#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 and highlight progress in rare disease research and therapeutic development.
Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A
The growth of a rare disease community is always bittersweet; we wish there were less cases of KAND. However, as more patients are accurately diagnosed our understanding of the disorder grows and improves the likelihood of successful treatments..
With the emergence of newborn genetic screening many of the KAND Superheroes in our community are children, but we know there are adults with KIF1A mutations who were diagnosed with other disorders before genetic screening was common. We owe a lot to adult Superheroes like Bill Mainini who have generously shared their experiences with the community, and taught us more about disease progression.
In this week’s #ScienceSaturday, scientists in Japan identified a KIF1A mutation in a 37-year-old with developmental delay and neurodegeneration. These symptoms were first observed at 3 years old, and further tracked at 7, 12, 18, and 34 years old. This provides invaluable information on when neurodegeneration impacts certain brain regions: For example, cerebellar degeneration occurred early, while cortical loss wasn’t observed until 18 years. This could help us understand intervention windows for therapeutics.
The patient also experienced symptoms that aren’t as common in the literature, including bladder dysfunction; documenting these symptoms can inform clinicians, caregivers, and patients as they navigate KAND symptoms.Every KAND Superhero has different experiences, but case studies that look at long-term disease progression in adults provide an important piece of the puzzle that our community is striving to solve. It’s why family involvement in the Natural History Study is among our greatest accomplishments.
Luke Rosen on NewYorkBIOs Virtual Breakfast Series
Last week KIF1A.ORG Founder Luke Rosen met with NewYorkBIO to discuss his family’s KAND journey, KIF1A.ORG’s founding, and the challenges and opportunities in rallying families, clinicians, scientists, and industry experts around the common goal of curing rare diseases like KAND.
KIF1A.ORG is featured in #RareAsOne short film
As part of the Chan Zuckerberg Initiative’s Rare as One Grant, KIF1A.ORG and the TESS Research Foundation were featured in a short film describing patient advocacy by rare disease families. We are grateful for the opportunity and for the role that CZI has played in the progress we’ve made from an unknown disease to a community reinforced by experts and stakeholders across the world.