When they say Paris is magical, it’s true.
The ACD was honored to attend the CTD workshop, organized by Dr. Aurore Curie, Dr. Vincent des Portes, and representatives of DeficSience and Xtraordinaire. It’s seldom that a rare disorder can generate enough attention to be included on a conference program, much less, garner the respect and interest from medical experts around the globe to deserve its own dedicated meeting. Continue reading
In May, the ACD met with the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). GAMT was nominated for inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP) by Dr. Nicola Longo, Chief Division of Medical Genetics, University of Utah. The role of the ACHDNC is to determine if a nominated disorder meets their requirements for inclusion on RUSP before the disorder is moved forward for a scientific evidence review. The Evidence Review Board has no more than six months to approve or reject a nominated disorder. If approved by the Evidence Review Board, the disorder moves forward to the Secretary of Health and Human Services for final approval and recommendation to all states. Continue reading
