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Pediatric Ocular Genetics

gloves holding a pipet in a petrie dish

At the Balkan Center's Pediatric Ocular Genetics Clinic, patients with enigmatic conditions will be seen by specialists and genetic experts. Patients will receive comprehensive clinical evaluations and advanced genomics investigation, including whole genome sequencing.

According to the Undiagnosed Diseases Network (UDN), rare diseases are those affecting fewer than 200,000 people in the US. The UDN aims to close the gap between research and clinical care by working together to learn how these rare diseases affect the body and by using genetic information to diagnose the mystery illnesses, hopefully leading to treatments.

The University of Miami Miller School of Medicine is among five new academic medical sites across the nation that have joined the National Institutes of Health’s Undiagnosed Diseases Network and been awarded a grant by the agency to improve and accelerate the diagnosis of rare and undiagnosed conditions. The lead researcher and physician is Mustafa Tekin, MD, professor at the Dr. John T. MacDonald Foundation Department of Human Genetics. He sees pediatric ocular genetics patients at The Balkan Center. The site is co-led by Stephan Züchner, MD, PhD, a genetics specialist, chair of the Dr. John T. Macdonald Foundation Department of Human Genetics, and co-director of the John P. Hussman Institute for Human Genomics.

Currently, the NIH's total planned investment in the study will be $100 million.

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