The Kellogg Eye Center has a long and rich history of leadership in the field of medical genetics and inherited retinal dystrophies. In 1941, Dr. Harold Falls established the University of Michigan Heredity Clinic, and was recognized by many experts as the founder of medical genetics in this country. A team of talented physicians and researchers carry on this proud tradition, and they are supported by an exceptional staff that coordinates patient care and research activities. During the last 15 years, Kellogg Eye Center faculty have produced several thousand peer reviewed articles, including studies identifying genes associated with specific retinal diseases, and reports on gene and stem cell therapy. The proven track record of leadership in the field has made the Kellogg Eye Center a destination for patients with inherited retinal dystrophies from around the world, and makes it uniquely positioned to transform cutting-edge research into successful patient outcomes.
- Robin R. Ali, Ph.D.
Dr. Ali is a Visiting Professor at the Kellogg Eye Center and a world leader in the development of gene and cell therapies for the treatment of retinal disorders. He led the world’s first trial of gene therapy for retinal dystrophy and in the field of stem cell research, was the first to show that it is possible to repair the retina of mice by transplanting stem-cell derived photoreceptor cells.
- Kari E. Branham, M.S., C.G.C.
Ms. Branham serves as the genetic counselor for patients in the Retinal Dystrophy Clinic at the Kellogg Eye Center. She provides genetic counseling for patients and families and coordinates genetic testing for them. She is also the liaison between patients and the laboratory for multiple genetic studies, including those examining the genetic bases of X-linked retinitis pigmentosa and age-related macular degeneration (AMD). Her contributions are essential to identifying candidate patients for therapeutic trials conducted by the Advanced Therapy Program.
John R. Heckenlively, M.D.
Dr. Heckenlively is the Paul R. Lichter Professor of Ophthalmic Genetics and has been evaluating retinal dystrophy patients for over 30 years. He is a world expert in inherited eye diseases and autoimmune disorders of the retina. A primary goal of his career has been to interface patients with the research lab to identify the underlying genetic causes and mechanisms of their diseases. He has contributed significantly to the identification of genetic mutations associated with retinal dystrophies and age-related macular degeneration. In his 25 years of research investigating retinal degenerations in inbred mice, his group found over 50 new retinal degeneration genes by identifying the eye diseases in mice and using mutational analysis techniques. Starting with the mouse information, many of the same genes were found to have mutations that cause retinal degeneration in humans. The mouse models have been useful in developing therapies and studying disease mechanisms for the same human disorders.
K. Thiran Jayasundera, M.D., FACS, FRCSC, FRANZCO
Dr. Jayasundera has a clinical practice and a research program focusing on inherited retinal degenerative diseases. His research program focuses on the discovery of novel diagnostic tests and prognostic measures to 1) provide patients with correct diagnoses and accurate prognoses, 2) help guide the proper choice of treatment, and 3) identify candidate patients for upcoming therapeutic trials. His dual fellowship training in both retinal dystrophies/electrophysiology and vitreoretinal surgery has prepared him for designing clinical trials to test novel technologies and perform subretinal delivery of gene or stem cell therapy.
Naheed W. Khan, Ph.D.
Dr. Khan has extensive expertise in both human and animal electrophysiology, which gives her a unique ability to conduct studies comparing mouse models to human models of inherited retinal diseases. Her studies focus on evaluation of the electrophysiology of mouse models of inherited retinal degenerations, and using the electroretinogram (ERG) to assess function following treatment with therapeutic compounds. She is an integral part of all studies conducted by the Advanced Therapy Program, through providing objective evaluation of improvements in visual function resulting from therapeutic intervention.
Rajesh C. Rao, M.D.
Dr. Rao is a clinician, surgeon, and scientist. In his research, Dr. Rao investigates the role of epigenetics in the pathogenesis of retinal disease. Epigenetics refers to changes in gene expression that are not related to a gene mutation or change in DNA sequence. His research makes use of animal models that express low or high amounts of epigenetic proteins. Dr. Rao also uses stem cell-derived retinal tissues to determine epigenetic mechanisms of disease, in order develop novel strategies for promoting retinal regeneration. One of his goals is to determine how small molecules can be used to reprogram cells such as skin and blood cells into functioning retinal cells to repair damaged eye tissue. As a clinician, Dr. Rao has carried out hundreds of surgeries, and is among few specialists with deep expertise in stem cell biology, epigenetics, and vitreoretinal surgery. His goal is to bridge the clinic, operating room, and laboratory to develop new treatments for patients, such as stem cell-derived tissue transplants to the diseased retina.
Debra A. Thompson, Ph.D.
Dr. Thompson’s work focuses on the molecular mechanisms of inherited retinal degeneration, particularly those impacting the vitamin A visual cycle and the function of the retinal pigment epithelium. Having participated in the identification of RPE65, LRAT, MERTK, and RDH12 as human disease genes, she studies the normal functions of these genes in the eye and also analyzes the effects of mutating each gene in corresponding mouse models. She is extending her studies on the pathogenic mechanisms of genetic mutations to developing targeted therapies for retinal degeneration.
David N. Zacks, M.D., Ph.D.
Dr. Zacks is a clinician-scientist whose research focuses on the molecular regulatory mechanisms controlling photoreceptor death or survival during retinal diseases such as retinal detachments, age-related macular degeneration, and ocular inflammatory disease. As a vitreoretinal specialist, Dr. Zacks has treated thousands of patients and performed hundreds of surgeries. His dual expertise in clinical treatment and basic science research makes him uniquely suited to carry out translational research and develop new therapies.
Collaborative Research Partners
Jeffery Stern, M.D., Ph.D.
Dr. Stern is a co-founder of the Neural Stem Cell Institute in Rensselaer, New York, the first independent, non-profit stem cell institute in the USA. His research focuses on stem cell applications for macular degeneration, retinitis pigmentosa, and other diseases of the retina and central nervous system. He is working with Kellogg to develop stem-cell-based therapies for ophthalmic disease.
Sally Temple, Ph.D.
Dr. Temple is a co-founder of the Neural Stem Cell Institute in Rensselaer, New York, the first independent, non-profit stem cell institute in the USA. She has done pioneering work in the field of stem cell research focusing on how neural stem cells alter their developmental potential over time to generate diverse cell types, and has identified cellular markers and signaling molecules that are involved in cell maintenance and differentiation. She is collaborating with Kellogg faculty on the development of stem-cell-based therapies for ophthalmic disease.