by Peter Ciszewski | Feb 21, 2019
Ron Philip, Chief Commercial Officer of Spark Therapeutics, discusses biallelic RPE65 mutation-associated retinal dystrophy, a rare retinal disorder. The RPE65 gene provides instructions for making a protein that is essential for normal vision. The RPE65...
by Peter Ciszewski | Feb 20, 2019
Pushkal Garg, MD, Chief Medical Officer at Alnylam discusses Primary Hyperoxaluria Type 1 and his company’s investigational RNAi therapy, lumasiran. Primary hyperoxaluria type 1 (PH1) is a rare disorder that mainly affects the kidneys. It results from...
by Peter Ciszewski | Feb 19, 2019
Manuel Litchman, MD, President, Chief Executive Officer at Mustang Bio discusses his company’s clinical program focused on X-linked severe combined immunodeficiency (SCID). X-linked SCID is an inherited disorder of the immune system that occurs almost...
by Peter Ciszewski | Feb 18, 2019
Armando Anido, Chief Executive Officer at Zynerba Pharmaceuticals discusses Fragile X syndrome, a genetic condition involving changes in part of the X chromosome. This condition causes a range of developmental problems including learning disabilities and...
by Peter Ciszewski | Feb 17, 2019
February 28 is the 12th Annual Rare Disease Day. This year’s theme is “bridging health and social care,” and will bring together the rare disease community in various cities across the world, highlighting the need for better medical, social, and support services...
