#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 Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Calling All Researchers!

For our October Research Roundtable meeting, please join us for a KIF1A.ORG “Think Tank” session. In this discussion-based meeting, our goal is to address gaps in our KIF1A knowledge that limit research progress and therapeutic development. By virtually putting our heads together we will tackle what we do and do NOT know about KIF1A in an effort to support and inform outstanding questions to navigate forward progress.

Are you in? To RSVP to our October 22 call CLICK HERE!

Recent KIF1A-Related Research

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Did you know that an estimated almost 50% of patients diagnosed with a severe developmental disorder (DD) are thought to have a de novo mutation in one of their genes encoding for a protein? While this is a mind-boggling number, it also highlights a diagnostic issue regarding DDs: even with hundreds of DD-associated genes identified, most patients are undiagnosed or misdiagnosed. How can this issue be addressed? Find a way to identify new target genes associated with DDs! This was the main goal in the paper we are featuring this week, spearheaded by a group of researchers from the UK and the Netherlands. This paper describes a massive study that integrated healthcare and genetic sequencing data from 31,058 parent off-spring trios. From this comprehensive amount of data, researchers were able to identify 285 genes that were significantly associated with developmental disorders. Of this population of genes 28 of them had not been associated with developmental disorders, highlighting the diagnostic power of this form of data analysis. Furthermore, the authors of this paper make an important case about how our understanding of the number of genes associated with developmental disorders is directly linked to accessibility of clinical diagnostic datasets.

One specific element of this study that caught our eye looked at specific protein domains that are enriched with de novo mutations across DD-associated genes. As a reminder, a domain is a part of a protein that has a distinct 3D structure, or shape, and is often responsible for a certain protein function. It turns out that one of these protein domains enriched with de novo mutations is… the kinesin motor domain! As we know that the majority of de novo KAND mutations occur in the KIF1A motor domain, this finding aligns well with our current understanding of KAND.

Rare Disease News

‘I never saw stars before’: Gene therapy brings back 8-year-old Canadian boy’s sight

This week we are sharing the story of Sam, an 8-year old boy who was recently treated with gene replacement therapy to improve his vision. Sam was diagnosed with a rare form of blindness called retinitis pigmentosa (RP). Like KAND, RP is a genetic disorder resulting from the mutation of a specific gene known as RPE65. By introducing a non-mutated RPE65 gene using a viral vector delivery system cells in the eye are then able to produce this non-mutated protein, restoring vision and preventing disease progression. Recently, Canada has approved the first-ever gene replacement therapy for RP known by the brand name Luxturna which will be of great benefit to kids like Sam, 28 of which are located at the Sick Kids Hospital in Toronto. To learn more about Sam’s story and the benefits, considerations and challenges of gene therapy check out the video below!

Study identifies brain cells most affected by epilepsy and new targets for their treatment

A recent publication led by researchers at the University of Copenhagen is expanding the way we think about epilepsy and epileptogenesis. Specifically, this study aimed to find dysfunctional neural subtypes (specific types of neurons) by comparing non-epileptic brain samples to multiple temporal lobe brain epilepsy samples. One of the most impactful parts of this study is the massive number of cells analyzed. In fact, researchers analyzed over 110,000 neurons which makes this the largest data set of its type published for a brain disorder so far! With this level of investigation, specific populations of neurons were identified that exhibit distinct differences in epileptic brain samples vs. non-epileptic brain samples. This discovery presents new potential therapeutic approaches for epilepsy targeted towards specific types of malfunctioning neurons. If you’d like to brush up on epilepsy basics before reading this article have a look at the short video below.

Leave a Reply

Your email address will not be published. Required fields are marked *