You can make a difference by donating today to Care4ASH1L
Care4ASH1L is a CRA approved registered charitable foundation in Canada fedrally (BN: 77069 0261 RR0001). Care4ASH1L is the first patient advocacy group for ASH1L community. Research is at the core of our vision. Our mission is to raise awareness, empower ASH1L community, advance research on ASH1L to help find novel therapeutic interventions in order to ameliorate lives of ASH1L affected patients. We aim to raise funds to facilitate and leverage research with the purpose of having clinical trials.
Read about some of our ASH1L Warriors - Kautik , Westli , Jack and Cadan
Watch Videos of some of our ASH1L Warriors and know about their struggles: Asaf , Heitor , Brynja
Our Social Media links:
Facebook Page: https://www.facebook.com/Care4ASH1L
How are patients affected by ASH1L Mutation?
Mutations in ASH1L gene are considered ultra rare as there are just over 50 families diagnosed. ASH1L can only be diagnosed currently via Whole Genome or Exome Sequencing. The mutation has phenotypical diversity and some of the disease manifestations include, but not limited to:
1. Autism Spectrum Disorder
3. Intellectual Disability
6. Dravet Syndrome
7. Tourette's Syndrome
8. Developmental Delays
9. Behavioural Issues
10. Speech Disorders
12. Feeding Issues
13. Sleep Disorders
14. Hormonal Imbalances
15. Hearing and Vision Impairments
16. Musculoskeletal Deformities
17. Hypotonia, Hypertonia, Dystonia
18. Heart abnormalities
19. GI Disturbances
20. Genital Abnormalities
Watch this video on our ASH1L Warriors and their struggles.
What is the research on ASH1L?
ASH1L has gained prominence since 2012 and hence the knowledge on the gene is relatively limited. However with the recent developments in genetic testing, ASH1L mutations are being diagnosed and researchers are since taking notice of the importance of the gene in human brain development. There are 4 researchers working on understanding this gene and its association in causing the various diseases.
1. Dr. Judy Liu from Brown University
2. Dr. Sofia Lizarraga from South Carolina University
3. Dr. Jin He from Michigan State University
4. Dr. Greg Wang from North Carolina University
Each of these researchers are working on animal models and/or iPSCs (Induced Pluripotent Stem Cells) to understand the molecular mechanism of ASH1L gene in human brain development at different stages and develop therapeutic interventions in order to ameliorate the lives of those affected.
HOW MUCH MONEY DOES THE RESEARCH REQUIRE?
The research at Brown University and University of South Carolina requires $100,000 (USD)
WHERE WILL THE DONATED MONEY BE SPENT? IS THERE A BREAKDOWN OF THE COSTS?
Please find below the breakdown of the costs:
Table 1: The breakdown of the costs associated with Clinical Studies
neurobehavioral and cognitive assessment kits = $ 2,000.00
costs for shipping blood or kits = $ 2,000.00
costs for in person visit for neurobehavioral assessment = $ 750.00
Patient travel for a family of 3 = $ 20,000.00
Use of EEG instrument in hospital = $ 1,868.00
Cost is for 1.2 Calendar months of salary + fringe benefits = $ 26,148.00
Cost is for 0.6 calendar months of salary + fringe benefits = $ 7,063.00
Cost is for 1.2 Calendar months of salary + fringe benefits = $ 10,417.00
Table 2: The breakdown of the costs associated with iPSCs Studies
Design of sgRNAs for genome editing = $7500.00
Gene editing, single gene sorting & screening = $22,254.00
TOTAL = USD 100,000