netbook
desktop
mobile
tablet-landscape
tablet
phone-landscape
phone
Research to Prevent Blindness

Understanding Usher Syndrome: New Findings

Most vision researchers will tell you that they derive deep satisfaction from their work not only because of the intellectual challenges, but also because of their work’s potential to help people—whether that’s through learning more about a disease, pioneering a treatment, or helping to refine a surgical technique.

Researcher Jesse Sengillo and his mother, who has Usher syndrome.

But sometimes, the rewards are even more personal. Such is the case for Jesse D. Sengillo, an RPB Medical Student Fellowship Award recipient based at Columbia University Medical Center (CUMC). He, his mentor at CUMC, Stephen H. Tsang, MD, PhD (an RPB Physician-Scientist Award recipient), and colleagues from around the world recently collaborated on a study to better characterize the genetic and physiologic characteristics of Usher syndrome—the most common cause of deaf-blindness—and a disease that affects Sengillo’s mother.

People with Usher syndrome have both retinitis pigmentosa (RP)—an inherited, irreversible, and progressive form of blindness—as well as hearing loss.

“I really admire what my mom has endured - Usher syndrome and other forms of RP have an immense impact on the person who is affected,” said Sengillo. “It’s a special feeling to know that our work may someday benefit her and many others.”

One cause of Usher syndrome is mutations in the Usherin 2A (USH2A) gene, which can affect the function of specialized photoreceptor cells in the retina that are necessary for vision. But it is still unclear why this disease presents variably amongst patients.

Sengillo, Tsang, and their research colleagues recently published an article on the findings of their retrospective analysis in Nature’s Scientific Reports. They identified a pattern between certain types of genetic mutations and the amount of residual cone photoreceptor function. They also reported that there may be a threshold of sorts for the severity of genetic mutations that, if exceeded, explains the presence of hearing loss.

By collecting this data, the researchers were better able to outline the genetic factors of varying presentations amongst Usher syndrome patients, which can be used as a jumping-off point for further study and to help target enrollment for future clinical trials. This work is also critical in helping physicians to counsel their patients about expected clinical outcomes and disease management.

“It’s exciting to be a part of the movement that is bringing this disease closer to treatment. There is a great unmet need for these patients, but research is closing the gap and we are all very optimistic for what is coming,” said Sengillo.

 

(Photo caption for cover image: Retina of a person with retinitis pigmentosa due to mutations in USH2A.)

Related News: Feature Story, Retina Disorders , Retinitis Pigmentosa, Top Story

Dr. Palczewski and lab members

An RPB Awardee Tackles Inherited Retinal Diseases

Dr. Krzysztof Palczewski develops and applies cutting-edge gene editing techniques to challenging genetic conditions.

Read More

 
Dr. David Calkins

RPB and Association of University Professors of Ophthalmology Announce 2023 Recipient of RPB David F. Weeks Award for Outstanding Vision Research

David J. Calkins, PhD, is recognized for ground-breaking contributions to the field of vision research.

Read More

 
RPB logo

Research to Prevent Blindness and the American Academy of Ophthalmology Award New Research Grants to Improve Eye Care

Award recipients to use the American Academy of Ophthalmology IRIS® Registry (Intelligent Research in Sight) clinical database to improve care for all patients.

Read More

 
RPB logo

Grant from Research to Prevent Blindness and Castle Biosciences Supports Medical Student Research in Ocular Cancer

Research to Prevent Blindness and Castle Biosciences are partnering to provide new opportunities for medical students to pursue ocular cancer research.

Read More

 
RPB logo

New Glaucoma Research Grant Available

Research to Prevent Blindness and Aerie Pharmaceuticals are partnering to provide grant opportunities to support novel research in glaucoma.

Read More

 
RPB logo

New Vision Science Research Grant for Students of Osteopathic Medicine

RPB and the AOCOO-HNS Foundation are launching a multi-year partnership to provide funding to increase research opportunities in vision science for students of osteopathic medicine.

Read More

 

Subscribe

Get our email updates filled with the latest news from our researchers about preventing vision loss, treating eye disease and even restoring sight. Unsubscribe at any time. Under our privacy policy, we'll never share your contact information with a third party.