#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research. From February 5 – April 16, 2022, a team of talented students from Columbia University’s M.A. in Biotechnology program is taking over the Rare Roundup section, but we’re giving them a break this week for Spring Break!
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia
With advances in genome sequencing, diseases can be characterized in multiple ways. Phenotypes describe the symptoms associated with a condition; and genotypes describe the underlying genetic differences. The distinction might be familiar to KIF1A families who have experienced clinical diagnosis of cerebral palsy or other similar disorders before discovering their genetic mutation through genetic testing. This speaks to the power of introducing genetic screens early in patients’ diagnostic journeys. This week we are highlighting a recent genetic study that shows how mutations in different genes can converge on a similar diagnosis. Hereditary cerebellar ataxia describes a lack of muscle control and coordination associated with degeneration of the cerebellum (the “little brain”), a brain region that plays several crucial roles in movement. The symptoms vary widely from person to person, so researchers performed genetic sequencing in 19 families with hereditary cerebellar ataxia and found 13 genes that contribute to individual cases, including KIF1A and KIF1C. The authors explain that the mechanisms of cerebellar ataxia likely vary on the genes that are mutated.
While this study doesn’t provide mechanisms of KIF1A function, it does bring attention to a prominent symptom of KAND: Within our community there are many questions about motor function, particularly walking, in relation to brain imaging diagnostics. What does it mean to have dysfunction in the cerebellum, and what role does it play in their ability to walk? Unfortunately there is no one-size-fits-all answer – both because motor regions in the brain can compensate for one another, and also because the cerebellum’s roles in movement are subtle and multifaceted. Watch the video below to learn more about the cerebellum.
The U.S. just created a big new biomedical research agency. But questions remain
Rare disease communities know the frustration of waiting for advances in biomedical research. The research and development of COVID vaccines in recent years have highlighted institutions’ ability to develop in pace with unmet needs. Last week Congress created and funded the Advanced Research Projects Agency for Health (ARPA-H). The agency has a $1 billion budget over the next three years, which experts hope will enable it to fund innovative biomedical research with short-term contracts. Its next steps are to find a director who will create ARPA-H’s funding and management framework. Among other decisions are whether ARPA-H will exist within the National Institutes of Health, or act as an independent agency. Regardless, the NIH describes ARPA-H’s role as “building high-risk, high-reward capabilities (or platforms) to drive biomedical breakthroughs.” Our hope is that this mandate will also prioritize rare diseases like KAND whose research is often seen as high risk by the biomedical industry. KIF1A.ORG has joined a group of organizations and individuals (including Global Genes, The Assistance Fund and former NCATS Director, Dr. Chris Austin), advocating for the rare disease community’s priorities in ARPA-H. We’ll be hearing a lot more about ARPA-H in the weeks and months to come, and will continue to lend our voice to make sure rare disease communities and our unique needs are met in ARPA-H.