StemCell Therapy

The National Institute of Health (NIH) has awarded the Willowbrook-based Institute for Basic Research (IBR) a $1.95 million grant over five years to support the study of rare diseases linked to genetic abnormalities.

Although the state-operated facility has expanded its mission in recent years, scientific research into developmental disabilities has been at the core of IBRs work since its founding more than five decades ago.

In that tradition, the NIH award will fund research led by Dr. Gholson Lyon, an IBR psychiatrist and scientist who heads the Genomic Medicine Laboratory in the Department of Human Genetics.

The grantprovides science investigators who have demonstrated ability to make major contributions to medical science the freedom to embark on ambitious, creative, and/or longer-term research projects, the New York State Office for People With Developmental Disabilities (OPWDD) said in a press release.

According to OPWDD, the research will further understanding of the genetic basis for rare diseases that include Ogden syndrome, which was discovered and named by Dr. Lyon.

Occurring in an estimated one of 1,000,000 births, Ogden syndrome is characterized by craniofacial abnormalities, hypotonia, global developmental delays, cryptorchidism, cardiac anomalies, and cardiac arrhythmias, says OPWDD.

The disease is connected to mutation of the NAA10 gene, which affects the bodys proteins and the ability of cells to proliferate. In addition to Ogden Syndrome, Dr. Lyons clinical studies will also focus on other diseases tied to NAA10, and a related gene, NAA15.

These diseases have a profound impact on families, said Dr. Lyon. I am grateful for this support from OPWDD and [the National Institute of Healths National Institute of General Medical Sciences].

Dr. Lyon also works with families at IBRs George A. Jervis Clinic, which offers diagnostic and consultative services for children and adults with intellectual and developmental disabilities.

In addition to Ogden syndrome and related diseases, Dr. Lyon also researches Fragile X syndrome, autism syndromes, and investigates the physiological basis of neuropsychiatric conditions, with the goal of expanding access to preventive services and treatment for those disorders, according to his online bio.

IBR Acting Director Joseph J. Maturi said, Dr. Lyons extensive medical and scientific training and experience will help him successfully undertake these ambitious and important studies."

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Willowbrook-based research facility receives $1.95 million grant to study rare diseases - SILive.com

This entry was posted on November 3, 2019 at 12:48 am and is filed under Genetic medicine. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |