#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.

Recent KIF1A-Related Research

New Research Simplified Resource from KIF1A.ORG

We teamed up with KIF1A.ORG Research Team member Dominique Lessard to create this family-friendly resource to help you understand the basic science behind KIF1A. In this 12-minute video, we’ll explore:

  • What is KIF1A and how does it function?
  • What is a KIF protein?
  • How does KIF1A function in our bodies?
  • How could mutations in the KIF1A gene influence KIF1A function?

We thank Dominique Lessard of Berger Lab at University of Vermont for advancing KIF1A research and engaging families in scientific discovery.

Rare Disease News

Early Report: Baby Treated with Gene Therapy for Deadly Tay-Sachs Disease Appears to Stabilize

“It’s a very early report, from just two patients, only a few months after treatment. But UMass Medical School Dean Terence Flotte this week shared at a conference what could be landmark news about a terrible genetic disease: Two young patients with Tay-Sachs disease showed no ill effects from a new gene therapy that aims to correct the defect at the heart of the disease.”

Tay-Sachs is a devastating neurodegenerative disease. In this trial, the vector* was successfully administered directly into the brain for the first time ever (by an injection into the thalamus). While more time is needed to determine the efficacy of the treatment, this new development is encouraging.

*Bonus Content

Wondering what a vector is? In this video, we learn that vectors are carriers that deliver therapy into cells. Viruses are often used as vectors, “because they’ve evolved to be very good at sneaking into and infecting cells,” but the infectious part of the virus is removed to deliver the therapy without making the patient sick.

Machine Learning’s Next Frontier: Epigenetic Drug Discovery

“Scientists at Sanford Burnham Prebys Medical Discovery Institute have developed a machine-learning algorithm that gleans information from microscope images—allowing for high-throughput epigenetic drug screens that could unlock new treatments for cancer, heart disease, mental illness and more.”

High-throughput screening has been part of our research strategy to discover therapeutics for KAND. This automated process uses technology to screen thousands of known compounds for potential therapeutic options much faster than what can be done at a human pace. If epigenetic-based therapies become a potential therapeutic option for KAND, the method developed by these researchers could expedite the search.

Custom CRISPR Therapies Could Be Closer Than You Think

“Rich Horgan founded a nonprofit called Cure Rare Disease, which has assembled a team to develop a custom CRISPR therapy for his brother, Terry Horgan, who has Duchenne muscular dystrophy.”

Inspired by researchers who developed a tailored drug in less than one year for a girl living with Batten disease (a story we covered in our first #ScienceSaturday post), Rich and Terry are another powerful example of how families driven by their urgent need for treatment can motivate scientists to create innovative and impactful strategies to accelerate scientific discovery.

Brothers Rich and Terry Horgan. Credit: Cure Rare Disease

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