DNA nanospring measures nerve‑cell motor power for diagnosis
Scientists engineered a DNA nanospring that records the force of the KIF1A motor protein in neurons, distinguishing normal from disease‑linked mutant activity. Read more: getnews.me/dna-nanospring-measures-... #dnanospring #kif1a #neurodiagnostics
Proud to be part of an organization that supports these efforts with the tools and expertise needed to turn possibility into progress. Because rare diseases aren’t rare when they affect someone you care about—or someone just like Gunnar.
#KIF1A #nLorem #RareDisease #Cytiva #PatientStories #Genomics
If NIH funding drops, the rare disease funding will be done of the first to go. Why is this important research if the disease is rare? There are many many rare diseases. The collective of all rare disorders is relatively common. Understanding any neurological disease can illuminate others. #kif1a
This funding decrease is especially disheartening for a disease like KIF1A. The progress has been impressive. A partial treatment is being implemented right now. There is a dramatic improvement but it is far from a cure. But a cure could be coming. #kif1a
The fear that the researchers have is that money is drying up. NIH funding has been extremely difficult for many years. At a 25% pay line the average person has to write 4 grants to get one. At 4% you have to write 25. This essentially means that getting funding is just luck. #kif1a
For any rare disease the first step (after molecular identification) has to be the natural history study. With rare disease, you have to know how the disease progresses. If there is a treatment, the treatment might work but working could just be slowing progression. Need data to show this. #kif1a 3
My impression is that there is a mix of hope and fear. Hope because there are 2 children currently being treated with an ASO. ASOs will not cure this disease but can be a bridge to a true future cure (imo). There are 2 studies to complete natural history studies. #kif1a 2
I am at the KIF1A meeting. KIF1A is a rare progressive neurological genetic disease that is variable in impact based on the exact genetic mutation. To date there are about 400 patients worldwide but I suspect that there are many more undiagnosed. #kif1a 1 of ?
