About Amy Clugston

President of SWAN USA www.swanusa.org and mother of Lorna who remained undiagnosed for 18 years before finding her mutation in the DYRK1A. Her mutation is an insertion of a letter G that causes a frameshift that then causes a premature stop codon.

100 Families

Last week we reached a milestone, 100 families in our community. Then this week there was a surge of families joining us, increasing our family connections to 105 across the world. We have increase our family reach by 153% in one year, we look forward to reaching our next milestone.

DYRK1A Scientific Conference

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

Not Horses, Not Zebras, A Unicorn?

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?

Seizures in DYRK1A

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

Unique Published Information Leaflet

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

1 of 100 Genes Identified in Autism

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, A Main Feature!

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!