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Research In Human Genetics On CUMC Campus

Research Activity in Human Genetics

In addition to Center for Human Genetics faculty, several departments and centers on the Health Sciences Campus have active research involving human genetics. Studies include Alzheimer's disease, asthma, arthritis, blood disorders, cancer, cardiovascular diseases, celiac disease, craniofacial malformations, diabetes and lipid disorders, eye diseases, Parkinson's disease, psychiatric and neurological diseases, diabetes, obesity, skin disease and polygeneic traits such as immunological disorders, longevity, memory and smoking.

Faculty Research



  • Robin Barst - pulmonary hypertension
  • Jessica Kandel – pediatric vascular anomalies
  • Rocky Kass - genetics of sudden cardiac death and heart failure
  • Andy Marks -genetics of sudden cardiac death and heart failure
  • Alan Tall -atherosclerosis and Alzheimer’s Disease
  • Ralph Sacco - stroke

College of Dental Medicine

  • Ira Lamster - susceptibility to caries and periodontal disease


  • Karima Djabali – laminopathies and progeria
  • Julide Tok-Celebi – genetics of melanoma


  • Domenico Accili - obesity and diabetes
  • Henry Ginsberg - genetics of lipoprotein disorders in humans

Mouse Models of Human Disease

  • Frank Costantini –RET signaling multiple endocrine neoplasmia*                     
  • Jeanine D'Armiento - mouse models of pulmonary diseases*                     
  • Argiris Efstratiadis – growth control and imprinting*
  • Gerard Karsenty – bone and cartilage biology*                     
  • Thomas Ludwig - breast cancer susceptibility gene*                     
  • Cathy Mendelsohn – renal and urogenital defects*                     
  • Virginia Papaioannou - di George syndrome, ulnar-mammary syndrome*                     
  • Debra Wolgemuth – reproductive system*
  • Lili Yamasaki – retinoblastoma


  • James Goldman - Alexander disease*                         
  • Petra Kaufmann - MELAS, spinal muscular atrophy*                         
  • Elan Louis – genetics of involuntary movement*
  • Marc Patterson- Neimann Pick type C

Polygenic Disorders

  • Jean Ford - asthma*                     
  • Peter Green - Celiac disease*
  • Percio Gulco - Rheumatoid arthritis*                     
  • Robert Winchester –genetic susceptibility to autoimmune disease


  • Miron Baron - Bipolar Disorder*
  • Lexie Erlenmeyer-Kimling - psychiatry*
  • David Greenberg - genetics of epilepsy*                     
  • John Mann - Genetics of suicide; aggression; impulsivity

Statistical Genetics

  • Sue Hodge – statistical genetics/genetic epidemiology*                     
  • Hank Juo - epidemiology and applied genetics*
  • Joe Lee - statistical genetics
  • Jurg Ott - statistical methods for human gene mapping
  • Daniel Rabinowitz – genetic epidemiology
  • Joe Terwilliger – statistical genetics, gene/environment interactions

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