Genetics

Cohen, Pinchas

Distinguished Professor of Gerontology, Medicine and Biological Sciences

The Cohen lab studies mitochondrial microproteins. We take a systems biology approach to mitochondria, looking at mitochondrial ORFomics, mito-genomics, mitochondrial-epigenetics, mito-transcriptomics and mitochondrial-proteomics. Our discovery pipeline involves novel bioinformatic approaches to clone and advance disease-relevant mitochondrial-derived peptides. We utilize MiWAS (mitochondrial GWAS), MDPseq (mitochondrial RNAseq) and related tools, to identify new microproteins involved in diseases of aging. Over the last two decades we described multiple novel genes including humanin and its cytoprotective and neuroprotective roles; MOTS-c, which is an exercise-mimetic peptide in which a loss-of-function mutation predisposes to diabetes, that has been advanced to clinical trials in humans; SHLP2, which is involved in neurodegenerative diseases; SHMOOSE, a neuroprotective microprotein that harbors a mutation that predisposes to Alzheimer’s disease, and multiple other previously unrecognized microproteins. Our goal is to continue to develop diagnostic tools and therapeutic targets for health aging

Craft, Cheryl Mae

Professor of Ophthalmology

My well established vision research program encompasses my passion for discovery and deciphering rod and cone phototransduction mechanisms in health and disease using animal models for retinal degeneration. Throughout my academic career my research discoveries identified key genes in the pineal and retina, including arrestins to maintain normal high acuity vision. Currently, my personal goals include developing alternative therapeutic rescue treatment strategies with replacement gene therapy and in vitro stem cell technology. With Cobrinik and collaborators, we identified key developmental cone regulators controlling retinoblastoma genesis. I strongly believe in the importance of mentoring vision and clinician scientists and providing medical ethical training doctoral and medical students, and society.

Gnedeva, Ksenia

Assistant Professor of Otolaryngology - Head and Neck Surgery and Stem Cell Biology & Regenerative Medicine

Our perception of the environment relies on specialized cellular receptors residing in epithelial sensory organs. While olfactory and gustatory receptor cells are naturally reproduced throughout life in order to sustain the senses of smell and taste, age-related degeneration of retinal, auditory, and vestibular sensory organs is largely irreversible in humans. In the Gnedeva laboratory, we interrogate how molecular signaling and tissue mechanics control embryonic sensory organ growth and how the developmental programs of self-renewal and differentiation can be re-initiated in the mammalian inner ear after damage. Although the focus of our research is on hearing and balance restoration, our lab has broader interest in the common mechanisms that suppress regeneration in specialized sensory tissues.