Care4ASH1L is (formed in the year 2020) dedicated to advancing research into understanding and development of therapeutics for ASH1L gene disorder. We intend to raise funds for important research projects at leading universities in North America and Europe to enable focused research for ASH1L.
ASH1 like histone lysine methyltransferase (ASH1L) was identified as a major risk factor for autism. In particular, de novo truncating and missense mutations in ASH1L have been identified in large autism cohorts. Furthermore, recent evidence suggests that ASH1L is associated with intellectual disabilities, speech difficulties, seizures, postnatal microcephaly, many types of cancers & muscular dystrophy. It is, therefore, pivotal to research this gene meticulously. Henceforth, we encourage researchers and scientists to study ASH1L.
WE EXPECT SCIENTISTS TO
Create animal models (for example: mice) and human models (for example : iPC) to understand how truncation and/or missense of ASH1L gene affects:
Brain Development and Structure
DNA damage repair, DNA replication, and mRNA splicing