We had a successful 1st DYRK1A Family Meetup that was held in Cincinnati Ohio. There were 10 families in attendance with approximately 40 people all together. The weekend of gathering started Friday evening.........
As we celebrate Rare Disease Day, I would like to bring attention to how rare disease research can help better understand more common conditions and how researching common conditions can help rare diseases. I will do that be using DRYK1A as an example.
When I think of my daughters 18 year diagnostic odyssey and the well-known saying that is shared in the rare disease community about what physicians are taught; “When you hear hoof beats, think horses, not zebras” thinking horses or zebras didn’t work for us when we heard hoof beats. The rare disease community needs physician to be aware of zebras when they hear hoof beats but what about unicorns they make hoof beat sounds too. Have you ever seen a unicorn?
DYRK1A is one of the 100+ genes mentioned in this CBS segment. Though DYRK1A or any other genes aren't specifically mentioned in the segment it is in fact one of the genes found in the study they were talking about.
Microcephaly is one of the main features in individuals who are affected by one of their DYRK1A genes being disrupted. From medical journals at this time it appears to be approximately 95% have Microcephaly.
In October 2014 Nature published an article about disruptive genes found in Autism. It described the findings of a large study using exome sequencing on nearly 2500 patients with Autism Spectrum Disorder (ASD).