Equipped with the most advanced facilities to perform the genetic diagnostic tests using  Real Time Polymerase Chain Reaction, Sanger sequencing and Next Generation sequencing

The Thiruvananthapuram-based Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST), with the financial support of Department of Science and Technology (DST), Government of India, has established a Molecular Genetics and Neuroimmunology Unit (MGNU) for genetic testing of selected cardiac and neurological inherited diseases. This involves examination of DNA for mutations in genes that may cause specific diseases. Dr. V. K.Saraswath, President, SCTIMST, inaugurated the facility on Wednesday.

SCTIMST is an advanced referral centre under DST, GoI, for neurological and cardiovascular diseases and patients are referred  to the centre not only from all over Kerala but also other  neighbouring states for the management of such genetic diseases.

This diagnostic  platform will be available to patients from SCTIMST and hospitals outside (specifically for multigene panels for diseases such as Neuromuscular diseases  (Muscular dystrophies, Hereditary neuropathies, Muscle Channelopathies and Myotonic syndromes), Movement disorders (Parkinson’s Disease, Huntington’s Disease), Neurodevelopmental disorders, Channelopathies, Epilepsy syndromes, Inherited metabolic diseases, Mitochondrial diseases  and for identification of bacteria from  body fluids.

Some genetic diseases run in the family and others occur “de novo” (start with the person who is affected).   Besides diagnosis,  advanced genetic testing also  plays a vital role in determining the risk of developing certain diseases, screening of diseases  and for guidance in instituting appropriate medical treatment.  Testing whether a disease is inherited or not can help in planning families and for other  members in the family to be tested.  However, testing of unaffected family members will be offered only after proper counseling and if necessary.

With the establishment of these advanced high- throughput sequencing technologies it has become possible to sequence more genes and more samples in a single run. This will  overcome the limitations in terms of costs, speed and throughput which will benefit clinicians and patients alike. This diagnostic facility opens new avenues for extensive research and genomics and aids existing and new research projects including conduct of  collaborative research work within and outside the country.  The unit has been equipped with the most advanced facilities to perform the genetic diagnostic tests using  Real Time Polymerase Chain Reaction, Sanger sequencing and Next Generation sequencing. This is the first centre with such an advanced sequencing platform in Kerala.

The long-term plan of the genetic diagnostic unit is to establish a robust bioinformatics platform to provide support for disease diagnosis and management, molecular characterization of diseases for individualization of treatment, prenatal screening for fetal genomic disorders, population screening for disease risk, pharmacogenomics, identification of novel genetic biomarkers and genetic counselling.

By Manoj

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