Dr. Anuprita Ghosh
Senior scientist & Genetic Counsellor
Dr. Anuprita Ghosh
Senior scientist & Genetic Counsellor
GROW Research Laboratory,
Narayana Nethralaya, Narayana Health city,
# 258/A, Bommasandra Hosur road,
Phone 08066660712, 08066660715
The following are my research interests in GROW lab.
Project I: Developing Curcumin and vitamin D based natural product immunomodulators for treating blinding corneal disorders and regeneration
[Centres of Excellence in Science, Engineering and Medicine (CESEM); Vision Group on Science and Technology (VGST) GRANT 2016-2019]
Ocular surface associated blindness is a major world-wide problem that can be prevented is expected to add another 3.6 million blind by 2020. Diseased, degenerating or damaged corneas are a primary cause of preventable blindness in the world today. In India alone, there are over 7 million people with preventable corneal blindness of which over 1 million require a corneal transplant to recover vision. However, donor corneas available are very few in comparison; thereby rendering many subjects to a lifetime of blindness, reduced productivity and poor quality of life. Most of these conditions can be prevented by early detection and management. These conditions include corneal wounds/scarring (in defence sector, in factories, accidents, childhood trauma etc), adverse refractive surgery complications, infections, keratoconus, Keratitis, trachoma and corneal erosions. In most cases, the pathogenesis and progression characteristics of the disease are not quite well characterised.
We have discovered novel associations of Vitamin D with specific pro-inflammatory factors in tears of patients with corneal disease. Using in vitro models we also observed immunomodulation as a possible therapeutic modality for such conditions and curcumin is therefore hypothesized as one such effector. A greater understanding of these molecular immunological processes will emerge by directly studying the different stages of blindness risk corneal conditions like corneal scars, post-PRK corneal haze and keratoconus. If we have a greater understanding of these diseases, many of these conditions can be managed by early intervention such that the need for a cornea transplant does not arise. Hence, harnessing the utility of natural products like Curcumin and Vitamin D that have known immunomodulatory functions for topical applications would be beneficial in the management and prevention of potentially blinding corneal conditions. There are no such formulations of natural compounds available that have specific utility in immunomodulation for human disease since the basic molecular mechanisms are not well understood. In addition, some currently available eye drops are not for specific application to corneal surface disorders and hence it is important to assess functionality of these molecules on specific disease related molecular pathways in human eye.
Project II: Characterization of inherited retinal dystrophies (IRDs) in Indian population
Inherited retinal dystrophies (IRDs) are a group of ocular disorders of the retina causing blindness in more than 2 million people worldwide. IRDs are characterized by degeneration of retinal pigment epithelium and the photoreceptors causing progressive loss of vision. IRDs are often misdiagnosed due to the genetic heterogeneity and overlapping clinical phenotypes. Currently there is gene therapy available only for IRD caused by mutation in the gene RPE65. For the rest of the gene mutations, it is still a long way from therapy. The genetic database available consists of gene mutations commonly found in the European population. Only in recent times more and more Indian people affected with IRDs are coming forward for genetic testing. This gives an opportunity to create our own database of patients with IRDs, their clinical phenotype and the gene mutation. At Narayana Nethralaya, the Gen-Eye clinic came into existence for this purpose and it is an opportunity to educate patients and their family members about the disorder, genetic testing and the current scientific knowledge and thus empowering them to make the right choices. The genetic test finding also aids in the accurate clinical/phenotype-genotype correlation. This database will also be used to characterize the different gene mutations and determine the function of novel gene mutations to understand the pathogenesis and molecular signalling of IRDs.
Gen-Eye Clinic: Genetic counselling and testing for Eye Genetic disorders
What are inherited eye genetic disorders?
Eye disorders due to a mutation/mistake/error in a gene are called eye genetic disorders. Person with this disorder may or may not have a family history but, carries the risk of passing on the gene mutation to the next generation.
Who are referred to genetic counselling at the Gen-Eye clinic, Narayana Nethralaya (NN), Bangalore?
- Patients with eye genetic disorder
- Family/relatives at a risk of developing heritable eye disorder
- Couples planning to start their family and with family history of a genetic eye disorder
|What can you expect during your visit at the Gen-Eye clinic at NN? |
1. Drawing a pedigree/Family history
2. Genetic counselling [Pre-test genetic counselling]
a) Information about the genetic eye disorder and inheritance pattern
b) Information about the Genetic testing
3. Post-test genetic counselling (to discuss the genetic test report)
|Genetic Counselling and testing is provided for:|
Eye Genetic Disorders like
|Advantages of a Genetic Test:||Whom to contact for an appointment for genetic counselling? |
Phone number: 08066660712