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Multimodal analysis that incorporates data obtained from different methodologies seems to be the best approach to build a solid classification system for SCN1A genetic variants associated with Dravet syndrome, a study says. The study, “Multimodal analysis of SCN1A missense variants improves interpretation of clinically relevant variants in…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

A deep understanding of the natural history of Dravet syndrome, an early diagnosis, carefully considered treatment, and regular follow-up care are crucial to attain positive clinical outcomes, according to a case report study. The study, “Retracing the natural history of Dravet syndrome: Report and review of literature,” was…

The National Institute of Neurological Disorders and Stroke (NINDS) has awarded NeuroCycle Therapeutics a $500,000 grant to test advanced subtype-selective GBAA receptor modulators in Dravet syndrome models. The Small Business Innovation Research grant to evaluate NCT10004 and NCT10015 furthers the pharmaceutical company’s efforts…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Next-generation sequencing techniques have revealed that genetic mutations in the KCND3 gene may be responsible for more types of epilepsy than previously thought, and new candidate genes associated with Dravet syndrome have been identified, a new study reports. The study, “Gene mutational analysis in a cohort of Chinese children…

Zogenix has announced the submission of a New Drug Application (NDA) to the U.S. Food and Drug Administration (FDA) and a Marketing Authorization Application (MAA) to the European Medicines Agency (EMA) for Fintepla (ZX008), its investigational compound for the treatment of epileptic seizures associated with…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…