Scientific symposium was organised by Medical Genetics department at PGICH, Noida on 23rd July 2022. The theme of the symposium was Neurogenetic Disorders. The Medical Genetics department of the Institute organizes such scientific sessions for doctors across the country, every 3 months which involves expert speakers in the field. The invited speakers from the field of Medical Genetics included Dr Poonam Gambhir (Kanpur), Dr. Moni Bhatia (Rohtak), Dr. Meenal Aggarwal (Director, Medgenome Labs, Bangalore), Dr. Shivani Mishra (Dhanbad) and Dr. Ravneet Kaur (Chandigarh). The speakers touched upon various topics such as Neurocutaneous disorders, approaches to Microcephaly, neurodegenerative disorders, fetal/prenatal presentations of such illnesses and Spinal Muscular Atrophy along with Genetic testing in such Neurogenetic disorders. Smt. Shruti Singh (IAS) Director General, Department of Medical Education, Uttar Pradesh joined the session as Chief Guest. She told that Government is happy to see the success of the department in such short span in which it has catered to treatment of rare genetic disorders for a number of families. She also appreciated the efforts by the Director, Professor Dr Ajai Singh for effectively marching the Institute towards improved patient care and training of clinicians and researchers pan India. Dr Mayank Nilay (Medical Genetics) informed that these training sessions have been a boon for doctors in periphery and is helping in the early diagnosis and treatment of these rare genetic disorders. The Chairpersons for the session were Professor Dr. Jyotsna Madan and Dr. Manish Girhotra (CMS). The session was a huge success with around 150 doctors participating online/offline from all parts of the country and even nearby nations.
Professor Dr Ajai Singh told that approximately 10-15% children in the Pediatric Neurology OPD have varying genetic concerns. Neurogenetic disorders are quite important as such diseases have a long illness course and many a times, patients die without right diagnosis. Diseases with strong clinical handles where genetic testing is mandatory: neuromuscular disorders, inborn errors of metabolism, neurodegenerative disorder and mitochondrial disorders. The terms like Idiopathic Epilepsy (familial/refractory) and channelopathies (eg hypokalemic periodic palsy), all have been found to have a genetic basis. Genetic testing aids in future antenatal counseling for intellectual disability and syndromic child evaluation. Around 40%-80% of autistic spectrum disorders have some genetic predisposition. Spinal Muscular atrophy has high carrier prevalence (1 in 38) in our country and carrier testing for this should be made universal as has been done for thalassemia.
The day also marked the formal inauguration of the dedicated Genetic Laboratory (5th Floor) by the Honourable Director, Professor Dr. Ajai Singh. This lab will function under the expert supervision of Dr. Dinesh Sahu (Research Officer) and the faculties of Medical Genetics department. The Medical Genetics department will also have a dedicated Genetic counsellor, posted initially for two days a week (Monday/Thursday).
