetts General Hospital (1974–1989)
  • Medical Geneticist, Boston Sickle Cell Center (1972–1989)
  • Attending Physician, Pediatrics, Massachusetts General Hospital (1974–1982)
  • Associate Pediatrician, Massachusetts General Hospital (1974–1978)
  • Assistant Professor, Pediatrics, Harvard University, Medical School (1972–1978)
  • Attending, Genetics, Veterans Administration Hospital (1970–1976)
  • Attending Physician, Medicine, Massachusetts General Hospital (1971–1974)
  • Assistant, Medicine, Massachusetts General Hospital (1970–1974)
  • Assistant, Pediatrics, Massachusetts General Hospital (1970–1973)
  • Instructor, Pediatrics, Harvard University, Medical School (1970–1972)
  • Assistant, Medicine, Peter Bent Brigham Hospital (1968–1970)
See All (19 Total) >
Awards and Honors:
  • University at Buffalo School of Medicine and Biomedical Sciences: Louis A. and Ruth Siegel Award (2012)
  • American College of Medical Genetics: Founding Fellow (1993)
  • University of Massachusetts Medical School: Elissa Klein Lectureship (1985)
  • American Academy of Orthopaedic Surgeons: Kappa Delta Award (1973)
  • University of Michigan Medical School: Borden Undergraduate Research Award in Medicine (1964)
  • Alpha Omega Alpha Honor Medical Society
  • Phi Kappa Phi Honor Society
  • Best Doctors in America (2009-Present)

Research Expertise:
  • Medical Genetics: Board Certified
  • Medical Genetics-Clinical Cytogenetics: Board Certified
  • Medical Genetics-Molecular: Board Certified

