Joy D. Cogan, PhD
Vanderbilt University, 1991
Postdoctoral Research Fellow-Vanderbilt University - Medical Genetics
Molecular basis of rare genetic disorders in undiagnosed families and the genetics of telomere biology disorders
Dr. Cogan's lab has studied the molecular basis of genetic disorders for over 30 years examining the causes of disease in a variety of conditions including isolated growth hormone deficiency, combined pituitary hormone deficiency, heritable pulmonary arterial hypertension, and familial interstitial pneumonia. Her current studies are focused on patients with undiagnosed diseases and families with telomere biology disorders.
As part of the Vanderbilt Clinical Undiagnosed Disease Network Site (VCUD), her lab uses whole genome sequencing analysis and other molecular techniques to identify the molecular cause of disease in patients and families that have previously gone undiagnosed. In some cases, new phenotypes are characterized or disease-causing genes are identified. The Cogan lab is also investigating the genetic basis of impaired telomere maintenance in families with Telomere Biology Disorders (TBDs) using telomere measurements and whole exome/genome sequencing analysis.