Rare Diseases

January 05, 2021

A recent analysis of UnitedHealthcare insurance claims revealed increases of almost 200% for some services between 2001 and 2016.

December 23, 2020

PTC Therapeutics announced the initiation of its third study of 2020 investigating vatiquinone.

December 16, 2020

These data follow a recent announcement from Sio Gene Therapies that the first patient in the high-dose cohort has been dosed.

September 15, 2020

The chief medical officer at Cure SMA spoke to the ongoing work that the organization does in advocating for patients with spinal muscular atrophy, particularly for newborn screening.

February 07, 2020

This additional application, supported by data from the GWPCARE6 trial, seeks to expand the indication of cannabidiol to include seizures associated with tuberous sclerosis complex.

November 13, 2019

Study data demonstrates that treatment with satralizumab reduces risk of relapses in patients with neuromyelitis optica spectrum disorder.

August 23, 2019

The regulatory agency cited 2 concerns in the complete response letter: the risk of infections related to intravenous infusion ports and renal toxicity.

July 16, 2019

The genomic revolution has led to increasing opportunities to address complex neurodevelopmental conditions, taking a genetics-first approach.

July 03, 2019

The profound consequences of the results guide decisions about testing. Who should be tested? And, just as important, who should not?

June 25, 2019

In this podcast, Heidi Moawad, MD interviews Cesar Ochoa-Lubinoff, MD, MPH, FAAP, about recent encouraging clinical trial results in patients with Angelman syndrome.