ASH1L

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About CARE4ASH1L?

Our Agenda

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

  • Organ Development

  • Neurological Behaviours

  • Developmental Disorders

  • DNA damage repair, DNA replication, and mRNA splicing

This video summarizes the literature of ASH1L
All about ASH1L

This video describes the following:

  • In which chromosome is ASH1L located?

  • What are the protein domains in ASH1L?

  • What is the structure of ASH1L?

  • What is the function of ASH1L?

  • How does a mutation in ASH1L disrupt its function?

 

SPECIAL CREDIT NOTE: This video has been designed and compiled by Dr. Sofia Lizarraga and members of her laboratory at University of South Carolina. Care4ASH1L is very grateful to their contribution & would like to thank Dr. Sofia Lizarraga, Janay Vacharasin and Anna Bagnell for contributing to this video

Copyright © 2020 by Dr. Sofia Lizarraga & Care4ASH1L. All rights reserved.

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