Below are some details about the DYRK1A Scientific Conference, for further details visit http://www.dyrk-conference.com/ Abnormalities in DYRK1A dosage are associated with cognitive disorders observed in Down syndrome, Mental Retardation Disease 7 (MRD7) and Alzheimer’s disease. DYRK1A plays key functions in pancreatic cells, cancer, inflammation, megakaryoblastic leukemia. Close orthologs are found Continue reading DYRK1A Scientific Conference
DYRK1A Family MeetUp July 30th 2016 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 during pizza and social time at the hotel. Saturday morning we Continue reading DYRK1A Family MeetUp 2016
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
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 Continue reading Not Horses, Not Zebras, A Unicorn?
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
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 Continue reading 1 of 100 Genes Identified in Autism
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!
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 Continue reading DYRK1A Mentioned in NIH Lecture