Our mission to advance research on ASH1L to help find novel therapeutic interventions in order to ameliorate the lives of those affected by ASH1L mutation. We aim to raise funds to facilitate and leverage research with the purpose of having clinical trials.
OUR AGENDA & GOALS - "CURE ASH1L"
ASH1L is considered an ultra rare genetic disorder. With such small population and the lack of resources online, families diagnosed with ASH1L can get overwhelmed. It is integral for us to provide a safe, secure and convenient platform for families to communicate and bond.
We envision the research to be focused on understanding the gene expression and functionality, how it causes Neurodevelopmental & Neurological Disorders, identify other genes that are influenced by the mutation of ASH1L and identify the histone methylation markers.
The relevance of ASH1L in brain and organ development came into prominence only in 2012. Therefore, ASH1L is commonly unknown to many. Use Scientific posters, representing ASH1L at webinars/conferences and securing memberships at Rare Disease Foundations is critical to raise awareness.
Encourage researchers to create animal models and human models using iPSCs to understand how ASH1L mutation causes neurological issues, developmental disorders, seizures, musculoskeletal abnormalities, Hearing & Ophthalmological impairments, and cardiac problems.
Research is important and needs to be faster. We aim to support a multi-dimensional research paradigm where multiple clinical phenotypes are addressed. Also, understand different potential interventions to target the phenotypes.
ASH1L Community is the primary and sole epicenter for all our visions. It can be daunting for families not only to face the diagnosis but also to understand the research process and scientific terminologies. We hope to provide resources and support using simple videos, documents to educate our ASH1L families.
HAVE PATIENT REGISTRY
Patient Registry is critical for any research progress and clinical trials. It can provide key elements for the genesis of a research and allow the ease of clinical trial participation. We aim to have a Natural History Study which will encapsulate all clinical information of ASH1L patients ethically and also provide data back to our community.
Funding drives the research. We expect to raise funds to leverage research and its pace. We hope to fund research projects targeted to understand ASH1L functions, its influential target genes, molecular mechanism, causes of clinical phenotypes and experiment with novel therapeutic interventions to help our ASH1L warriors.