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. Today we know about the rare condition Continue reading Rare / Common
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 Continue reading Seizures in DYRK1A
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 Continue reading Unique Published Information Leaflet
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 Continue reading Microcephaly, A Main Feature!