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 … Continue reading
Created by Simons VIP Connect Simons VIP Connect is studying several single genes and DYRK1A is one of them. To learn more about what Simons VIP Connect is doing visit them at simonsvipconnect.org you can also check out their DYRK1A page. Continue reading
Epilepsy Awareness Month – November It is a good time to put a spot light on seizures in relation to DYRK1A Syndrome, since it’s Epilepsy Awareness Month. Just this month this research article was published “Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities“. In this study they found mutations in … Continue reading
In The Leaflet……… What is DYRK1A syndrome? DYRK1A is a gene that is involved in brain growth. It was identified several years ago but only recognised to be associated with a neurodevelopmental condition in 2008. The DYRK1A gene is on chromosome 21q22.13 and is one of the genes that is missing in the 21q22.13 deletion … Continue reading
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. In the study they were only looking at the DNA of those with Autism. However … Continue reading
Microcephaly Awareness Day September 30th 2015 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. Other Common Features of DYRK1A “Syndrome” Low Birth Weight Feeding Issues at Birth (Frequent Vomiting) … Continue reading
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). They found recurrent disruptive mutations in 6 genes that may contribute to 1% of sporadic cases of ASD; CHD8, DYRK1A, GRIN2B, TBR1, … Continue reading
We are currently using a Facebook Group to connect with other families experiencing the affects of genetic changes that alter the DYRK1A gene. We are a small but growing community that hopes to provide support, information and resources. We hope to spreading awareness of the affects that occur when one of the DYRK1A genes is … Continue reading
DYRK1A disrupted 