#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.

Research Matters: KIF1A Families Have a Message for Congress

Read the full statement from the KIF1A.ORG leadership team here.

Rare Disease News

FDA grants accelerated approval to first targeted treatment for rare Duchenne muscular dystrophy mutation

“‘The FDA recognizes the urgent need for new medical treatments for serious neurological disorders and we have a long-standing commitment to working with researchers, drug companies and patients to facilitate the development and approval of treatments for rare diseases. …’ said Billy Dunn, M.D., acting director of the Office of Neuroscience in the FDA’s Center for Drug Evaluation and Research.”

2019: the year gene therapy came of age

“After decades of research and clinical trials on a genetic fix to genetic disorders, 2019 saw a historic milestone: approval to bring to market the first gene therapies for a neuromuscular disease in the US and a blood disease in the European Union. … Serge Braun, the scientific director of the French Muscular Dystrophy Association, sees 2019 as a turning point that will lead to a medical revolution.

‘Twenty-five, 30 years, that’s the time it had to take,’ he told AFP from Paris. ‘It took a generation for gene therapy to become a reality. Now, it’s only going to go faster.’”

KIF1A.ORG is heading into 2020 more optimistic than ever before.

CRISPR Vehicles Break Down Barriers to In Vivo Genome Editing

This article discusses recent advancements in different approaches to CRISPR-based genome editing and challenges that remain.

“These remain very early days for in vivo gene editing, as researchers strive to achieve levels of CRISPR efficiency and accuracy that can now be routinely achieved ex vivo. But Wilson believes that such progress will be essential for truly unlocking the clinical potential of this technology—not just in terms of the diseases that can be treated, but also in terms of the patients that can benefit from treatment.”

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