Clinical Genetics

Clinical Research Activities

• DHREAMS (Diaphragmatic Hernia Research & Exploration; Advancing Molecular Science). Identification of genes causing congenital diaphragmatic hernia by assessing genetic copy number on a genome wide basis using oligonucleotide arrays. NIH/NICHD R01 HD057036-02 (PI:Chung)
  Julia Wynn, research study coordinator
  jw2500@columbia.edu / 212-305-6987
  www.cdhgenetics.com

• Genetic Basis of Cardiac Disease
  As the molecular genetics core laboratory for the Pediatric Heart Network, under the leadership of Dr. Chung, we are identifying genetic factors modulating disease severity associated with congenital heart disease. We are characterizing the frequency and types of mutations associated with cardiomyopathy, arrhythmias, and pulmonary hypertension and genes that modify their penetrance. We are also clinically and genomically characterizing children with congenital heart disease for copy number changes. NIH/NHLBI U01 HL098163-01 (PIs: Chung and Warburton)

• Genome Scans in Congenital Heart Disease using ROMA.
  The goal of this project is to identify novel genes for susceptibility to congenital heart disease. Drs. Chung and Yeboa clinically evaluate study participants. NIH/NHLBI HL080146-03

• Pediatric Neuromuscular Clinical Research Network.
  As the molecular genetics core for the Pediatric Neuromuscular Clinical Research Network, under the leadership of Dr. Chung, the goal of this project is 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. (SMA Foundation)

• Identification of a novel breast cancer susceptibility gene in Ashkenazi Jewish families.
  The goal of this project is 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. Doris Duke Charitable Foundation Clinical Scientist Development Award (PI: Chung)

• Metropolitan New York Registry of Breast Cancer Families.
  This study is designed is to follow up high-risk families for breast and ovarian cancer risk to identify genetic and environmental factors leading to increased cancer risk. Dr. Chung is a co-investigator. U01CA069398U01 (PI: Mary Beth Terry)

• Autism Treatment Network: Cooperative Multi-Center Program for Research and Treatment of Autism
  The ATN's goal is to develop a model of comprehensive medical care for children and adolescents with autism. The ATN is dedicated to developing better ways to identify, manage and treat the physical health conditions of children with autism. Dr. Yeboa is clinical geneticist for evaluation and genetic counseling. ATN-CRT-07-02 Whitaker (PI)