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Talk on haplotype-informed CNV analysis at ProbGen 2022

At the 2022 Probabilistic Modeling in Genomics (ProbGen) conference, Margaux Hujoel will be presenting her work on haplotype-informed CNV detection and subsequent association and fine-mapping analysis in UK Biobank: "Influences of rare copy number variation on human complex traits" (Mon Mar 28).

Five Medical Students Match into Harvard Combined OHNS Residency Program

We are pleased to introduce the five medical students who matched in the Harvard Combined Residency Program in Otolaryngology–Head and Neck Surgery this year. We hope that you will join us in welcoming them to Mass Eye and Ear, Brigham and Women's Hospital and Boston Children's Hospital this June...

2022 Spring Scientific Symposium

HDDC Spring Symposium – Tuesday, June 7, 2022 Enders Building Folkman Auditorium (In person) and Virtually 9am – 5 PM 9-9:15am Welcome and introduction Sensory-motor regulation of gut functions 9:15-9:45AM Irene Miguel Aliaga (MRC – Imperial College London) 9:45-10:15AM Amber Alhadeff 10:15-10:30...

Dr. Gerburg Wulf, a 2022 ASCO WWCC Mentorship Award nominee

Dr Wulf, one of Dr Heng's mentor at BIDMC, has been recognised as a nominee for the 2022 ASCO Women Who Conquer Cancer (WWCC) Mentorship Award. https://www.conquer.org/news/conquer-cancer-announces-2022-wwcc-mentorsh... This is a well-deserved achivement for Dr. Wulf. She is an outstanding female...

eye Insights 14: Genetic Therapies for Inherited Retinal Disorders

While gene therapy is not yet widely available for inherited retinal disorsers (IRDs), researchers are making exciting discoveries, and the future looks more promising than ever before. In this issue of eye Insights, we provide a look into current offerings in gene therapy, and a glimpse into the...

IRDs and Genetic Testing

Inherited retinal disorders are rare, hereditary disorders caused by mutations in genes that encode proteins needed for normal retinal health and function. The first gene associated with retinitis pigmentosa was identified at Mass Eye and Ear in 1990, and since then, over 250 IRD-causing genes have...

Current Gene Therapies for IRDs

The first gene-augmentation therapy for an IRD was approved by the U.S. Food and Drug Administration (FDA) in December 2017 after nearly two decades of development in preclinical models and clinical trials. The drug, known as Luxturna®, is for individuals with autosomal recessive retinal dystrophies...

Deborah VanderVeen, MD, Inducted into the American Ophthalmological Society

Deborah K. VanderVeen, MD, Associate Professor of Ophthalmology at Harvard Medical School and a clinician scientist at Boston Children's Hospital, has been elected to the prestigious American Ophthalmological Society for her distinguished contributions to the field, particularly her work in...

Paulo Bispo, PhD, Awarded ARVO Foundation Fellowship

Paulo Bispo, PhD, Assistant Professor of Ophthalmology at Harvard Medical School and Assistant Scientist at Mass Eye and Ear, received the 2022 Association for Research in Vision and Ophthalmology (ARVO) Mallinckrodt Uveitis Research Fellowship. This $45,000 fellowship award will fund Dr. Bispo's...