by Peter Ciszewski | Apr 18, 2018
Researchers at the National Institutes of Health (NIH) worked with 15 patients from around the world to solve the genetic basis of a rare bone disorder’s origins. The rare disorder, known as melorheostosis (or “dripping candle wax” bone disease) causes excess...
by Peter Ciszewski | Apr 16, 2018
Stefan Weber, CEO of Newron Pharmaceuticals discusses rare disease clinical trials, focusing on his company’s work in Rett Syndrome. Newron is focused on the development of novel therapies for patients with diseases of the central and peripheral nervous...
by Peter Ciszewski | Apr 15, 2018
Ellen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the challenges of treating Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic blood cancers. Chronic conditions last for a long period of time and may never...
by Peter Ciszewski | Apr 15, 2018
Dr. John Maraganore, CEO of Alnylam discusses RNA interference (RNAi), a breakthrough in understanding how genes are regulated in cells. It also represents a completely new approach to drug discovery and development. 5 Key Features of an RNAi Therapeutics Approach 1....
by Peter Ciszewski | Apr 13, 2018
Other Names: Neuronal ceroid lipofuscinosis, NCL Batten disease is a fatal, inherited disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun...
