#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, Science Communication Volunteer Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy

Rolandic epilepsy, also referred to as benign Rolandic epilepsy, commonly presents with symptoms such as seizures that involve twitching, numbness, or tingling of the face or tongue and is the most common genetic epilepsy syndrome in childhood. However, a small percentage (1-7%) of children fall into the category of atypical Rolandic epilepsy, presenting with “new types of seizures, cognitive and behavioral disturbances… and clinical syndromes related to electrical status epilepticus in slow sleep (ESES)” or electrical status epilepticus during sleep. In this study, researchers from the Children’s Hospital of Soochow and the Wuxi Children’s Hospital in China aimed to explore and verify candidate genes that are linked to atypical Rolandic epilepsy by using whole-exome sequencing (WES) analysis in a cohort of twenty-four patients with atypical Rolandic epilepsy.

Of the genes identified in this study, only five had been previously reported as causative genes for atypical Rolandic epilepsy. This means that this study was able to identify many novel atypical Rolandic epilepsy-related candidate genes, one of which was none other than KIF1A! In fact, two atypical Rolandic epilepsy patients were identified to have KIF1A mutations, making up over 8% of the study’s cohort. For the KAND community, this news may not come as a shock. In fact, many members of our community have been diagnosed with symptoms related to atypical Rolandic epilepsy such as ESES. However, this study provides an important genetic link between certain KIF1A mutations and atypical Rolandic epilepsy. If you want to learn more about childhood Rolandic epilepsy, check out the video below.

Rare Roundup

How Open Source Software Contributors Are Accelerating Biomedicine

Researchers, clinicians and many fields of science utilize different types of computer software to conduct biomedical research and therapeutic development. But where do researchers find this software and, more importantly, how do they access this software? One way to access these resources is to look for open source software options. What does open-source mean? Open source means that the recipe, blue print, or instructions for any given resource are shared and free for anyone to use. This is a lot like another topic we discuss often at KIF1A.ORG called open science, or science that is accessible to all. Open source software is essential for advancing science and therapeutics by allowing researchers to collaborate and exchange ideas with each other.

Over the last couple of years, the Chan Zuckerberg Initiative launched multiple cycles of an Essential Open Source Software for Science program to support the efforts of open source software researchers under the goal of advancing biomedicine. This article we are featuring today interviews nine of the grantees from this program, showing just how valuable open source software is for advancing science. Want to learn more about open source software and the open source mindset? Check out the video below!

Bristol Myers greenlights neurodegenerative medicine from Evotec pact for $20M

In biotech news this week, a drug discovery collaboration between Bristol Myers Squibb and Evotec resulted in a new small-molecule therapy that may treat neurodegenerative diseases. This incredible success story illustrates KIF1A.ORG’s therapeutic development initiative with our NeuCyte partnership, which will allow us to create a cell-based drug discovery platform specifically for KIF1A Associated Neurological Disorder.

“Evotec said that the small-molecule therapy EVT8683 is ready for clinical development after the FDA cleared a request for human testing. The biotech developed the therapy from its induced pluripotent stem cell drug discovery platform, which screens human models to find new therapies quickly.”

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