Journal Articles:
See All (48 Total) >
Abstracts:
  • Erbe RW, Janes SR, Rosenfield JM, Wertz DC. Knowledge and Attitudes of Cystic Fibrosis Families Toward DNA Prenatal Diagnosis. Pediatr Res. 1991; 29.
  • Wertz DC, Rosenfield JM, Janes SR, Erbe RW. Attitudes Toward Termination of Pregnancy of Parents of Children with Cystic Fibrosis. Am J Hum Genet. 1990; 47.
  • Wertz DC, Rosenfield JM, Janes SR, Erbe RW. Psycho-social Factors in Utilization of DNA-based Prenatal Diagnosis for Cystic Fibrosis. Am J Hum Genet. 1989; 45.
  • Janes SR, Wertz DC, Rosenfield JM, Erbe RW. Families' Knowledge and Attitudes about DNA Carrier Testing and Prenatal Diagnosis for Cystic Fibrosis (CF): A Survey in 6 New England States. Pediatr Pulmonol. 1989; Sup 4.
  • Rosenfield JM, Balfour R, Erbe RW, Kao ML. Molecular Confirmation of a Subtle 4p-, 8p+ Familial Translocation in an 11-Week Fetus. Am J Hum Genet. 1988; 43.
  • Janes SR, Erbe RW, Amos JA. DNA Linkage Analysis: Implications for Patient Management. Am J Hum Genet. 1987; 41.
  • Paika JJ, Rosenfield JM, Kao ML, Erbe RW. A De Novo Marker Chromosome in Prenatal Diagnosis. Am J Hum Genet. 1987; 41.
  • Erbe RW. Features and Natural History of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency. Am J Hum Genet. 1986; 39.
  • Ghavami M, Atkins L, Erbe RW. Partial Trisomy 3p and Partial 18q in the Son of a 46,XX,t(3;18) Mother. Am J Hum Genet. 1986; 39.
  • Amos JA, Schweig E, Janes SR, VandeWoude G, Williamson R, Erbe RW. Prenatal Diagnosis and Carrier Testing for Cystic Fibrosis. Am J Hum Genet. 1986; 39.
  • Abruzzo MA, Hunt PA, Mayer M, Jacobs PA, Wang JC, Erbe RW. A Comparison of Fragile X Expression in Blood and Lymphoblastoid Cultures. Am J Hum Genet. 1985; 37.
  • Thomas IT, Rosenblatt DS, Erbe RW. Vitamin B12-responsive Homocystinuria and Megaloblastic Anemia (Cbl E). Am J Hum Genet. 1985; 37.
  • Wang JC, Erbe RW. Fragile X Syndrome: Folate Metabolism in Cells from Patients and Carriers. Pediatr Res. 1983; 17.
  • Wang JC, Beardsley GP, Erbe RW. Thymidylate Metabolism and Uracil Misincorporation in Fragile X Syndrome Cells. Am J Hum Genet. 1983; 351.
  • Cederbaum SD, Shaw KNF, Cox DR, Erbe RW, Boss GR, Carrel RE. Homocystinuria due to Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency: Response to a High-Protein Diet. Pediatr Res. 1982; 15.
  • Wang JC, Boss GR, Magner MT, Erbe RW. Folate Pathways in Cells from Fragile X Syndrome Patients and Carriers. Am J Hum Genet. 1982; 34.
  • Levitt LJ, Boss GR, Erbe RW. Nucleic Acid Hypomethylation in SV40-transformed Human Fibroblasts. Clin Res. 1981; 29.
  • Boss GR, Erbe RW. Decreased Purine Synthesis During Amino Acid Starvation of Human Lymphoblasts. Am J Hum Genet. 1981; 33.
  • Boss GR, Tessier MJ, Magner MT, Erbe RW. Decreased Methionine Biosynthesis by Methylene Tetrahydrofolate Reductase Deficient Lymphoblasts. Clin Res. 1980; 28.
  • McInness RR, Shih VE, Erbe RW. Metabolic Abnormalities in Lowe Syndrome Fibroblasts. Pediatr Res. 1976; 10.
  • Hoffman RM, Erbe RW. High In Vivo Rates of Methionine Biosynthesis in Transformed Human and Rat Cells Auxotrophic for Methionine.. Am J Hum Genet. 1975; 27.
  • Irr JD, Jacoby LB, Erbe RW. Derepression of Argininosuccinate Synthetase in Cultured Lymphoblasts. Am J Hum Genet. 1975; 27.
  • Hoffman RM, Erbe RW. Altered In Vivo Regulation of Methionine Biosynthesis in Transformed Human and Rat Cells Auxotrophic for Methionine. J Cell Biol. 1975; 67.
  • Hoffman RM, Erbe RW. Regulation of Folates in Proliferating and Quiescent Human Fibroblasts. J Cell Biol. 1974; 63.
  • Rosenblatt DS, Erbe RW. Coordinate Changes in Folate Enzyme Activities During the Culture Cycle of Human Fibroblasts. In Vitro. 1973; 8.
  • Krane SM, Pinnel SR, Erbe RW. Collagen Hydroxylase in Cultured Fibroblasts from Patients with Hydroxylysine Deficient Collagen. Arthritis Rheum. 1973.
  • Ward JB, Erbe RW. Regulation of Methyltetrahydro-folate Homocysteine Methyltransferase in Cultured Human Lymphoblasts. J Cell Biol. 1973; 59.
  • Erbe RW. Regulation of Serine Hydroxymethyltransferase in Cultured Human Cells. Am J Hum Genet. 1973; 25.
  • Krane SM, Pinnell SR, Erbe RW. Decreased Lysyl-Protocollagen Hydroxylase Activity in Fibroblasts from a Family with a Newly Recognized Disorder: Hydroxylysine-Deficient Collagen. J Clin Invest. 1972; 51.
  • Erbe RW, Littlefield JW. Folate Enzymes in Cultured Human Cells, an Approach to Inborn Errors of Folic Acid Metabolism. Am J Hum Genet. 1972; 24.
  • Rosenblatt DS, Erbe RW. Methylene-Tetrahydrofolate Reductase in Human Cells from Normals and from a Family with Reductase Deficiency. Am J Hum Genet. 1972; 24.
  • Kamely D, Erbe RW. Induction of Methly-Tetrahydrofolate Reductase Homocysteine Methyltransferase by Methionine Deprivation in Cultured BHK Cells. J Cell Biol. 1972; 55.
  • Erbe RW, Nau MM, Leder P. Initiation and Protein Synthesis: Recognition of Adjacent Codons and Dipeptide Synthesis. Fed Proc. 1968; 27.
  • Erbe RW, Weller JM. Effect of Thiazides on Acid-Base Balance. Clin Res. 1963; 11.
  • Erbe RW, Weller JM. Acute Effects of Chlorothiazide on Plasma Electrolytes and Acid-Base Pattern of Nephrectomized Rats and Dogs. Fed Proc. 1962; 21.
See All (35 Total) >
Books and Book Chapters:
  • Erbe RW. "Neonatal Screening". Emery and Rimoin's Principles and Practice of Medical Genetics, 6th Edition. 2013.
  • Erbe RW. "Neonatal Screening". Emery and Rimoin's Principles and Practice of Medical Genetics, 5th Edition. 2007.
  • Erbe RW. "Neonatal Screening". Emery and Rimoin‘s Principles and Practice of Medical Genetics, 4th Edition. 2002.
  • Erbe RW. "Genetic Disorders". Textbook of Internal Medicine, 4th Edition. 2000.
  • Erbe RW. "Genetic Disorders". Textbook of Internal Medicine, 3rd Edition. 1997.
  • Erbe RW, Levy HL. "Neonatal Screening". Emery and Rimoin‘s Principles and Practice of Medical Genetics, 3rd Edition. 1997.
  • Erbe RW. "Medical Genetics". Scientific American Medicine. 1994; 9(IV).
  • Erbe RW. "Principles of Human Genetics". Textbook of Internal Medicine, 2nd Edition. 1992.
  • Erbe RW. "Genetic Counseling". Textbook of Internal Medicine, 2nd Edition. 1992.
  • Erbe RW, Boss GR. "Newborn Genetic Screening". The Principles and Practices of Medical Genetics, 2nd Edition. 1990.
  • Erbe RW. "Principles of Human Genetics". Textbook of Internal Medicine. 1989.
  • Erbe RW. "Genetic Counseling". Textbook of Internal Medicine. 1989.
  • Miller WA, Erbe RW. "Genetic Counseling". Principles and Practices of Gynecology, 4th Edition. 1986.
  • Erbe RW, Boss GR. "Newborn Genetic Screening". The Principles and Practices of Medical Genetics, 1st Edition. 1983.
  • Miller WA, Erbe RW. "Genetic Counseling". Principles and Practices of Gynecology, 3rd Edition. 1979.
  • Erbe RW. "Genetic Disorders". The Horizons of Health. 1977.
  • Erbe RW. "Screening for Hemoglobinopathies". Prevention of Genetic Disease and Mental Retardation. 1976.
  • Erbe RW. "Mass Screening and Genetic Counseling in Mendelian Disorders". Ethical, Social and Legal Dimensions of Screening for Human Genetic Disease. 1974.
  • Erbe RW. "Genetic Counseling in Sickle Cell Trait and Sickle Cell Anemia". Sickle Cell Anemia - the Neglected Disease. 1973.
See All (19 Total) >

