Larry Luxner,  —

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

SMA expert Dr. Arthur Burghes is calling for newborn screening for spinal muscular atrophy, and the urgent approval of new therapies for treating the disease. Burghes' remarks came in a keynote lecture at the International Scientific Congress on Spinal Muscular Atrophy in Kraków, Poland. The Jan. 25-27 event is the first in Europe dedicated specifically to the disorder, which occurs in roughly one in every 10,000 births. Burghes, a professor of biological chemistry and pharmacology at Ohio State University College of Medicine, spoke on the subject “Where Have We Come, Where Do We Go?” The SMA expert, who has a PhD from the University of London and did post-doctoral work at the University of Toronto, has spent 30 years studying the disorder. “During the time I’ve been researching SMA, we’ve gone from not knowing the gene [underlying the condition], to identifying the gene, to having mice models of the disease, to having large animal models, to actually having therapies,” Burghes told SMA News Today in phone interview Jan. 18 from his lab in Columbus, Ohio. “When those therapeutics are given early in the disease course or even before symptoms occur, they have a major effect on the progression of the disease.” Burghes also asked in his keynote, “what else should we put with SMN that could further improve treatments of both early and late symptomatic patients, what would those look like, should we put things that enhance muscle function together with an SMN inducer, and how do therapies get better from what they are?” Last year, the U.S. patient advocacy group Cure SMA started a grassroots campaign to convince all 50 states to pass legislation requiring newborn screening for SMA. “If you have newborn screening in place, and you treat everybody, you will probably have fewer issues,” Burghes said. “That’s why getting newborn screening onto the books and in place is extremely important.” So far, only Missouri and Minnesota have passed legislation requiring the testing. Other states, including Massachusetts, New York and Utah, are planing to implement it, and a bill is pending in the Ohio Legislature to do likewise, he said. “But in Europe, it’s more complicated. It seems to depend on which country you’re talking about,” Burghes said. “I have not seen anything come up in a legislative manner for SMA newborn screening, but I do feel the U.K. is beginning to move in this direction. So is France.” He added that “in Denmark, the authorities have decided that the benefit from Spinraza across all SMA types is not sufficient to justify the cost. But the effects are so dramatic in a newborn that this, in my view, should overturn that decision."

Nearly 400 people have registered to attend Europe’s first-ever conference on spinal muscular atrophy, a rare neurological disease believed to affect between 21,000 and 25,000 people across the continent. The International Scientific Congress on Spinal Muscular Atrophy, set for Jan. 25-27 in the historic Polish city of Kraków, is…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…