Dr. Meenakshi Bhat

Qualifications

MD (Paed), KEM Hospital, Mumbai
DNB (Paed), Diplomate National Board, New Delhi
MRCP (Paed), Royal College of Physicians of Ireland, Dublin, Ireland
CCST (Clinical Genetics), Royal College of Physicians, London, UK

Research & Clinical Focus

Dr. Meenakshi Bhat's team is involved in providing services, training and research in clinical genetics. Clinical-genetic services were initiated at the Centre for Human Genetics and hospitals served by CHG in 2006.

The team provides comprehensive genetic evaluation of families with rare disorders, genetic counselling and diagnostic testing. Prenatal clinics are conducted three times a week at CHG and at other medical facilities served by CHG.

Her clinical research focuses on detailed phenotypic studies in rare dysmorphic syndromes, congenital heart disease and lysosomal storage disorders.

In collaboration with other faculty at CHG, research is being conducted on rare disorders including Noonan syndrome, chromosome 22q11 micro-deletion, William syndrome, Gaucher disease and glycogen storage disorders, all of which have cardiac involvement.

Clinical Programmes

Prenatal Genetics

Prenatal clinics are conducted three times weekly at the Centre for Human Genetics and at medical facilities served by CHG, including Indira Gandhi Institute of Child Health (IGICH), Bangalore Fetal Medicine Centre (BFMC) in Bengaluru, and Sri Siddhartha Medical College, Tumkur.

Rare Diseases Centre of Excellence

A first-of-its-kind Rare Diseases Centre of Excellence has been established at IGICH through active collaboration between the Centre for Human Genetics, IGICH and the Organisation of Rare Disorders India (ORDI).

The seven-bed day-care ward has specialised nursing and administrative staff and provides treatment for patients with lysosomal storage disorders and primary immune deficiency disorders.

Around 100 therapies are undertaken monthly.

Professional Contributions

Dr. Bhat has been part of the core group of experts responsible for drafting the Rare Diseases Policy for Karnataka.

She is also a member of the Indian Medical Advisory Board of Sanofi-Genzyme, overseeing compassionate-access lysosomal storage disorder therapy in India.

Translational Medicine

As part of CHG's programme in translational medicine, Dr. Bhat's team has partnered with a Bengaluru-based company to produce low-cost medical diets for early-onset inborn metabolic disorders, including phenylketonuria and organic acidemias.

These medical diets have received FSSAI approval and are being used throughout the country.

Digital Health & Research

In association with a small software team, an electronic medical database has been developed to systematically store approximately 27,000 medical records of patients with rare disorders evaluated at the centre over a 12-year period.

The cloud-based system documents patient details, investigations and photographs and is linked to online genetic programmes. It is intended to aid in pre-empting the diagnosis of rare syndromes using artificial intelligence.

When complete, the database will provide a valuable resource for research and education and, in the long term, important epidemiological data about rare diseases.

Selected Publications

The practice of genetic counseling in India. In Genomics and Health in the Developing World, Ed. Dhavendra Kumar. Oxford Monographs on Medical Genetics, Oxford University Press, 2012. Bhat M.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics A, 170: 2719–2730, 2016.
Ranganath P, Matta D, Bhavani GS, Wangnekar S, Jain JMN, Verma IC, Kabra M, Puri RD, Danda S, Gupta N, Girisha KM, Sankar VH, Patil SJ, Ramadevi AR, Bhat M, Gowrishankar K, Mandal K, Aggarwal S, Tamhankar PM, Tilak P, Phadke SR, Dalal A.
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses (MPS) type I and type II. Clinical Genetics, 90: 486–508, 2016.
Uttarilli A, Ranganath P, Matta D, Jain JMN, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Shankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A.
Mucolipidosis type II secondary to GNPTAB gene deletion from India. Journal of Pediatric Neurosciences, 12: 115–116, 2017.
Gowda VK, Raghavan VV, Bhat M, Benakappa A.
Clinical and molecular characterization of Prader-Willi syndrome. Indian Journal of Pediatrics, 84: 815–821, 2017.
Sanjeeva GN, Maganthi M, Kodishala H, Marol RKR, Kulshreshtha PS, Lorenzetto E, Kadandale JS, Hladnik U, Raghupathy P, Bhat M.
Does the clinical phenotype of mucolipidosis-III differ from its α counterpart?: supporting facts in a cohort of 18 patients. Clinical Dysmorphology, 28: 7–16, 2019.
Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Chandrababu KK, Krishnan VV, Bhat M et al.
Spectral domain optical coherence tomography in detecting sub-clinical retinal findings in Asian Indian children with Down syndrome. Current Eye Research, 2019.
Mangalesh S, Vinekar A, Jayadev C, Kemmanu V, Bhat M, Sivakumar M, Bauer N, Webers C, Shetty B.