Ayellet Segrè, Ph.D.

Principal Investigator

Assistant Professor of Ophthalmology, Harvard Medical School

Assistant Scientist, Ocular Genomics Institute, Massachusetts Eye and Ear (MEE) Co-Director, Biostatistics and Bioinformatics Core, MEE

Associate Member, Broad Institute of Harvard and MIT

Member of the Genotype-Tissue Expression (GTEx) Project Consortium

E-mail: ayellet_segre [at]

Andrew Hamel, M.Sc.

Biostatistician / Computational Biologist

M.Sc. in Bioinformatics Program at Boston University

B.A. in Biochemistry and Molecular Biology; Minor in Mathematics, The College of Wooster, Wooster, Ohio

Andrew is interested in combining functional genomics and systems biology with genome-wide association studies of complex diseases to gain new biological insights on the causes of disease. He is currently working on developing GWAS-eQTL enrichment methods to identify regulatory mechanisms, genes, and tissues that are implicated by genetic associations with complex eye diseases.

E-mail: andrew_hamel [at]

Jacqueline Ohmura, Ph.D.

M.D. student at Harvard and MIT Health, Sciences and Technology (HST) MD program

Ph.D. in Biological Engineering, MIT

B.S. Materials Engineering, Ohio State University, Columbus, OH

Co-mentored with Prof. Janey Wiggs, Mass. Eye and Ear, HMS

Jackie is using soft clustering analysis (non-negative matrix factorization) across genetic associations of known glaucoma loci with multiple endophenotypes of primary open angle glaucoma to identify pathogenic mechanisms and biological subtypes of glaucoma.

E-mail: Ohmura [at]

Katherine Duchinski

Ph.D. student in the Bioinformatics and Integrative Genomics (BIG) Program, Harvard Medical School

B.S. in Biology and Data Sciences, College Of Charleston, Charleston, SC

Katherine is interested in integrating human genetics, functional genomics, and small molecule perturbational expression profiles to identify new drug repurposing opportunities for complex eye diseases, such as glaucoma and age-related macular degeneration.

E-mail: kduchinski [at]

Arushi Shrivastava, B.Sc.

M.Sc. student intern in the Bioinformatics Program at Boston University

B.S. in Biotechnology, JECRC University, Jaipur, Rajasthan, India

Arushi is interested in using single cell RNA-seq and GWAS data to estimate the heritability of glaucoma and AMD that is attributed to genetic variants in genes expressed in specific cell types in the front and back of the eye.


Puja Mehta, M.Sc.


B.S. in Biotechnology, Dayananda Sagar College of Engineering, Bengaluru, India

Puja is interested in using splicing QTLs in human retina to identify novel regulatory mechanisms that lead to age-related macular degeneration, and in integrating functional genomic data with GWAS to shed light on the causal mechanisms of eye disease.


John Rouhana, M.Sc.


M.Sc. in Bioinformatics, Northeastern University, Boston, MA

B.Sc. in Premedical and Health Studies, MCPHS University, Boston, MA

John worked on characterizing genetic associations with alternative splicing (sQTLs) in the human retina and developed a computational method that integrates single cell expression data and eQTLs and sQTLs with GWAS loci to uncover causal genes and pathogenic cell types for complex diseases, such as glaucoma and AMD.

E-mail:John_Rouhana [at] MEEI.HARVARD.EDU

Jiali Wang, M.Sc., Ph.D.


Ph.D., Statistics, Australian National University

M.Sc.., Statistics, Australian National University

B.S., Mathematics, Capital Normal University

Jiali is Interested in method development and applying statistics and machine learning approaches to large-scale human genetic studies to uncover the genetic and biological causes of complex eye diseases. She developed polygenic risk scores for glaucoma with the UK Biobank study and worked on a Pharmacogenetic study of differential response to novel treatments for diabetic retinopathy.

E-mail: Jiali_Wang [at]