Clinical Genetics

Research

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Division: 
Clinical Genetics
Director: 
Kwame Anyane-Yeboa, MD (Interim Director)
Email: 
ka8@columbia.edu
Phone: 
(212) 305-7983
Administrator: 
Lubna Shamsi, MPH
Phone: 
(212) 305-5831
Fax: 
(212) 342-5756
  • DHREAMS (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science): To identify the genes causing congenital diaphragmatic hernia by assessing genetic copy number on a genome wide basis using oligonucleotide arrays. Wendy Chung MD, PhD (NIH/NICHD R01 HD057036-03)
  • Genetic Basis of Cardiac Disease: To study genetic factors associated with congenital heart disease and to identify clinical and genomic factors associated with heart disease. Wendy Chung MD, PhD (NIH/NHLBI U01HL098163)
  • Genetic Services GrantKwame Anyane-Yeboa MD (NYSDOH SDH CO23846)
  • Pediatric Neuromuscular Clinical Research Network: To establish a clinical research network that clinically and molecularly characterizes patients with spinal muscular atrophy and establishes biomarkers to monitor clinical efficacy in preparation for SMA clinical trials. Wendy Chung MD, PhD
  • Identification of a novel breast cancer susceptibility gene in Ashkenazi Jewish families: To identify novel genes for breast cancer susceptibility in Ashkenazi Jewish families with hereditary breast cancer who do not harbor mutations in BRCA1 or BRCA2. Wendy Chung MD, PhD (Doris Duke Charitable Foundation Clinical Scientist Development Award)
  • Metropolitan New York Registry of Breast Cancer Families: To follow up high-risk families for breast and ovarian cancer risk and to identify genetic and environmental factors leading to increased cancer risk. Wendy Chung MD, PhD(U01CA069398U01)
  • Center for ELSI Research on Psychiatric, Neurologic, and Behavioral Genetics: To assess the attitudes of parents and providers of patients with genetic disorders Wendy Chung MD, PhD, and Paul Applebaum PhD (P20 HG005535-01)
  • Pulmonary Hypertension: To identify novel genes causing CHD and pulmonary hypertension in children. We have identified four novel genes causing pulmonary hypertension: Calveolin 1, KCNK3, EIF2AK4, and TBX4.  Wendy Chung MD, PhD
  • Autism: To identify novel genes for neurodevelopmental disabilities. We have identified and characterized: KAT6A, PPP2R5D, PRUNE, EMC1, AHDC1, POGZ, PURA, ARID2, DDX3X, SETD2, SPATA5. Wendy Chung MD, PhD