Dr. Ayellet V. Segrè received her Ph.D. in Genetics and Genomics from Harvard University and did her postdoctoral training at Massachusetts General Hospital and the Broad Institute of Harvard and MIT on genetic and pathway analysis of complex diseases. In 2013, she joined the core team of the Genotype Tissue Expression (GTEx) Project at the Broad Institute, whose goal was to identify genetic variants that regulate gene expression (eQTLs) in a range of human tissues. As part of GTEx, Dr. Segrè led the computational production of the genotype data and the consortium’s efforts in integrating eQTL with GWAS data to gain biological insights on the causal regulatory mechanisms of complex diseases and traits. Since the Fall of 2017, Dr. Segrè is a member of the Faculty of Ophthalmology at Harvard Medical School, and an Assistant Scientist at the Department of Ophthalmology at Mass Eye and Ear, where she leads the genetic biostatistics and -omics efforts within the Ocular Genomics Institute.
Dr. Segrè is interested in using human genetics, functional genomics, and systems biology approaches to uncover the genetic risk factors and biological processes that lead to common eye diseases and patient-specific drug response. The goal of this is work is to identify new testable drug targets and help design personalized eye treatments. To address these problems, Dr. Segrè’s lab is focused on developing and applying computational methods that integrate whole genome association studies of complex eye diseases, such as age-related macular degeneration, glaucoma, and diabetic retinopathy, with epigenetic and RNA-sequencing data from human eye tissues.
Dr. Elizabeth Engle is a Senior Associate of Neurology and Professor of Neurology and Ophthalmology in the department of Genetics at Boston Children’s Hospital.
Dr. Elizabeth Engle is one of the world’s leading authorities on the genetics of eye movement disorders. Her ground-breaking research has uncovered the clinical features and genetic causes of rare forms of congenital strabismus (misaligned eyes) and ptosis (drooping eyelids), and led to the definition of a new category of human malformation syndromes, the “Congenital Cranial Dysinnervation Disorders.” Dr. Engle has identified the genes mutated in multiple complex strabismus syndromes and demonstrated that these disorders can result from errors in the growth and development of motor neurons (brain cells that guide movement) and their cranial nerves as they extend from the brainstem to the eye muscles. Her studies of these orphan disorders have dramatically advanced our knowledge not only of these specific disorders, but also of steps critical to human motor neuron and brainstem development. Most recently Dr. Engle has also begun a large-scale clinical and genetic study of more common forms of strabismus, a problem that affects up to 5 percent of the general population.
Dr. Engle is Professor of Neurology and Ophthalmology at Harvard Medical School, Investigator of the Howard Hughes Medical Institute, and an Associate Member of the Broad Institute. At Boston Children’s Hospital, she is a member of the Departments of Neurology, Ophthalmology, and Medicine (Genetics), a member of the FM Kirby Neurobiology Center and the Program in Genomics, and a senior investigator for The Manton Center for Orphan Disease Research.
Dr. Eric Pierce received his Ph.D. in Biochemistry from the University of Wisconsin-Madison and his M.D. from Harvard Medical School. He did his residency in Ophthalmology at Harvard and fellowship in Pediatric Ophthalmology at Children’s Hospital, Boston where he also took his first faculty position. He was then recruited to the department of Ophthalmology at the University of Pennsylvania School of Medicine, where he was promoted to Associate Professor with tenure. He returned to Harvard in 2011 to establish the Ocular Genomics Institute.
Dr. Pierce is an ophthalmologist and molecular geneticist whose research program is dedicated to understanding the molecular mechanisms of inherited retinal degenerations (IRDs), and improving therapeutic interventions for these conditions. IRDs are a leading cause of blindness worldwide, and are characterized by progressive dysfunction and death of retinal photoreceptor cells.
Dr. Pierce’s research program is focused on identifying new IRD disease genes, investigating the mechanism by which mutations in the identified genes lead to blindness, and using this information about disease pathogenesis to develop rational therapies to prevent vision loss.
Dr. Wiggs received her Ph.D. in Biochemistry from the University of California, Berkeley and her M.D. from Harvard Medical School. She did her residency in Ophthalmology at Harvard and fellowships in Glaucoma (Mass Eye and Ear) and Medical Genetics (Tufts). Dr. Wiggs is clinically board certified in both Ophthalmology and Medical Genetics.
Dr. Wiggs is a physician scientist whose research program is dedicated to understanding the molecular mechanisms of glaucoma, including both early-onset glaucoma caused by highly penetrant alleles and common age-related glaucoma with complex inheritance. Dr. Wiggs is the PI of the NEIGHBORHOOD consortium contributing over 10,000 samples for genetic analyses.
