Human Genetics has become a central focus of basic and biomedical research over the past decades, and is truly an integrative field. The study of the molecular basis of human disease promises to yield significant insights into our basic understanding of disease pathogenesis, and holds enormous promise in terms of therapeutic and clinical applications. This application requests funds to establish a Medical Genetics Training Program at Columbia University Medical Center to support three postdoctoral trainees per year, in a University-wide training program on the topic of Human Genetics. Training focuses on the clinical, molecular and genetic aspects of both Mendelian and complex diseases in children and adults. The major strength of the Medical Genetics Training Program is the outstanding quality and diversity of the training faculty, which provides trainees with the opportunity to perform postdoctoral research in laboratories and clinical settings that are internationally recognized. Twenty three faculty members representing many different Departments are included in this training program and have extensive experience and outstanding track records as trainers and mentors. Our mission is to advance the science underlying human genetics, and incorporate these advances into clinical practice through translational research. The goals of this Training Grant are directly aligned with NIGMS-supported postdoctoral training programs in medical genetics, which are designed to foster research careers in both basic and clinical aspects of human genetics. The clinical, didactic and research components of our Training Program are intended to prepare physician- scientists for a career in academic medicine. The Medical Genetics Training Program will provide an outstanding well-rounded training experience for postdoctoral trainees that will allow them to pursue a future academic career, and create a forum for the advancement of human genetics from many different programs at CUMC.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Institutional National Research Service Award (T32)
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Study Section
Special Emphasis Panel (ZGM1-BRT-5 (PD))
Program Officer
Haynes, Susan R
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Columbia University (N.Y.)
Schools of Medicine
New York
United States
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Dodhia, Sonam; Celis, Katrina; Aylward, Alana et al. (2017) ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations. Laryngoscope 127:E336-E339
Gluchowski, Nina L; Chitraju, Chandramohan; Picoraro, Joseph A et al. (2017) Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J Lipid Res 58:1230-1237
Hui-Yuen, J S; Christiano, A M; Askanase, A (2016) Sex differences in genomics in lupus: girls with systemic lupus have high interferon gene expression while boys have high levels of tumour necrosis factor-related gene expression. Scand J Rheumatol 45:394-6
Celis, Katrina; Shuldiner, Scott; Haverfield, Eden V et al. (2015) Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis 38:941-8
Hui-Yuen, Joyce S; Reddy, Arthi; Taylor, Jennifer et al. (2015) Safety and Efficacy of Belimumab to Treat Systemic Lupus Erythematosus in Academic Clinical Practices. J Rheumatol 42:2288-95
Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim et al. (2015) Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet 52:541-7
Lee, Teresa M; Addonizio, Linda J; Chung, Wendy K (2014) Dilated cardiomyopathy due to a phospholamban duplication. Cardiol Young 24:953-4
Xing, Luzhou; Dai, Zhenpeng; Jabbari, Ali et al. (2014) Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition. Nat Med 20:1043-9
Furniss, Megan; Higgins, Claire A; Martinez-Mir, Amalia et al. (2014) Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma. J Invest Dermatol 134:1749-1752
Luke, Courtney T; Casta, Alexandre; Kim, Hyunmi et al. (2013) Hairless and the polyamine putrescine form a negative regulatory loop in the epidermis. Exp Dermatol 22:644-9

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