INFORM Division Head Dr. Jerry Vockley was elected as the Biochemical Genetics Director of the American College of Medical Genetics and Genomics (ACMG).

Last week, our Division Head Dr. Jerry Vockley was elected as the Biochemical Genetics Director of the American College of Medical Genetics and Genomics (ACMG). The ACMG is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. Upon being elected ACMG biochemical director, Dr. Vockley said, “I have been involved in College activities since its founding and am happy to play a larger role in moving it forward during a time of explosive growth in genetic technology and clinical need.” Dr. Vockley will serve the ACMG for six year terms from April 2021 to March 2027.

By |2021-04-21T13:47:27+00:00April 21st, 2021|

Ultragenyx Announces U.S. FDA Approval of Dojolvi™

Ultragenyx Announces U.S. FDA Approval of Dojolvi™ (UX007/triheptanoin), the First FDA-Approved Therapy for the Treatment of Long-chain Fatty Acid Oxidation Disorders Fourth U.S. FDA Approval for Ultragenyx in the Past Three Years – All for Rare Diseases which Previously Had No Approved Therapies Ultragenyx to Host Conference Call Today at 4:00 pm Eastern Time NOVATO, [...]

By |2021-04-13T15:48:20+00:00April 13th, 2021|

Research survey for rare disease patients and their families about impacts of COVID-19

Rare disease patients or their caregivers are invited to complete a 20-minute online survey from home about the ways the novel coronavirus pandemic is impacting people with rare diseases and their families.

By |2020-05-13T14:32:35+00:00May 13th, 2020|

INFORM Advances Research and Treatment of Fatty Acid Oxidation Disorders (FAODs)

Fatty acid oxidation disorders (FAODs) can threaten the lives of infants, children and adults. These inherited metabolic conditions prevent the body from generating cellular energy from fats during times of stress, illness or fasting, and can result in mild symptoms, chronic medical problems or sudden death.

By |2020-05-01T15:55:54+00:00March 25th, 2020|
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