Dr. Jason Comander is an Alumni of Harvard University and Harvard Medical School, where he also did his residency and fellowship in Ophthalmology. Jason’s research focuses on understanding the genetic causes of inherited retinal degenerations in order to develop better diagnostic treatment options. Dr. Comander is currently working on several projects, including:
- Genetic heterogeneity among patients with pericentral retinitis pigmentosa
- Functional characterization of human genetic variation in retinitis pigmentosa
- Translating optogenetic vision restoration therapies to a primate model (collaborator)
Jason is a member of the Mass. Eye and Ear Retina and Electroretinography Services. For more information on his clinic or to schedule an appointment, patients should click here.
Dr. Kinga Bujakowska earned her PhD in Molecular Genetics from the University College London, UK, where she studied the disease mechanism of a specific form of Retinitis Pigmentosa caused by mutations in the splicing factor gene PRPF31. She did her first post-doctoral training in the Insitut de la Vision, France, where she was involved in mapping new genetic defects in patients with Retinitis Pigmentosa and Congenital Stationary Night Blindness.
Kinga joined the Ocular Genomics Institute in September 2012, where she is involved in the genetic characterization of patients with inherited retinal degenerations.
Dr. Vandenberghe is trained as an engineer in biological sciences and received his Ph.D. in Biomedical Sciences from the Katholieke Universiteit Leuven in Belgium. His doctoral work focused on structure-function studies of the adeno-associated virus (AAV) and its use as a gene therapy vector in the Gene Therapy Program at the University of Pennsylvania (Penn). Shortly after his Ph.D., he was appointed Director of Translational Research of Penn’s Gene Therapy Program. Afterwards, Dr. Vandenberghe remained at Penn but joined the Kirby Center for Molecular Ophthalmology as a Senior Scientist. In 2012, Dr. Vandenberghe joined the faculty at Harvard where he directs the Gene Therapy Center and joined the leadership of the Ocular Genomics Institute.
Dr. Vandenberghe is a virologist and molecular engineer whose research is driven by the aspiration to broaden gene therapy approaches for blinding disorders. His bench-to-bedside program works in three main areas:
1. Biology and host response of gene transfer.
2. Development of enabling technologies to improve therapeutic gene transfer.
3. Translation of specific therapeutic programs for blinding disorders.
Dr. Liu was a trained Ophthalmologist and received her PhD on Molecular Ophthalmology from Peking Union Medical College in Beijing, China. Dr. Liu did her postdoctoral training at the F.M. Kirby Center for Molecular Ophthalmology at the Perelman School of Medicine at the University of Pennsylvania.
Dr. Liu’s previous research was focused on improving the understanding of the genetic causes and the molecular bases of inherited retinal degenerations (IRDs) using a combination of genetically modified animal models and molecular biologic approaches. Her work on photoreceptor sensory cilium and retinitis pigmentosa 1 laid the groundwork for many studies to follow. Her research program is dedicated to gain a better understanding of molecular mechanisms underlying IRDs and related ciliopathies, and to overcome hurdles of conventional AAV-mediated gene augmentation therapy for treating dominant IRDs and recessive IRDs that are caused by mutations in large genes. Her recent studies on the development of CRISPR/Cas9-based genome editing strategies provide a start point for facilitating translation of therapeutic gene editing programs into IRD therapies in human.
Li P, Kleinstiver BP, Leon MY, Prew MS, Navarro-Gomez D, Greenwald SH, Pierce EA, Joung JK, Liu Q. Allele-specific editing of rhodopsin P23H knock-in mice broadens therapeutic potential of CRISPR/Cas for dominant genetic diseases. CRISPR Journal 1:55-64, 2018.
Dr. Rachel Huckfeldt received her MD and PhD from Washington University in St. Louis. She did her residency in Ophthalmology at Harvard Medical School followed a research fellowship with Dr. Jean Bennett (University of Pennsylvania) and clinical fellowships in Medical Retina (University of Iowa) and Inherited Retinal Disorders (Mass Eye and Ear).
Dr. Huckfeldt is a member of the Mass Eye and Ear Retina and Inherited Retinal Disorders (IRD) Services and has clinical practices in medical retina and inherited retinal disorders. She is the institutional leader for many of the natural history and interventional clinic trials currently active on the IRD Service.
Dr. Huckfeldt’s research interests include understanding genotype-phenotype relationships in patients with inherited retinal degenerations as well as developing a better mechanistic understanding of retinitis pigmentosa-associated cystoid macular edema so that more effective therapies can be employed.
Dr. Rosario Fernandez Godino received her BS from the Universidad Complutense of Madrid in Spain. Chari worked at the Spanish National Center for Cancer Research and the Spanish National Center for Cardiovascular Research before obtaining her PhD in Genetics and Cellular Biology from the Universidad Complutense of Madrid in 2009.
Dr. Fernandez Godino studied putative mutations in rare diseases by Next Generation Sequencing Platforms as a postdoctoral researcher at the Medical Genome Project in Seville, Spain.
In November 2011, she joined the Ocular Genomics Institute, where she continues her research by studying the role of Complement System in age-related macular degeneration (AMD).