Drs. Debarshi Mustafi and Andrew Stacey, saw an opportunity to merge their research and clinical interests after a discussion in the operating room examining retinoblastoma patients at Seattle Children’s Hospital.
Retinoblastoma is a devastating eye cancer that affects about one in 100,000 children. In past times, the mortality rate for this cancer was high, and survivors often lost their eyes to the disease. Retinoblastoma comes in two varieties – inherited and sporadic. While in some cases, a family history will suggest genetic disease, in cases where there is no family history, it is important to determine if the child carries the genetic risk factor in their whole body or just in the affected eye. In the former case, the other eye must be examined under anesthesia frequently, while in sporadic cases, the fellow eye is very unlikely to be affected. The current timeline to obtain genetic testing to confirm a diagnosis of genetic retinoblastoma took weeks to months and necessitated repeated exams under anesthesia for these neonatal patients while the results were pending. A more rapid genetic test result would not only alleviate this but would alter treatment decisions, such as initiating chemotherapy treatments carrying some risk and sometimes deciding whether a cancerous eye needs to be removed.
Drs. Mustafi and Stacey set out to find a solution to this pressing problem. They utilized an emerging technology being developed in the Mustafi and Van Gelder laboratories, termed adaptive sequencing, which allows one to selectively sequence specific segments of the genome to target the retinoblastoma gene. They demonstrated that after the isolation of DNA from the blood from a patient, they could deliver a definitive diagnosis of genetic retinoblastoma in a matter of days. Drs. Mustafi and Stacey recently published their work in Ophthalmic Genetics and were awarded a three-year grant from the Gerber Foundation to implement this technology in clinical practice.
Dr. Andrew Stacey
Dr. Debarshi Mustafi
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