Mount Sinai to Accelerate Rare Disease Research Through a Grant from the Chan Zuckerberg Initiative
Grant supports patient-led organization that has chosen researchers at the Icahn School of Medicine at Mount Sinai as research and clinical partners
Last week, the Chan Zuckerberg Initiative (CZI) announced $450,000 in funding to the DDX3X Foundation, a parent-led organization working to find treatments and a cure for DDX3X syndrome. A rare disease caused by an alteration of the DDX3X gene, the syndrome is linked to intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical development.
The grant is part of CZI’s Rare As One Project, an initiative aimed at supporting and lifting up the work that patient communities are doing to accelerate research and drive progress in the fight against rare diseases. The funding will be used to develop and launch collaborative research networks in partnership with the DDX3X Foundation’s chosen research and clinical partners—the Icahn School of Medicine at Mount Sinai and the University of California, San Francisco. CZI will also be providing the DDX3X Foundation with training and capacity-building support.
Rare disease is anything but rare: as many as 7,000 rare diseases affect 400 million people worldwide. The vast majority of these diseases are not well known or understood, and fewer than five percent have any therapy approved by the U.S. Food and Drug Administration. The knowledge gained from patients and families who have been affected by these diseases is key to driving breakthroughs in research and treatment, but a lack of funding and infrastructure to support such patient-led research often holds progress back.
Dorothy Grice, MD, Professor of Psychiatry at the Icahn School of Medicine at Mount Sinai, and a child and adolescent psychiatrist who works on child-onset disorders, will serve as primary clinician for this grant. Dr. Grice works with a team of psychiatrists, psychologists, neurologists, and geneticists at the Seaver Autism Center for Research and Treatment at Mount Sinai on preclinical and clinical studies of DDX3X syndrome.
“The Seaver team identified the DDX3X gene as a priority in 2016, as mutations in DDX3X are one of the most common genetic causes of autism and developmental delays in females. We have worked closely with the DDX3X Foundation to help identify families affected by this syndrome who would like to participate in our research program. We are scheduling two to three DDX3X families each month for our ongoing clinical research program,” says Dr. Grice. “Together with the DDX3X Foundation, we are honored to have been chosen by CZI. The additional support they’re providing will help us all move more rapidly to the translational stage of research so that we can find new therapeutics to improve the lives of those affected by this syndrome.”
Through the grant, Dr. Grice will work closely with the DDX3X Foundation and Elliot Sherr, MD, PhD, Professor of Neurology and Pediatrics at the University of California, San Francisco, the primary researcher on the grant. Together, they will work to create an international research network on DDX3X syndrome, host international meetings to promote awareness, identify strategic priorities, and advance preclinical and clinical research studies.
The DDX3X Foundation is a nonprofit organization founded in 2015 by Liz Berger, a film publicist in Los Angeles, and Beth Buccini, a high-end fashion designer from the Philadelphia area, who both have daughters afflicted with the disorder. Ms. Buccini’s daughter, Virginia, 14, was the first child in the United States diagnosed with DDX3X syndrome in 2014. Ms. Berger’s daughter, Lily, 6, was diagnosed with the disorder in 2015. The two moms were connected by the medical teams who identified their daughters’ rare disorders. After a brief initial conversation, both moms quickly realized that they shared the desire and dedication to start a foundation for their daughter’s rare disorder.
“We are so honored to be part of CZI’s Rare as One Network and thrilled that we have two highly regarded institutions, Mount Sinai and UCSF, as our partners. We are thankful that the Seaver Autism Center made the DDX3X gene a strategic priority in its mission to find a cure and treatment for the disorder. Each and every clinician and researcher has shown incredible compassion and commitment to our children and our cause. We look forward to continuing our partnership with Dr. Grice, Dr. Buxbaum, and their teams,” said Ms. Berger and Ms. Buccini in a statement.
About the Seaver Autism Center for Research and Treatment
The Seaver Autism Center is one of the most recognized institutions of its kind in the world because of its ability to translate breakthroughs in the lab to clinical trials that bring cutting-edge treatment to individuals affected by autism spectrum disorder (ASD) and associated neurodevelopmental disorders. We offer compassionate care, including assessment and behavioral health services, to children and families, as well as educational and community outreach programs. Founded in 1993 and located at the Icahn School of Medicine at Mount Sinai, families come from around the world to seek our services and the expert counsel of our team of scientists, researchers and clinicians. For more information, visit: www.seaverautismcenter.org, or find the Seaver Autism Center on Facebook, Twitter and Instagram.
About the Mount Sinai Health System
Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with more than 43,000 employees working across eight hospitals, over 400 outpatient practices, nearly 300 labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time — discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.
Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 7,300 primary and specialty care physicians; 13 joint-venture outpatient surgery centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and more than 30 affiliated community health centers. We are consistently ranked by U.S. News & World Report's Best Hospitals, receiving high "Honor Roll" status, and are highly ranked: No. 1 in Geriatrics and top 20 in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Neurology/Neurosurgery, Orthopedics, Pulmonology/Lung Surgery, Rehabilitation, and Urology. New York Eye and Ear Infirmary of Mount Sinai is ranked No. 12 in Ophthalmology. U.S. News & World Report’s “Best Children’s Hospitals” ranks Mount Sinai Kravis Children's Hospital among the country’s best in several pediatric specialties.