MADURAI: B Ashok Kumar, associate professor, Department of Genetic Engineering, School of Biotechnology, Madurai Kamaraj University (MKU) has been awarded the Tamil Nadu Scientist Award (TANSA) 2021 by the Tamil Nadu State Council for Science and Technology under the discipline of Medical Sciences. He has worked on genetic diseases among the Indian population, especially in Tamil Nadu, and has published 115 research papers, awarded one patent and published four patents.
Speaking to TNIE, B Ashok kumar said the frequency of Duchenne muscular dystrophy and spinal muscular atrophy can be found in 1 of 1,400 male live births. Madras Motor Neuron disease (MMND), a rare neurological disorder originally identified in erstwhile Madras, has been reported below 500 cases worldwide. "However 80% of MMND cases are from the southern Indian population, especially people living in the borders of Tamil Nadu and Andhra Pradesh. Globally, more than 260,000 new Neural Tube Defect (NTD) cases are being reported, among which one to 80 NTDs per birth have high prevalence in low and middle-income countries. Due to improper registry, the exact frequency is not yet discovered," he said.
Ashok Kumar developed an interest to study the occurrence of clinical mutations and its functional consequences in the disease pathology among children, who are phenotypically diagnosed with genetic anomalies. "The major focus of my research for the last 10 years at MKU is on 'Uncovering the burden of rare genetic disorders of metabolism among the South Indian population'. With the financial support through various grants received from the funding agencies of India, I established a fully functioning genetic testing facility within the MKU premises for molecular diagnosis of rare genetic disorders," he stated.
So far, he has genotyped 150 patients and their family members along with 500 healthy individuals from Indian ethnicity using conventional as well as high throughput DNA sequencing technologies for free.
"The lab at MKU serves people from socially and economically deprived communities from Tamil Nadu. Such an identification and prevalence of mutations in the affected families among Indian populations may give the awareness about the syndrome and also provide immediate benefit with an efficient and accurate means to perform prenatal diagnosis. Primary care physicians and pediatricians usually are the first point of contact for most of these newborns, pregnant women and children even in the remote areas. The need of the hour is integration of genetic services into primary health medical services and educating communities of the aftermath of consanguineous marriages. With the correct preventive measures, genetic testing and screening, the existing state of birth defects can be controlled and managed effectively even if at a slow pace," said Ashok Kumar.