Madhu N, Yasha TC, P. Govindaraj, Nandeesh BN, AB Taly
Neurobiology Research Centre
Clinical neuromuscular expertise, patients, and geographical region: NIMHANS (http://www.nimhans.ac.in/) is an institute of national importance for patient care and academic pursuit in the frontier area of mental health and neurosciences. NIMHANS caters to patients from all over India, particularly from South India, and neighbouring countries. A committed team of neurologists with years of expertise routinely handle neuromuscular disorders. Over one hundred patients with mitochondrial disorders and inherited neuropathies undergo thorough clinical evaluation followed by electrophysiology and imaging annually. A speciality clinic for neuropathies is run every week for providing comprehensive care including rehabilitation measures. A specialty clinic for patients with mitochondrial disorders is under way.
Genetics and preclinical science expertise
NIMHANS has several basic science departments. The department of Neuropathology, the only one of its kind in the country with full-time experienced and dedicated neuropathologists offers comprehensive and advanced diagnostic services in muscle and peripheral nerve disorders, mitochondrial disorders, among others and has facilities for ultrastructural studies. NIMHANS has the Neurobiology Research Centre (http://www.nimhans.ac.in/neurobiology-research-centre-nrc), a core research facility with 18 well-equipped state-of-the-art labs including the Neuromuscular Laboratory which is the research arm of the department of Neuropathology. It houses the 'myo-bank', and has the expertise and infrastructure for sequencing, respiratory chain complex assays, western blots, immuno-diagnosis, cell culture work, etc.
Summary of current research programmes:
Work at NIMHANS in the last decade has created an effective platform for research in the field of mitochondrial disorders and inherited neuropathies. Our centre is one of the first in India to identify several novel variants in mitochondrial DNA, evaluate children and adults with deficient respiratory chain complex activity, explore nuclear-mitochondrial intergenomic communication disorders, characterize POLG-related disorders, carry out focused exome sequencing, study the utility of FGF-21 and initiate generation of cybrid models. Two large cohorts of inherited axonal and demyelinating neuropathies have been analysed for the presence of abnormalities in common genes viz MFN2, PMP22, MPZ and GJB1.
5 best papers from the past 5 years:
Bindu PS, Sonam K, Chiplunkar S, Govindaraj P, Nagappa M, Vekhande CC, Aravinda HR, Ponmalar JJ, Mahadevan A, Gayathri N, Bharath MS, Sinha S, Taly AB.Mitochondrial leukoencephalopathies: A border zone between acquired and inherited white matter disorders in children? MultSclerRelatDisord. 2018, 20:84-92.
Khan NA, Govindaraj P, Soumittra N, Sharma S, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Bindu PS, Gayathri N, Taly AB, Thangaraj K.Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India.Invest Ophthalmol Vis Sci. 2017, 58:3923-3930.
Sonam K, Bindu PS, Srinivas Bharath MM, Govindaraj P, Gayathri N, Arvinda HR, Chiplunkar S, Nagappa M, Sinha S, Khan NA, Nunia V, Paramasivam A, Thangaraj K, Taly AB.Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India.
Mitochondrion. 2017, 32:42-49.
Bindu PS, Govindaraju C, Sonam K, Nagappa M, Chiplunkar S, Kumar R, Gayathri N, Bharath MM, Arvinda HR, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K, Taly AB.Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Mitochondrion. 2016, 27:1-5.
Bindu PS, Arvinda H, Taly AB, Govindaraju C, Sonam K, Chiplunkar S, Kumar R, Gayathri N, Bharath Mm S, Nagappa M, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K.Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion. 2015, 25:6-16.
How the new international centre will benefit research and clinical programmes:
This International Centre will enable the detection of population-specific genetic variations among patients with mitochondrial disorders and hereditary neuropathies as well as comparison across continents through common pipelines. Further, this will set platform for future collaborative studies in this field including functional characterisation.
Establishing genetic diagnosis will end diagnostic odyssey and enable customised care. This program will generate a cadre of fellows and scholars with the necessary expertise to carry forward clinical and research work in a sustainable manner. It will also facilitate setting up registries and trial-ready cohorts and facilitate policy planning in India.