#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.

KIF1A.ORG Updates

Welcome, Dr. Dominique Lessard, to the Team!

In case you missed it, this week we announced the hire of Dr. Dominique Lessard as KIF1A.ORG’s Science Communication Director effective April 1, 2020. With Dr. Lessard on board, KIF1A.ORG is even better positioned to fuel efficient and impactful collaboration toward treatment for this generation of KAND patients.

KIF 2020 Postponed

After careful consideration, KIF1A.ORG announced yesterday to our families we’ve decided to postpone the KIF Impact Forum (our newly named family and scientific conference), which was tentatively scheduled in June, due to COVID-19. We’re doing everything we can to make sure our gathering is safe and accessible to the community. We’ll share updates as more information becomes available.

Rare Disease News

Huntington’s antisense drug marches into clinic

“Two new startups, Triplet Therapeutics and Atalanta Therapeutics, are pushing to bring genetic medicine to patients with Huntington’s disease, adding momentum to an industry drive that was galvanized last year by a report that an antisense oligonucleotide, RG6042, significantly lowered levels of mutant huntingtin protein (mHTT) in the cerebrospinal fluid of patients in an early-phase trial.”

The author goes on to say “an air of cautious optimism now pervades the field” now that multiple therapies for Huntington’s disease are in or near clinical trials.

Gene therapy conversion of striatal astrocytes into GABAergic neurons in mouse models of Huntington’s disease

Researchers reprogrammed astrocytes (a type of cell in the central nervous system) into new neurons in mouse models of Huntington’s disease. As a result, the mice had improved motor function and extended lifespans. Paired with a therapeutic to correct the gene mutation (which causes neurons to die), this approach to generate neurons could be the one-two punch needed for an effective treatment. The authors conclude:

“The significant extension of life span in the R6/2 HD mouse model after our NeuroD1 + Dlx2 gene therapy treatment suggests that a potential disease-modifying therapy is now on the horizon for HD and other neurodegenerative disorders.”

n-Lorem Foundation receives additional support for providing “n of 1” experimental antisense medicines to treat patients with ultra-rare diseases 

“The n-Lorem Foundation announced today it has received an initial pledge of $500,000 from Mark Lampert in support of the n-Lorem Foundation’s efforts to provide advanced, experimental RNA-targeted medicines free of charge for life to patients living with ultra-rare diseases.” 

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