Professional Memberships:
  • American Chemical Society (1971–1985)
  • American Society for Cell Biology
  • American Federation for Clinical Research
  • Society for Pediatric Research
  • American Society for Biochemisty and Molecular Biology
  • Society for the Study of Inborn Errors and Metabolism
  • Society for Inherited Metabolic Disorders
  • American Pediatric Society
  • American Association for the Advancement of Science
  • American Society of Human Genetics
Service Activities:
  • American Board of Medical Genetics; Board of Directors (2000–2005)
  • The Endocrinologist: Genetics and Metabolism Section; Editorial Board Member (2000–2004)
  • National Institute of General Medical Sciences: Genetics Basis of Disease Review Committee; Chair (1995–1996)
  • Association of Professors of Human and Medical Genetics; University Representative (1995)
  • Genetics Task Force of New York State; Board of Directors (1994–1997)
  • New York Hospital-Cornell Medical Center: SPRANS Project "An Educational Program in Genetics for the Primary Care Provider"; Program Director: Jessica G. Davis, MD; Consultant (1994)
  • American College of Medical Genetics: Nominating Committee; Committee Member (1993–1994)
  • American Society of Human Genetics: Social Issues Committee; Committee Member (1992–1994)
  • Blackwell Scientific Publishers: Molecular Basis of Medicine; Editor (1992–1993)
  • Genetic Network of New York State, Puerto Rico and the Virgin Islands (GENES): Prenatal Diagnosis Committee; Chair (1992)
  • National Institute of General Medical Sciences: Genetics Basis of Disease Review Committee; Committee Member (1991–1995)
  • National Board of Medical Examiners: FLEX Test Material Development Subcommittee; Committee Member (1990–1991)
  • March of Dimes Birth Defects Foundation: Chapter Grants Advisory Committee; Committee Member (1988–1990)
  • Collaborative Research, Inc.: Diagnostic Services Division - Reference Laboratory (Waltham, MA); Director (1988–1989)
  • March of Dimes Birth Defects Foundation: Clinical Genetics Conference; Chair (1988–1989)
  • March of Dimes Birth Defects Foundation: Predoctoral Graduate Research Training Fellowship Committee; Committee Member (1987–1993)
  • March of Dimes Birth Defects Foundation: Clinical Genetics Conference - Advisory Committee; Committee Member (1985–1994)
  • Cystic Fibrosis Foundation: Medical Advisory Council; Member (1985–1987)
  • Massachusetts General Hospital: Committee on Research; Committee Member (1980–1989)
  • March of Dimes Birth Defects Foundation: Medical Services Advisory Committee; Committee Member (1980–1986)
  • American Society of Human Genetics: Program Committee; Chair (1980–1981)
  • New England Regional Genetics Group (NERGG); Co-Director (1977–1989)
  • New England Regional Genetics Group (NERGG): Prenatal Diagnosis Committee; Chair (1977–1989)
  • The New England Journal of Medicine; Editorial Board Member (1976–1979)
  • Harvard Medical School: Genetics Training Grant and Program (Postdoctoral); Director (1974–1989)
  • Massachusetts Institute of Technology: Cell Cultural Center - Steering Committee; Committee Member (1974–1986)
  • Cystic Fibrosis Foundation: Research Committee; Committee Member (1972–1978)
  • Institute for Society, Ethics and the Life Sciences: Genetics Research Group (Hastings-on-Hudson, NY); Member (1972–1978)

Clinical Specialties:
Clinical Offices:
Insurance Accepted:

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Contact Information

Women and Children‘s Hospital of Buffalo
Division of Genetics
219 Bryant Street
Buffalo, NY 14222
Phone: (716) 878-7411
Fax: (716) 878-7405
Email: erbe@buffalo.edu

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