| Biography | |
|---|---|
 Dr. Kannan Vaidyanathan Dept of Biochemistry, Amrita Institute of Research Center (AIMS), India |
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| Title: Diagnosis of Inborn Errors of Metabolism in the OMICS-era | |
| Abstract: More than 500 individual inborn errors of metabolism (IEM) are described. While individually rare, the incidence for inborn errors of metabolism, collectively, is about 1 in 1,000 newborns. Undetected cases of metabolic disorders lead to permanent mental retardation. About one-third of pediatric mental retardation cases may be attributed to the inability to detect a metabolic disorder in early childhood. Sir Archibald E. Garrod (1857-1936) described the first IEM, alkaptonuria, in 1902. He coined the term “Inborn Errors of Metabolism” in 1908 (Garrod, 1908). Garrod’s tetrads are Alkaptonuria, Albinism, Pentosuria and Cystinuria. Total number of tests performed during a 5-year period was approximately 11,450. The following disorders were detected in our population Aminoacidurias - phenylketonuria, tyrosinemia, maple syrup urine disease, nonketotic hyperglycinemia, hypermethioninemia, urea cycle disorders, alkaptonuria; Organic acidurias – methylmalonic aciduria, propionic acidemia, isovaleric aciduria; Hyperhomocysteinemia, Pheochromocytomas and neuroblastomas, and congenital adrenal hyperplasia. With the changing times, the diagnosis of IEM has also changed. In the initial years, urine screening was used, later on with the advancement of technology, HPLC, GC/MS, and tandem mass spectrometry came to be employed. In the OMICS-era these technologies are used commonly, as are the genomic tools like next generation sequencing (NGS) for mutation detection. In the coming years, these technologies shall be relied upon more and more. The exciting times continue in the diagnostic industry. | |
| Biography: Dr. Kannan Vaidyanathan completed MBBS from Medical College, Kottayam in 1999 and MD (Biochemistry) from Medical College, Trivandrum in 2003. He did post doctoral fellowship in the Dept of Microbiology & Cell Biology at Indian Institute of Science, Bangalore from 2003 – 2006. He is Head, Molecular Biology & Professor, Dept of Biochemistry, Amrita Institute of Research Center (AIMS), Kochi since May 2019. He was Professor & Head, Dept of Biochemistry, Pushpagiri Institute of Medical Science, Tiruvalla from 2013-2019. Before that, he was heading the Metabolic Disorders Laboratory, AIMS and was Deputy Technical Manager of Amrita Laboratory Services from 2006-2013. He has also worked at Medical College, Kottayam and Co-Operative Medical College, Kochi, Kerala. Awards won include APFCB (Asia Pacific Federation of Clinical Biochemists) Silver Jubilee scholarship in Beijing, China (2007) and KP Sinha – PS Krishnan award for best original research article in Indian Journal of Clinical Biochemistry (2011). He is life member of various associations, including American Association of Clinical Chemistry (AACC) and Association of Clinical Biochemists of India (ACBI). Other major posts currently held include Managing Editor, Indian Journal of Clinical Biochemistry (IJCB), (2) South Zone Representative, Association of Clinical Biochemists of India (ACBI). He is co-author of three textbooks in biochemistry. He has more than 85 publications, including 25 in PubMed indexed journals. He has delivered more than 60 lectures in national and international conferences in 5 continents (USA, Europe, Australia, Africa and of course, Asia). He has guided 6 PhD students and more than 50 post-graduate students. He is examiner for MBBS, BDS, PhD and allied health sciences for various universities in India. Areas of research include inborn errors of metabolism, clinical chemistry and molecular biology. Hobbies include traveling, photography, arts, writing and reading. He is married with one child. | |
