#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dylan Verden of KIF1A.ORG summarizes newly published KIF1A-related research and highlights progress in rare disease research and therapeutic development.
Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients
In this week’s article, researchers in Brazil performed genetic sequencing on 87 patients with cerebellar ataxia: This group of disorders is associated with a lack of coordination, caused by dysfunction or degeneration of the cerebellum.
By refining diagnosis with genetic sequencing, the authors were able to identify a dozen genetic mutations contributing to cases of cerebellar ataxia. This included KIF1A, as well as genes associated with ALS (KIF5A), hereditary spastic paraplegias (SPG11), and Huntington’s (HTT), highlighting the overlap of symptoms across these disorders.
The study identified KIF1A mutations in two patients: One patient with a S247L mutation had ataxia starting in adolescence. A second patient with late onset ataxia in their 50s had a novel frameshift mutation at amino acid 1240. This highlights the heterogeneity of KAND, and the importance of identifying KIF1A mutations in other rare disease groups.
Bespoke Gene Therapy Consortium Publishes First ‘Playbook’ to Bring Rare Disease Programs to Clinic
Gene-based therapy is still a new arena; even as scientists across the world work on gene therapies, a major question is how to best prepare these treatments for clinical trials and regulatory approval. And just like it can be challenging to play a new game without knowing all the rules, one hurdle for gene therapy research and development has been a lack of a playbook. This week the Bespoke Gene Therapy Consortium, dedicated to finding best practices across gene therapy solutions, released its first publication, a playbook for advancing rare disease gene therapy programs through the Food and Drug Administration (FDA’s) regulatory process. The resource includes guidance on preclinical research, gene therapy manufacturing, and preparation for FDA meetings. Having a playbook for best practices in gene therapy development could make the process more navigable for industry, researchers, and patient groups.