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Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

Publication: Journal Article
Sangermano, Riccardo, Pooja Biswas, Lori Sullivan, Emily Place, Shyamanga Borooah, Juerg Straubhaar, Eric Pierce, Stephen Daiger, Kinga Bujakowska, and Radha Ayaggari. 2022. “Identification of a Novel Large Multigene Deletion and a Frameshift Indel in PDE6B As the Underlying Cause of Early-Onset Recessive Rod-Cone Degeneration”. Cold Spring Harb Mol Case Stud 8 (7).

MD-PhD: What, Why, and How

Presentation: January 12, 2022
In addition to serving patients, physican-scientitis are engaged with advancing the medical field and applying science to better inform public and private policy decisions. Check out this presentation to learn more about what an MD-PhD degree is and what it takes to apply.

HMS PRIDE 2022

Events: Tuesday, Jun 21, 2022, 12:00pm -Tuesday, Jun 21, 2022, 01:30pm
Please join LAHMS for a celebration of Pride! HMS Pride 2022 will be a time for us to be in community and hear from some amazing speakers about advocacy and justice for LGBTQIA+ patients, the legacy of LGBTQIA+ student activism at HMS, and more! Dinner will be provided. All are welcome at this event...

Ask Us Anything - June 2022

Events: Wednesday, Jun 22, 2022, 09:00am -Wednesday, Jun 22, 2022, 11:00am
Join us for our first Ask Us Anything session, June 22nd at 1PM EST! Ask Us Anything is a dedicated time when scientists from the NCFG will be available via Zoom to discuss your research questions related to Glycoscience. Do you want to know more about what we do in the NCFG? Do you have a glyco...

Lillian Dattilo, MD

Person: PGY-1 Resident, Otolaryngology–Head and Neck Surgery
Dr. Lillian Dattilo grew up in Pittsburgh, Pennsylvania, and studied molecular biology and health policy at Princeton University. There, she completed a thesis on bacterial genetics and was inducted into the Phi Beta Kappa Honor Society, graduating magna cum laude. Prior to medical school, she...