Heritable Thoracic Aortic Disease Genes: From VUSs to Gene Specific Management with Dianna M. Milewicz, MD, PhD

• [Recording unavailable]

  
  Up to 25% of individuals with thoracic aortic aneurysms or acute aortic dissections have a family history of the disease whether or not they have features of a syndrome. Heritable thoracic aortic disease is due to mutations in a number of genes. With each gene, there are differences in the aortic disease presentation, risk for other vascular diseases, and additional systemic features. Although pathogenic variants can be identified in most of the genes, there are many variants in HTAD genes that cannot be classified. More recent studies indicate that a subset of these VUSs may contribute to thoracic aortic disease but without the high penetrance of pathogenic variants.

  

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  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Dianna M. Milewicz, MD, PhD | Presenter

   

Dianna M. Milewicz, MD PhD, is the President George H.W. Bush Chair of Cardiovascular Medicine, Director of the Division of Medical Genetics and Vice-Chair of the Department of Internal Medicine at the University of Texas Medical School at Houston. She completed her postgraduate training in internal medicine, specialized further in cardiology and medical genetics, and forged a career in translational studies focused on genetic predisposition to vascular diseases. Her research team identified many of the genes for inherited thoracic aortic disease and she organized the International Montalcino Aortic Consortium to define the phenotype associated with these genes. More recently, she has launched studies to investigate the genetic causes of childhood strokes. Dr. Milewicz has received numerous honors and awards for her research, including the Antoine Marfan Award from the Marfan Foundation, the Doris Duke Distinguished Clinical Scientist Award, and the University of Texas Presidential Scholars Award for Excellence in Research. She has been inducted into the American Society of Clinical Investigation and the Association of American Physicians. Dr. Milewicz is also committed to training physician scientists and have served as the Director of the M.D./Ph.D. Program offered jointly between the University of Texas Health Science Center at Houston and MD Anderson Cancer Center institutions for over 10 years.

Tami Johnston, MS, LCGC | Moderator

   

Tami Johnston graduated from Tulane University with a B.S. in Cell and Molecular Biology and received her M.S. in Genetic Counseling with Distinction from California State University, Northridge. During her graduate training, Tami's clinical rotation sites included Cedars-Sinai Medical Center, Children’s Hospital Los Angeles, and the University of California, Los Angeles Familial Cancer Registry & Genetic Evaluation Program. She then embarked on her career at Alfigen, The Genetics Institute, where she worked in both clinical and laboratory settings. She spent several years as a Laboratory Genetic Coordinator at Genzyme Genetics prior to joining Ambry Genetics in 2011. At Ambry, she began in General Genetics Reporting before transitioning to Cardiology Reporting and currently manages the Cardiology Reporting Genetic Counseling team. She is passionate about cardiovascular genetics and promoting organ donation.