Research Initiatives

ARA is working on several research initiatives for ATR-X syndrome.


ARA has partnered with Coriell Institute to create a biorepository for ATR-X syndrome. Biosamples are a research resource that can be used by researchers to study ATR-X syndrome. This consists of banking biosamples from affected patients, and making these samples available to interested researchers. This is a HUGE step forward by helping our community to participate in scientific research opportunities.

Families can participate at no cost, and help researchers learn more about our gene and its effects on patients. Learn More about Coriell.

Drug Repurposing

Drug Repurposing (DR) is a process of identifying new therapeutic use(s) for old/existing/available drugs. ARA is committed to driving drug repurposing initiatives that will benefit the ATR-X patient community. To support these initiatives, we are currently growing our  bank of patient derived induced pluripotent stem cell lines (iPSC) lines, to include multiple lines of iPSCs consisting of the most commonly occurring alterations found in our patient cohort. This will enable research teams to study the effects of potential therapeutics against a range of alteration types, thus helping identify solutions that will have the most benefit for our patient community as a whole. 

ARA has already funded the creation of 1 patient iPSC line (affected, male) and one control iPSC line (unaffected, female). We also have lymphoblastoid and fibroblast cell lines that are banked and readily available for interested researchers.

We invite researchers to contact us at to further discuss how we can support ongoing projects.

To complete the multi iPSC creation initiative, we must raise$150K USD additional to the funding we have already secured.

Gene Therapy Discovery

Gene Therapy Involves Inoculating A Virus (devoid of its harmful components) that travels to neurons, and carries with it a “normal” version of the ATRX gene, reproducing it in such a way that it eventually replaces the mutated gene. We are working with top researchers Dr. David Picketts and Dr. Allison Bradbury to determine if ATR-X syndrome would benefit from a gene therapy treatment. Learn More about Gene Therapy.

Patient Registry

A patient registry captures de-identified data on a specific patient community.  By gathering information about patients and their medical history, it can be used to help researchers and medical professionals provide quality healthcare, identify new symptoms, learn more about the patient population, and provide data to help in the development of therapeutics.

ATRX Research Alliance has recently partnered with Simons Searchlight with the goal of accelerating science and improving the lives of people living with ATR-X Syndrome and their families.

Go to to sign up for FREE!


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