LOS ANGELES, CA, October 23, 2019 - Parents of children affected by Phelan-McDermid syndrome (PMS) announce the formation of CureSHANK, a nonprofit organization to accelerate drug development in PMS and other diseases related to the SHANK genes. As one of a handful of known monogenic causes of autism, PMS provides insights into the underlying biology of autism and approaches to treatment.
PMS is a rare genetic condition - estimated to occur in 1 in 15,000 children - caused by deletions or mutations of the SHANK3 gene. The condition causes intellectual disability and autism. Deletions and mutation of SHANK3 are among the most common causes of autism, occurring in approximately 1% of individuals with autism. SHANK3 is also implicated in schizophrenia and Alzheimer's disease. The proteins encoded by SHANK3 and related genes, SHANK1 and SHANK2, are found in synapses, the junctions that allow brain cells to communicate with each other. Disorders of the SHANK genes, referred to as Shankopathies, represent an opportunity for developing targeted treatments and gene therapy.
To stimulate development of therapies for Shankopathies, CureSHANK has filed a 1023 application with the IRS for 501(c)(3) tax-exempt status. Geraldine Bliss, a parent of a child affected by PMS and former research chair and board member of the Phelan-McDermid Syndrome Foundation (PMSF) will lead CureSHANK on a volunteer basis. "We want to move promising ideas from academia into industry, to speed the delivery of effective therapeutics to our children," Bliss said. "The development of research tools such as brain organoids from patients' cells, as well as multiple rodent and primate models of PMS, has enabled us to earnestly set our sights on disease-modifying treatments."
Bliss and her co-founders, Abby Lievense and Paulina Rychenkova, expect to raise several million dollars over the next three years. "We are enhancing the traditional philanthropic model of funding research through donations by forming innovative partnerships with diverse stakeholders, essential to developing breakthrough treatments," Rychenkova said. "Our objective is to greatly expand the resources available for research on our children's debilitating genetic condition."
There are currently no FDA approved treatments for any Shankopathies. Patients are monitored for management of multiple developmental and medical conditions, which can include epilepsy, mood disorders, and developmental regression. Lievense, a former board member of PMSF added: "It's a heartbreaking journey for families. My son, Darus, has suffered from regression in all areas of development. I would do anything to help him recover those skills, and I believe that a better life is within reach for him through the work we are undertaking at CureSHANK."
CureSHANK is a nonprofit organization accelerating drug development for Phelan-McDermid syndrome and related Shankopathies. CureSHANK identifies and funds projects that overcome critical barriers to successful drug development and coordinates scientific efforts to improve efficiency and speed in the field. Contributions to CureSHANK will be tax deductible upon receipt of a tax-exempt determination from the IRS.