Dr. Meenakshi Bhat

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

My team is involved in providing services,training and research in clinical genetics. We began providing clinical-genetic services at CHG and in hospitals served by CHG in 2006. We offer comprehensive genetic evaluation of families withrare disorders, genetic counselling and diagnostictesting. Prenatal clinics are conducted thrice weeklyat CHG and at other medical facilities served by CHG, including Indira Gandhi Institute of Child Health (IGICH) and Bangalore Fetal Medicine Centre (BFMC) in Bengaluru, and at Sri Siddhartha Medical College, Tumkur.

A first-of-its-kind Rare Diseases Centre of Excellence has been started at IGICH. This involves the active partnering of three institutions:CHG, IGICH and Organisation of Rare Disorders India (ORDI). This seven-bed day care ward has specialized nursing and administrative staff.Treatment of patients with lysosomal storage disorders (LSDs) and primary immune deficiency disorders is available here. Around 100 therapies are undertaken monthly. I have also been part of the core group of experts responsible for draftingthe Rare Diseases Policy for Karnataka and I am amember of the Indian Medical Advisory Board of Sanofi-Genzyme overseeing compassionate-access LSD therapy in India.

The focus of my clinical research involves detailed phenotypic studies in rare dysmorphic syndromes,congenital heart disease and lysosomal storage disorders. In collaboration with other faculty at CHG we are studying rare disorders such as Noonansyndrome, chromosome 22q11 micro-deletion,William syndrome, Gaucher disease and glycogen storage disorders, all of which have cardiac involvement.

As part of CHG's programme in translational medicine, we have partnered with a Bengaluru based company to produce low-cost medical dietsfor a number of early-onset inborn metabolicdisorders, including phenylketonuria and organic acidaemias. These have now received FSSAI approval and are being used throughout the country.

In association with a small software team, we have developed an electronic medical database to systematically store 27,000 medical records of patients with rare disorders evaluated at our centre in the last 12 years. This is a comprehensive program documenting patient details,investigations and photographs in a cloud-based system and linked to online genetic programs that will aid in pre-empting diagnosis of rare syndromes based on artificial intelligence. When complete,this will form a valuable resource for research and education and, in the long run, provide important epidemiological data about rare diseases.

Selected publications:

1.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.
2.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, PuriRD, 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.

3.Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses (MPS) typeI 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, PhadkeSR, Mandal K, Puri RD, Aggarwal S, Danda S,Shankar VH, Kapoor S, Bhat M, Gowrishankar K,Hasan AQ, Nair M, Nampoothiri S, Dalal A.

4.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.

5.Clinical and molecular characterization of Prader-Willi syndrome.Indian Journal of Pediatrics,84: 815-821 (2017).Sanjeeva GN,Maganthi M, Kodishala H, Marol RKR, KulshreshthaPS, Lorenzetto E, Kadandale JS, Hladnik U,Raghupathy P, Bhat M.

6.Does the clinical phenotype of mucolipidosis-IIIdiffer from its a counterpart?: supporting factsin a cohort of 18 patients.Clinical Dysmorphology,28: 7-16 (2019).Nampoothiri S, Elcioglu NH, KocaSS, Yesodharan D, Chandrababu KK, Krishnan VV,Bhat M et al.

7.Spectral domain optical coherence tomography in detecting sub-clinical retinal findings in AsianIndian children with Down syndrome.CurrentEye Research (doi: 10.1080/02713683.2019.1597128) (2019). Mangalesh S,Vinekar A, Jayadev C, Kemmanu V, Bhat M,Sivakumar M, Bauer N, Webers C, Shetty B.


Dr. Kruti Varshney
MD Paediatrics, Fellow in Paediatric Genetics

Dr. Vinu N
DNB Medical Genetics, MD Paediatrics

Silji George