Joshua Mirkin
Organizer
Joshua Mirkin
Organizer
SLC1A4 Deficiency is a severe, Ashkenazi Jewish genetic condition caused by a mutation in the SLC1A4 gene. Affected children are profoundly disabled and unable to walk, talk, or meaningfully engage with the world. They require lifelong intensive care and have reduced life expectancy. There are currently no approved treatments, and families face enormous medical, emotional, and financial burdens. Despite its discovery in 2015, it is not yet included on most Ashkenazi Jewish genetic carrier screening panels.
The Jewish community has a long history of responding to Jewish genetic diseases with urgency, compassion, and collective action. SLC1A4 Deficiency needs that same communal commitment.
Donations will help support critical research priorities such as laboratory and animal models, early therapeutic development, and clinical trials. The fund will also support advocacy and education efforts to increase recognition of SLC1A4 Deficiency and add it to all Ashkenazi Jewish genetic carrier screening panels.
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