John A. Phillips III, MD, gave a talk titled “Solving undiagnosed disease mysteries” at HudsonAlpha on May 9. Dr. Phillips is a professor of pediatrics and professor in the Division of Medical Genetics and Genomic Medicine at Vanderbilt University School of Medicine.
A clinical, biochemical and molecular geneticist, Dr. Phillips has diagnosed, treated and cared for many children and adults with genetic diseases including inborn errors of metabolism. He is the principal investigator on clinical trials to treat achondroplasia, fatty acid oxidative disorders, and phenylketonuria (PKU) and a co-investigator on Dr. Blackwell’s PO1HL092870 titled “Genetic Basis of Pulmonary Fibrosis.” Dr. Phillips’s past research focus has been on disorders that have heterogeneous causes, reduced penetrance and variable expression (such as familial growth hormone deficiency, hereditable pulmonary arterial hypertension and familial pulmonary fibrosis). He is a co-principal investigator of the Vanderbilt Center for Undiagnosed Diseases that is a part of the NIH Undiagnosed Disease Network.
Liz Worthey, PhD, will host the Wednesday seminar. More information on HudsonAlpha Research Seminars, including an upcoming schedule, can be found at hudsonalpha.org/seminars.
