BUSNA Supports BS-related Genetic Sequencing and Imaging Research

Birdshot Uveitis Society of North America announces its support of the innovative Birdshot Uveitis research of Dr. Lucia Sobrin. MD, MPH. This decision follows several months of communication between Dr. Sobrin and BUSNA Board Members Christine Griffith and Mari Schlorff.

Dr. Sobrin is a uveitis and retinal clinician and a genetics specialist. She serves as the Director of the Morse Laser Center and Co-Director of Ocular Immunology and Uveitis Fellowship, both at Massachusetts Eye and Ear in Boston. She is also the Charles Edward Whitten Professor of Ophthalmology at Harvard Medical School.

Dr. Sobrin and her colleagues study the genetics of uveitis. They are investigating the entire genomes of people with birdshot and are comparing their findings with those of non-birdshot HLA-A29 positive individuals. HLA-A29 is the gene that has been associated with Birdshot Uveitis. They hope to consider every genetic factor while assuming nothing; a blank slate, so to speak.

The biobank at MEE currently has bloodwork of approximately 4,000 HLA-A29+ people, few of whom have birdshot. It includes around fifty birdshot patients with both blood work and imaging. The cost to obtain each sample is $300 USD.

Beyond genetic markers, Dr Sobrin has an interest in epigenetics and in the environmental factors that may promote the disease. Why does one HLA-A29+ twin get birdshot while the other HLA-A29+ twin does not? What makes a 29-year-old develop birdshot?

Dr. Sobrin's birdshot-related projects fall into two categories:


  • Sequencing Research Dr. Sobrin is conducting sequencing research and is sharing blood samples with Regeneron, an American biotechnology company with a large genetics institute. Regeneron is heavily involved in research and has an interest in Birdshot Uveitis. It has already collaborated with French researchers with regards to ERAP1 and ERAP2 research. Together, Regeneron and Dr. Sobrin hope to compare data from up to 75 BS patients with that of a large control group.

  • Imaging Investigations Dr. Sobrin and her colleagues at MEE have been conducting a retrospective study into the predictive value of severe Birdshot in Fluorescein and Indocyanine Green (ICG) Angiography. They've been searching for specific patterns in BS patients. In 2021 Dr. Sobrin presented a paper on this subject to the Association for Research in Vision and Ophthalmology.

Dr. Sobrin's interest in birdshot has grown out of her suspicion that this disease is far more widespread than current numbers show.

BUSNA is happy to support these studies. As a volunteer organization, we will continue to work toward obtaining a deeper understanding of and facilitating better treatment protocols for this potentially blinding disease.

Join us as we aim for clearer vision!

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