Gene Therapy Strategies for Ciliopathies
What are Ciliopathies?
Cilia are unique cellular organelles that extend from the surface of the cell like an antenna. They are involved in regulating diverse signaling cascades, including sonic hedgehog signaling and photoreception. Being nearly ubiquitous, dysfunction of cilia results in severe disorders, collectively called Ciliopathies. These devastating disorders include developmental as well as adult-onset syndromic diseases, such as Joubert Syndrome, Meckel-Gruber Syndrome, polycystic kidney disease and retinal degeneration.
Dr. Hemant Khanna, PhD
A leading researcher for Ciliopathies
Hemant Khanna, PhD, is an Assistant Professor in the UMMS Department of Ophthalmology and a faculty member of the Horae Gene Therapy Center. Dr. Khanna obtained his Ph.D. from University of Delhi, India. He has received three patents for identifying novel therapeutic molecules for human infections and for identifying human disease genes. Dr. Khanna has also received Celebrate Invention Award and serves on the editorial board of international journals.
Hemant Khanna’s work focuses on understanding the mechanisms by which ciliary functions are altered in photoreceptor degenerative diseases. He collaborates with clinician scientists within and outside the US. Recent work from his lab and from collaborative research has led to the development of gene therapy for two forms of one of the most severe forms of inherited blindness disorders called X-linked retinitis pigmentosa. Dr. Khanna is also working on designing alternative therapies for childhood blindness disorder, called Leber congenital amaurosis.
Dr. Khanna's gene therapy strategy on Ciliopathies
Khanna's lab investigates molecular and cell biological basis of retinal ciliopathies that manifest as forms of blindness disorders, retinitis pigmentosa (RP), macular dystrophy, and Leber congenital amaurosis (LCA). Our studies focus on understanding the function of three ciliary disease proteins: RPGR (retinitis pigmentosa GTPase regulator), RP2 (retinitis pigmentosa 2), and CEP290 (centrosomal protein of 290 kDa). Using animal models (zebrafish and mice) representing human diseases, they are also developing novel treatment strategies for these devastating disorders.
Learn more about the cutting-edge research that Dr. Khanna
is conducting on the mechanisms of the Ciliopathies
and ways to interfere with the course of disease
Hemant Khanna, Ph.D.,
Associate Professor, Department of Ophthalmology and Horae Gene Therapy Center, University of Massachusetts Medical School