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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Kozycki, Christina Torres, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake Warner, Priyam Jani, Dima Hammoud, et al. 2022. “Gain-of-Function Mutations in ALPK1 Cause an NF-κB-Mediated Autoinflammatory Disease: Functional Assessment, Clinical Phenotyping and Disease Course of Patients With ROSAH Syndrome”. Ann Rheum Dis 81 (10): 1453-64.

Beetham Eye Institute Fellows Recognized with Awards and Fellowships

Cris Jacoba, MD, and Konstantina Sampani, MD, both fellows at the Beetham Eye Institute at Joslin Diabetes Center, placed first and second, respectively, in the New England Ophthalmological Society annual Hecht poster contest for residents and fellows.Dr. Jacoba was awarded first prize for his...

2021 Mass Eye and Ear Retina Awards and Fellowships

Three talented vitreoretinal surgery fellows at Mass Eye and Ear were recognized with the following awards and fellowships. The 2022 retina awards and fellowships will be announced in October. Madden Fellowship in RetinaCassie Ludwig, MD, is the recipient of the 2021 Thomas J. Madden Fellowship in...

Yanna Bian, MD, Receives Cornea and Refractive Surgery Research Award

Yanna Bian, MD, a rising PGY-4 ophthalmology resident, is the 2021-22 recipient of the Best Clinical Trainee Research Award in Cornea and Refractive Surgery. Presented by the Harvard Ophthalmology Cornea Center of Excellence, this award honors the resident or clinical fellow who has conducted the...