#ECRD2018 – Genome Editing Might Be ‘Cure’ for Rare Diseases But Ethical Guidelines Needed, Panel Says

Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation? What about stem-cell research, three-parent…

I know I have no control over how quickly or slowly my ALS progresses, but I can try to hold off the negative effects that come from long periods of sitting and shallow breathing. Because most people with ALS experience breathing difficulties somewhere along the course of their…

Researchers discovered that a small region of ataxin-2 — a protein known to be involved in amyotrophic lateral sclerosis (ALS) — is crucial for both long-term memory and the formation of toxic aggregates that lead to neurodegeneration. The study with that finding, “RNP-Granule Assembly via Ataxin-2 Disordered…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

A gene therapy that might treat familial amyotrophic lateral sclerosis (ALS), an inherited form of the disease, was recently granted orphan drug status by the European Medicines Agency (EMA), an award that carries incentives to promote potential treatments for rare diseases. The investigative therapy is in preclinical development…

Two years after approving it, the 28-member European Union will begin enforcing its General Data Protection Regulation (GDPR) — a tough new law that aims to protect the EU’s 512 million citizens, including rare disease patients, from having their medical records misused, sold, or subject to extortion by hackers, third…

Clinigen Group recently partnered with Mitsubishi Tanabe Pharma Corporation to launch an early access program in Europe for Radicava (edaravone), an intravenous treatment for amyotrophic lateral sclerosis (ALS). The therapy is not yet approved in Europe, but the early access program will help make it available…

Voyager Therapeutics presented new data from a study in an animal model of  its clinical candidate VY-SOD101, showing the therapy is effective as it targets the most common cause of familial amyotrophic lateral sclerosis (ALS). The presentation, along with another preclinical program data presentation on a Huntington’s disease therapy…

There’s no doubt about it — living with ALS has sure slowed me down! And if you have ALS, you probably feel your life slowing down as well. It’s good to know that you’re not alone. Moving, eating, and talking more slowly, and feeling fatigued are common…

A new mouse model developed by researchers at Karolinska Institute in Sweden revealed a molecular mechanism that may contribute to the development of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) or multiple sclerosis. The mouse model was described in the study, “Fatal demyelinating disease…