by Peter Ciszewski | Sep 23, 2019
Jansen’s metaphyseal chondrodysplasia is an extremely very rare autosomal dominant disease. It is a type of skeletal dysplasia characterized by short-limbed short stature, waddling gait, bowed legs, contracture deformities of the joints, short hands,...
by Peter Ciszewski | Sep 20, 2019
At the American Academy of Neurology (AAN) annual meeting in Philadelphia, PA, we talked with Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program about the recent clinical data they presented at the meeting. Dr. Schobel said, “It is...
by Peter Ciszewski | Sep 19, 2019
Lennox-Gastaut syndrome (LGS) is a rare epileptic disorder that is difficult to treat. Daniel Barber is chief operating officer at Aquestive Therapeutics, describes LGS and why there is a need for better treatment options for this condition. LGS typically begins...
by Peter Ciszewski | Sep 18, 2019
Rare disease drug development often begins with an investment from a patient organization. One leader in that area of drug development is Parent Project Muscular Dystrophy (PPMD), a non-profit organization focused on ‘ending’ Duchenne muscular dystrophy (DMD). The...
by Peter Ciszewski | Sep 16, 2019
Bobby Gaspar, MD, chief scientific officer at Orchard Therapeutics describes the origins of the company and his involvement. Dr..Gaspar is a professor of paediatrics and immunology at the UCL Great Ormond Street Institute of Child Health in London, UK. “As an academic...
