OUR KIDS NEED YOU
Care4ASH1L is raising funds to setup a charity to help facilitate research and to expedite the research realm to find a cure for our kids. A mutation in ASH1L is known to cause several neurodevelopmental disorders including Autism, Intellectual Disability, Tourette Syndrome and other abnormalities. Please donate and support our cause!
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 and human models using iPSCs to understand how truncation and/or missense of ASH1L gene affects:
Brain Development and Structure
DNA damage repair, DNA replication, and mRNA splicing
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.
WHO ARE WE?
WHAT WE DO?
HOW CAN YOU HELP?
ASH1L & its research is rare but our hopes must be limitless!!! Let's come together, raise our voices and change this.
Contribute to our purpose by helping us reach out to potential researchers or scientists.
Volunteer to help us raise funds to facilitate further research on ASH1L.
Please be generous and donate to our cause.
Our aims and objectives are very simple :
Increase awareness about ASH1L.
Contact researchers and scientists to study ASH1L deeper. Encourage the scientific strata to expand ASH1L specific study.
Identify therapeutic interventions for ASH1L.
Display all the ongoing ASH1L studies, researches, findings to enable ease of participation and create more visibility on opportunities.
Care4ASH1L is a parent-led group which was formed in 2020 with an aim to provide families and/or patient advocates affected by ASH1L with a supportive and safe environment to ask questions, share experience, and interact with other in a similar condition.
We aim to bring families and patient advocates of ASH1L together not only to bond but also to work together to bring more awareness on ASH1L gene mutation prone conditions .