Challenges
Experts share their insights in diagnosing and managing rare conditions
Crysvita (burosumab-twza) Approved for the Treatment of X–Linked HypophosphatemiaThe Food and Drug Administration (FDA) approved Crysvita (burosumab-twza) as the first treatment for patients with x-linked hypophosphatemia (XLH). Ultragenyx Pharmaceutical and Kyowa Hakko Kirin developed Crysvita, which is an antibody that blocks fib …
Treating Myeloproliferative Neoplasms (MPNs)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 tim …
Diagnosing X-Linked Retinoschisis (XLRS)David G. Birch, PhD, Chief Scientific and Executive Officer and Director of the Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest discusses how Optometrists and Ophthalmologists typically diagnose X-linked retinosch …
Treatment Options for Myeloproliferative NeoplasmsEllen Ritchie, MD, Associate Professor of Clinical Medicine, Weill Cornell Medical College, discusses the available treatment options for Myeloproliferative Neoplasms (MPNs). MPNs are rare, chronic blood cancers. Chronic conditions last for a long peri …
Diagnosing Achondroplasia (Short-Limbed Dwarfism)https://www.youtube.com/watch?v=KuKExep2exo Luca Santarelli, MD of Therachon discusses diagnosing Achondroplasia. Therachon’s lead pipeline candidate, TA-46, a novel protein therapy in development for achondroplasia, the most common form of short-limbe …
Challenges of Diagnosing Rare DiseasesMelissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses the challenges of diagnosing rare diseases. She uses Krabbe disease, Nieman-Pick disease, and 22q11.2 deletion syndrome as …
Krabbe DiseaseMelissa P. Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, New York City discusses Krabbe disease (also called globoid cell leukodystrophy), a degenerative disorder that affects the nervous system. It is c …
Being Diagnosed with Charcot-Marie-Tooth DiseaseCharcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physicians who first identified it in 1886 – Jean-Martin Ch …
Pulmonary Alveolar Proteinosis (PAP) Overviewhttps://www.youtube.com/watch?v=HzS2hk_GN7c Rob Neville of Savara Pharmaceuticals discusses Pulmonary Alveolar Proteinosis (PAP) is a rare lung disease, which affects approximately 7 persons in a million people. It is characterised by the build-up of g …
Polycystic Kidney Disease (PKD) Overviewhttps://www.youtube.com/watch?v=GWt9zsPAF4Y&t=13s Lorenzo Pellegrini, PhD, Founder and Chief Executive Officer of Palladio Biosciences discusses Polycystic kidney disease (PKD) is the most common inherited genetic disease in humans. It exist …