05/15/2024 | Press release | Distributed by Public on 05/15/2024 09:18
IBR's report was published by the National Organization for Rare Disorders, a leading patient advocacy organization
The New York State Office for People With Developmental Disabilities (OPWDD) has announced the publication of a report about the rare disorder Ogden syndrome by clinicians at the George A. Jervis Clinic of the Institute for Basic Research in Developmental Disabilities (IBR).
Ogden syndrome is a rare genetic syndrome with a wide and variable spectrum of characteristics, including the presence of conditions such as uncommon facial structure, congenital heart defects, seizures, cardiac arrhythmias, intellectual disability, delayed speech and motor milestones and autism spectrum disorder. The syndrome is an X-linked genetic condition caused by variants in the NAA10 gene.
The report on Ogden syndrome was published in the Rare Disease Database of the National Organization for Rare Disorders (NORD). NORD advocates for the 30 million Americans living with a rare disease, defined as diseases affecting 200,000 or fewer people in the United States and is a highly regarded resource for families, caregivers, researchers, medical professionals, public policy officials and members of the media.
The report provides a comprehensive introduction to Ogden syndrome, including its signs and symptoms, causes, affected populations, disorders with similar symptoms, diagnosis, standard therapies, clinical trials and studies, references and programs and resources.
Authors of the report are geneticist and psychiatrist Gholson Lyon, MD, PhD, who first identified the syndrome, and genetic counselor Ruhi Shah, MS, CGC.
"We are hopeful that publication of this report on NORD's highly regarded website for rare diseases will help increase understanding of Ogden syndrome," said Kerri E. Neifeld, Commissioner of OPWDD. "The information in the report will be a valuable resource for families and health care personnel in supporting people with Ogden syndrome."
Dr. Lyon's studies on Ogden syndrome, some of the findings of which are described in the NORD report, were funded in part by OPWDD and the National Institutes of Health.
About OPWDD and IBR:
The Institute for Basic Research in Developmental Disabilities (IBR) is the research arm of the New York State Office for People With Developmental Disabilities (OPWDD). IBR also provides clinical services and conducts educational programs. OPWDD is responsible for coordinating services for New Yorkers with developmental disabilities, including intellectual disabilities, cerebral palsy, Down syndrome, autism spectrum disorders, Prader-Willi syndrome, and other neurological impairments.