by Peter Ciszewski | Nov 27, 2020
Kelly Heger, founder of the AADC Family Network explains why aromatic L-amino acid decarboxylase (AADC) deficiency can often be difficult to diagnose quickly. AADC deficiency is a rare, genetic disorder due to a defect in the dopa decarboxylase (DDC) gene...
by Peter Ciszewski | Nov 26, 2020
Molly and Adam Fleming, the parents of Natalie, a young girl with Rett syndrome, give advice to other Rett syndrome parents. Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal...
by Peter Ciszewski | Nov 24, 2020
Fariba Navid, MD, Associate Professor of Clinical Pediatrics, Keck School of Medicine of USC, gives an overview of Desmoid tumors. As Dr. Navid explains in the video, Desmoid tumors are benign tumors that can grow anywhere on the body into surrounding healthy...
by Peter Ciszewski | Nov 23, 2020
The U.S. Food and Drug Administration (FDA) has approved RNAi drug, lumasiran, to treat primary hyperoxaluria type 1 (PH1). PH1 is a rare genetic condition that is often difficult to diagnose since its main symptom is the development of kidney stones. These...
by Peter Ciszewski | Nov 23, 2020
Pritesh J. Gandhi, PharmD, of Alnylam Pharmaceuticals discusses the company’s hope that lumasiran obtains FDA approval to treat primary hyperoxalaluria type 1 (PH1). A PDUFA date is set for December 3, 2020. PH1 is a rare genetic disease in which excessive oxalate...
