Training & Research


Teaching Training:
  • First DM program in Medical Genetics started in 1990 and till date 43 student have passed out and are heading different medical genetics centres all over India.
  • PDCC Clinical Genetics & Genomics: Started in 2021. Admissions are through entrance examination conducted by SGPGIMS. Duration is 12 months. Anyone with postgraduate medical degree in any speciality i.e. MD / MS
  • Ph D program Students who received PhD degrees are working in various research departments.
  • ICMR course in Medical Genetics and Genetic Counseling: 15 day course held every year for last 18 years. Trained more than 500 clinicians during last 18 courses and is very popular all over India
  • DBT funded ‘Training for Clinicians’ started in 2019. It is for doctors in government hospitals. Currently a batch of 2 students had joined. Four students for 6 months each for 5 years will be trained in genetic diagnostics.
  • Telemedicine Meeting: Once a month with 5 to 10 medical genetics centres in India for last 10 years. It helps to share experiences of rare disorders.
  • Observers [including recipients of Genzyme- SIAMG Fellowship] and summer trainees are regularly being taken and are provided experience in medical genetics and laboratory methodologies.
  • Short term training for M Sc / M Tech students: Students from many prestigious universities all over India apply and get trained in various research genetic laboratory techniques.

Department of Medical Genetics Research Projects in the last 10 years
SN Title of Project Principal Investigator Funding Agency Budget (Rs In lakhs) Year of Starting Duration [Complete/ Ongoing/ Sanctioned]
1 Functional characterization of rare founder alleles causing neurodevelopmental disorders for biomarker identification and community genetics surveillance Dr. Anshika Srivastava Ramalingaswami Fellowship DBT, India 45 2020-2025 Sanctioned
2 Whole-exome sequencing based genetic testing and functional characterization of rare pathogenic alleles causing neurodevelopmental disorders for biomarker identification Dr. Anshika Srivastava ICMR, India 140 2020-2023 Sanctioned
3 Probing the dynamic balance of histone H2AUb1 regulatory axis in hypertrophic cardiomyopathy and early heart development Dr. Anshika Srivastava IYBA DBT, India 61 2020-2023 Ongoing
4 Study of genotypes and phenotypes of autosomal recessive osteogenesis imperfecta and search for new genes in patients osteogenesis imperfecta with no mutation in known genes Dr. Shubha R Phadke ICMR, India 21.57 2019-2020 Ongoing
5 Study of genetics clinical and genotypic profile of arthrogryposis . Dr. Amita Moirangthem SGPGIMS, Intramural grant 4.9 2019-2021 Ongoing
6 Training of in-service Clinicians from Government Hospitals and Outreach Program for Aspirational Districts Dr. Shubha R Phadke DBT, India 123 2019-2021 Ongoing
7 National registry for rare and other inherited disorders Dr. Shubha R Phadke ICMR 39.76 2019-2024 Ongoing
8 Investigating the genetic contributors to spinocerebellar ataxia in Indian population Dr. Anshika Srivastava SGPGIMS, Intramural grant 5 2019-2021 Ongoing
9 To study sequence variations in genes involved in chromosome / chromatid separation including cohesin – condensing complex, kinetocore complex and centromeric proteins in mothers of individuals with trisomy 21 to find out the genetic factors predisposing non-disjunction Dr. Shubha R Phadke SGPGIMS Intramural grant 5 2018-2020 Ongoing
10 The Indian Movement Disorder Registry and Biobank: Clinical and Genetic Evaluation of Movement Disorders in Indian Patients Dr. Shubha R Phadke DBT, India 47.5 2018-2021 Ongoing
11 Plasma exosomal micro RNA and proteome profiling in autism spectrum disorder chilDr.en’s: probing for biomarkers Dr. Sarita Agarwal SERB 80 2017-2020 Ongoing
12 Study of genetic of Parry Romberg syndrome Dr. Deepti Saxena SGPGIMS 3 2017-2019 Completed
13 Predicting Oxidative Injury in Homozygous Beta Thalassemia patients through Biochemical and Genetic Markers. Dr. Sarita Agarwal RCST, UP 6.80 2016-2018 Completed
14 Molecular characterization of premature ovarian failure cases and healthy females by TP-PCR for detecting permutation carrier frequency Dr. Sarita Agarwal SGPGIMS, Lucknow 3 2015-2018 Completed
15 Genomic studies into limb malformations and related syndromes Dr. Shubha R Phadke DBT, India 97 2015-2018 Completed
16 Multi Centric Collaborative Study of the Clinical Biochemical and Molecular Characterization of Lysosomal Storage Disorders in India: The Initiative for Research in Lysosomal Storage Disorders Dr. Shubha R Phadke ICMR/DHR 30 2015-2018 Completed
17 Study on genome wide analysis of sub microscopic genetic aberration in children with idiopathic intellectual /multiple congenital anomalies. In association with JIPMER, Pondichery Dr. Sarita Agarwal DBT, India 48 2014-2017 Completed
18 Centre for Molecular Medicine Dr. Shubha R Phadke ICMR, India 499 2012-2017 Completed
19 Evaluation of utility of cytogenetic microarray in detection of etiology of Prenatally detected malformation Dr. Shubha R Phadke SGPGIMS Intramural grant 3 2012-2014 Completed
20 Mutation analysis of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta Dr. Shubha R Phadke ICMR, India 9.3 2011-2014 Completed