Association for Creatine Deficiencies Receives $450,000 CZI Rare As One Grant
CARLSBAD, Calif., February 3, 2020 (Newswire.com) - The Association for Creatine Deficiencies (ACD) today announced that the organization has been selected to join the Chan Zuckerberg Initiative (CZI) Rare As One Network and awarded a $450,000 grant.
ACD is one of 30 organizations selected to be a part of the Rare As One Network. CZI is providing these organizations with funding, training, community mentorship, and capacity-building resources. The grant will serve to build capacity for the organization, build upon a research network for Cerebral Creatine Deficiency Syndromes (CCDS) by working with the patient community and researchers and clinicians, and support the organization’s efforts to host an international scientific meeting to convene the research network.
“No one is more committed to finding cures for rare diseases than the patients and families of those affected by these disorders,” said Priscilla Chan, Co-Founder & Co-CEO of CZI. “We are proud to support patient-led organizations as they pursue diagnoses, information, and treatment options in partnership with researchers and clinicians.”
This opportunity is part of the Rare As One Project’s goal to lift up the work that patient communities are doing to accelerate research and drive progress against rare diseases, which affect approximately 400 million people worldwide. The program will provide funding, tools, and support and training to selected organizations.
“As parents, we can’t afford to be bystanders in the research process waiting on developments from the medical field,” said ACD Director of Research Laura Trutoiu. “Our organization is committed to being an active player in research, and being part of the Rare As One Network is a once-in-a-lifetime opportunity for us to speed up the development and implementation of truly collaborative research efforts.”
The ACD’s end goal is to identify effective treatments for all three CCDS, ultimately ensuring that any children with a creatine deficiency are diagnosed at birth and receive prompt treatment. Guanidinoacetate methyltransferase deficiency (GAMT) and L-Arginine:glycine amidinotransferase (AGAT) deficiencies are treatable, but most newborn screening programs still do not screen for them at birth. Creatine Transporter Deficiency (CTD) is currently untreatable.
“Getting clinical trials underway as soon as possible is crucial for our children to have hope for a better future,” added Trutoiu. “A critical step for research growth for the ACD is to centralize patient data, and the Rare As One grant will help make that happen.”
The collaborative research network the ACD is growing is supported by a Scientific Medical Advisory Board consisting of 11 doctors from around the world who contribute to the organization’s mission with their commitment to the community and vast knowledge of molecular and biochemical genetics research translation to clinical application. The ACD is particularly grateful to have the guidance of the Scientific Medical Advisory Board President Dr. Nicola Longo as lead researcher in the Rare As One Network project, along with Dr. Saadet Andrews as lead clinician.
Click here to read the complete news release.
Source: Association for Creatine Deficiencies
