The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Lack of an enzyme prevents movement nerve cells from developing properly, suggesting that the shortage may play a role in ALS, a Northwestern University study reports. The study in the journal Cell Stem Cell was titled “Dissecting the Functional Consequences of De Novo DNA Methylation Dynamics in Human Motor Neuron Differentiation and…

The brain’s smallest blood vessels stimulate the growth of spinal cord nerve cells at an early stage of their development, researchers at Southern California’s Cedars-Sinai group report. Their discovery, made with a tiny biological chip, could help shed light on the causes of amyotrophic lateral sclerosis (ALS). The article they wrote…

The interaction between an RNA molecule and a protein is essential for the growth of axons, the portion of movement nerve cells responsible for communicating with other nerve cells, a study reports. Researchers identified the RNA molecule as 7SK and the protein as hnRNP R. The study, “hnRNP R and its…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

Early this morning, Stephen Hawking passed away at the age of 76. While 76 doesn’t seem all that impressive with many living past 100 in this day and age — for Hawking, it was simply remarkable. Stephen Hawking was born on Jan. 8, 1942 in Oxford, England. He grew up…