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Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…
Great Ormond Street Hospital (GOSH) Charity and Sparks are investing £2.5 million (about $3.5 million) in 11 medical research projects that will investigate rare childhood diseases, including Dravet syndrome. The GOSH Charity and Sparks National Call is a U.K. initiative to support medical research into pediatric rare diseases,…
Controlling a biological reaction that stabilizes part of the sodium channel in nerve cells can become a new approach to prevent epileptic seizures, according to a mouse study. This reaction, called neddylation, stabilizes the NaV1.1. subunit of the sodium channel, in which mutations are responsible for the development of Dravet syndrome.
At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…
In a survey of physicians and families at a rare pediatric epilepsy center, teleconsultation appointments were found to be effective and convenient, although the absence of physical exams and in-person evaluations were seen as definite drawbacks. “Despite some limitations, it is most likely that TC [teleconsultation] become a new part…
The Dravet Syndrome Foundation (DSF) is accepting applications for its Patient Assistance Grants (PAG) program that provides financial aid to people with Dravet syndrome who need medical equipment, therapy devices and educational tools. Since 2009, the PAG program runs from March 1 to Dec. 1 or until the funds…
To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…
Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…
The biopharmaceutical company Zogenix is introducing a Dravet syndrome community photo-sharing campaign and contest to benefit the Dravet Syndrome Foundation and the Epilepsy Foundation. U.S. families of Dravet patients whose seizures are treated with Fintepla (fenfluramine) — an add-on therapy developed by Zogenix — may enter the…
Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…
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