#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.

NeuCyte Joins KIF1A.ORG’s Mission to Accelerate Therapeutic Discovery

Earlier this week, we announced NeuCyte as the first partner of KIF1A.ORG’s Treatment Accelerator Program to fast-track therapeutic discovery for KIF1A Associated Neurological Disorder (KAND). This collaboration will make significant leaps in our understanding of KAND and drug discovery capabilities. Because the KIF1A.ORG community rallied to fund this initiative, we’re able to make this resource openly available to the scientific community to speed up and expand our search for treatments.

Recent KIF1A-Related Research

Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: de novo mutation of the KIF1A gene, a new hope in prognosis

In this “Letter to the Editor” style scientific article, a team of clinicians from Spain recount the experience of diagnosing a 7-year-old boy with a R216H KIF1A mutation. This article is a great example that walks us through a clinician’s diagnostic process, starting with a patient presenting with symptoms, leading to a deep investigation of diagnostic tests, and finally genetic testing to confirm the root cause of clinical symptoms: a KIF1A mutation. This type of published clinical write up is highly impactful in our attempts to raise awareness for KAND as it highlights many important steps in the diagnostic odyssey of KAND patients.

The authors go on to give an update on the patient featured in this paper, describing how this specific KIF1A mutation impacts aspects of daily life. It is rare for a research-focused paper to also feature these meaningful, albeit less quantitative, measurements of KIF1A mutation impact and we are very encouraged to see this mix of clinical data and patient outcomes featured simultaneously. Lastly, these authors highlight the importance of early use of exome sequencing (a type of genetic testing) in clinical diagnosis, as this may save valuable time and resources for clinical intervention. Click the button below to read this short paper. Want to learn more about the impacts of KAND mutations on daily life? Check out our “What Matters Most to KAND Families” session from our 2021 KAND Family and Scientific Engagement Conference this past July!

Rare Disease News

Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities

With clinical trial development at the forefront of our minds, it is helpful for us to consider what potential challenges and opportunities we may encounter in this process. This article, written by a team of experts including clinical researchers, preclinical scientists and industry partners, provides important insight on future avenues for clinical trial development related to rare neurodevelopmental disorders (RNDDs). In this commentary article, many important topics are discussed including: when is it best to clinically intervene for RNDDs, what impact do placebos have on RNDD clinical trials, how do we assess and define clinical outcomes, and which types of biomarkers should be considered in these trials? Click the button below to read on about clinical trial development for RNDDs. Want to learn more about the clinical trial process? Check out our new Clinical Trials 101 page featured below!

Scientific, moral imperatives underlie including rare disorders in the ARPA-H mandate

In this piece for STAT, Matthew Might, Ph.D., amplifies the voices of those in the rare disease community calling on the U.S. government to include rare disorders in a proposed agency, the Advanced Research Projects Agency for Health (ARPA-H). As the father of a boy who died from a rare genetic disorder called NGLY1 deficiency and a computer scientist turned precision medicine trailblazer, Dr. Might makes a compelling case for the scientific and moral justification for rare diseases to be included in this new agency.

“The moral imperative to include rare diseases in ARPA-H’s mission is clear from their scale: while individually uncommon, the many thousands of known rare diseases collectively affect nearly 10% of the American population — more than those who have cancer at any one moment.”

Matthew Might, Ph.D., Bertrand’s dad and director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham and a senior lecturer at Harvard Medical School

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