#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley and Science Communication Director Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Calling All Researchers!

Calling all researchers: As a part of KIF1A.ORG’s Research Roundtable series, we invite you to join an open forum entitled “Help KIF1A.ORG Help You.” Want to get involved with KIF1A research and need help getting started? Have questions about how our organization supports researchers? Eager to connect your basic science research to clinical therapeutic discovery? Need help creating a pathway to build biotech/industry partnerships? We want to hear from YOU!

Are you in? To RSVP to our August 26 call CLICK HERE!

Let’s Talk KAND with Dr. Wendy Chung

This week we are highlighting a recent CheckRare interview with Dr. Wendy Chung. Dr. Chung heads our main clinical team at Columbia University and is the leading clinical expert on KIF1A Associated Neurological Disorder. This four-minute interview is jammed packed with information on KAND clinical presentation and the molecular biology behind KAND. Additionally, Dr. Chung discusses our current status regarding KAND therapeutic discovery, highlighting the Chung Lab’s recent partnership with Ovid Therapeutics. Check out the video below to learn more!

Recent KIF1A-Related Research

Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data

Yes, you read that title correctly. We’re talking about grey hair this week! What does this hallmark of aging have to do with KIF1A? Apparently quite a lot according to this recent study out of Jagiellonian University in Poland. In this study, researchers used whole exome sequencing data to identify genes with single nucleotide polymorphisms, or SNPs, that are associated with gene greying in a European population. SNPs are the most common type of genetic variation between people and occur due to changes in a single DNA building block. The KIF1A gene was identified as one of two novel genes with SNPs associated with hair greying!

While we tend to report on the pathogenic consequences of changes in our DNA, like we see with KIF1A and KAND, it is important to remember that not all genetic variation results in a clinical manifestation. In fact, we ALL have naturally occurring variation in our own genetic code. This is what make me “me,” and you “you”! Furthermore, this study highlights the analytical power of SNP targeted analysis of generated from whole exome sequencing data. Check out the video below to learn more about the process of sequencing one’s genome!

Rare Disease News

FDA Approves Targeted Treatment for Rare Duchenne Muscular Dystrophy Mutation

Great news for the Duchenne Muscular Dystrophy (DMD) community! The US FDA has recently granted accelerated approval for an exon skipping drug designed to target specific DMD mutations. An exon is a segment of DNA in a gene that contains the information needed to make part of a specific protein. Exon skipping is a technique in which a part of a gene is “skipped” over while the machinery inside of our cells is reading our DNA to make a specific protein. If a pathogenic mutation is located within the exon that is skipped, then that part of the protein never gets produced and the mutation is never introduced. This technique may not work for every gene because it requires that the skipped segment of the gene is not necessary for protein function. However, we are always encouraged by stories of accelerated drug approval for rare disease communities!

“Viltepso was approved under the FDA’s accelerated approval pathway, which provides for the approval of drugs that treat serious or life-threatening diseases and generally offer a meaningful advantage over existing treatments. Approval under this pathway can be based on adequate and well-controlled studies showing the drug has an effect on a surrogate endpoint that is reasonably likely to predict clinical benefit to patients (i.e., how patients feel or function or whether they survive). This pathway provides earlier patient access to promising new drugs while the company conducts clinical trials to verify the predicted clinical benefit.”

Therapeutic Oligonucleotides on the Rise

Oligonucleotides: we hear a lot about them in therapeutic language but what are they (besides a bit of a tongue-twister)? Oligonucleotides, or oligos as they are often referred to, are very short strings of DNA molecules. While simple in concept, oligos are an extremely powerful tool with a wide range of research applications. Most recently we have been discussing a type of oligo called an antisense oligonucleotide (or ASO), highlighting our recent partnership with Ionis Pharmaceuticals. This short article provides a great overview of the history of oligonucleotide therapies, discussing the successes, challenges, and current state of oligo therapy development. As mentioned in this article, over 100 therapeutic oligos are in the clinical pipeline with more in the pre-clinical stages of development. Oligos are indeed on the rise!

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