PROFILE
- I hold MBBS from D.Y. Patil Medical College, University of Mumbai, I pursued masters in Medical Genetics from University of Glasgow, UK.
- I had trained in Clinical Genetics & Cytogenetics from the prestigious Duncan Guthrie Institute of Medical Genetics, Glasgow, U.K. Being inclined towards contributing to the research field, then later I opted to do PhD in Medical Genetics from Manipal Academy of Higher Education (MAHE).
- I have been associated with Manipal hospitals since 2004 and currently heads the department of Medical Genetics at Manipal Hospital, Bangalore.
- I have more than two decades of experience in the field of field of Medical Genetics include Prenatal diagnosis, Genetic Counselling & Genetic disorders like Down syndrome, Autism,β-Thalassemia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy(SMA), Huntington Chorea etc.
PROFILE
I hold MBBS from D.Y. Patil Medical College, University of Mumbai, I pursued masters in Medical Genetics from University of Glasgow, UK. I had trained in Clinical Genetics & Cytogenetics from the prestigious Duncan Guthrie Institute of Medical Genetics, Glasgow, U.K. Being inclined towards contributing to the research field, then later I opted to do PhD in Medical Genetics from Manipal Academy of Higher Education (MAHE).
I have been associated with Manipal hospitals since 2004 and currently heads the department of Medical Genetics at Manipal Hospital, Bangalore. I have more than two decades of experience in the field of field of Medical Genetics include Prenatal diagnosis, Genetic Counselling & Genetic disorders like Down syndrome, Autism,β-Thalassemia, Duchenne muscular dystrophy (DMD) & Spinal muscular atrophy(SMA), Huntington Chorea etc.
POSITIONS / AFFILIATIONS
- HOD and Consultant Medical Geneticist in Manipal Hospitals Bangalore.
- Course Director for MSc Genomic Counselling & Fellowship in Molecular Genetic Pathology offered by Manipal Academy of Higher Education (MAHE).
- Professor of Practice in Cell Biology & Molecular Genetics in Sri Devaraj Urs Academy of Higher Education and Research, Kolar
- Recognized Guide for PhD in MAHE, Karnataka
AREAS OF EXPERTISE
- Developmental delay, Congenital abnormalities with/without dysmorphic features
- Down syndrome, Autism spectrum disorder, Intellectual disability
- Neuro-muscular disorders like SMA, DMD etc
- Deafness and Retinal abnormality
- Thalassemia and Haemophilia
- Recurrent pregnancy loss, Infertility, Primary amenorrhea
- Consanguinity or Pre-marital counselling
- Pregnancies with high risk for aneuploidies- Advanced maternal age, Double/Quadruple +ve or abnormal ultra sound findings
- Counselling for Pre-implantation Genetic Screening/diagnosis (PGS/D) & Non-Invasive Prenatal Screening (NIPT/NIPS).
- Cancer risk assessment like BRCA study
- Interpretation of Karyotyping/Microarray/NGS reports etc.
EDUCATION
Ph.D Medical Genetics
Manipal University (MAHE)
Short term fellowship
Duncan Guthrie Institute of Medical Genetics, York hill Hospital, Glasgow, U.K.
M.Sc. Medical Genetics
University of Glasgow, U.K.
M.B.B.S.
Padmashree. Dr. D.Y. Patil Medical College,
University of Mumbai.
SELECTED TRAINING
- “Quality management Systems & Internal Audit as per ISO 15189:2012”, July 2020.
- Master Class in IEM- Organized by Indian Society of Inborn Errors of metabolism, Pune, Jan 19
- PGS Workshop-Organized by ThermoFisher Scientific in Gurgaon, Jun 17.
- Hands-on Workshop on Analysis of Human Exome Data-Manipal University, Jan 16
- Hands-on Training on Exome and Targeted Resequencing- Manipal University, Aug 15
- Hands on Training in NGS & Bioinformatics- Manipal University, Nov 14
- Hands on training in FISH study in Cancer organized by St John Hospital B’lore, Feb 12
AWARDS & ACHIEVEMENTS
- Organized CME on “Integrating Genomics into Clinical Practice” (Jul 18) & “Autism awareness day” (Apr 19).
- Conducted public awareness programme on World Thalassemia Day (May 18) & World Down syndrome day (Mar 19).
- Established state-of-art genome diagnostic laboratory at Manipal Hospital,B’lore
- Received Fellowship from IBM Center for Advanced Study towards clinical research project.
- Best Poster award at National Neuroscience Conference, NIMHANS, Sep 04 for the paper “Expressing profiling of Glioma-Molecular Classification & Identification of Grade Specific Markers”
RESEARCH
- Principle Investigator “Cytogenetic studies on confined Placental mosaicism in Pre-eclampsia using expelled placenta” SDUAHER Research Grant, Jul 17 onwards
- Principle Investigator “Screening and molecular characterization of beta-thalassemia in anemic pregnant women” SDUAHER Research Grant, Apr 16-Mar 18
- Senior Research Fellow in ICMR Project on Jai Vigyan S & T Mission project on Community Control of Thalassemia, Manipal Hospital, B’lore, Oct 10-Jan 13
- Medical Research Officer in CSIR-NMITLI Project on New targets and Markers for cancer using Genomics Proteomics brain tumors (Glioma), Manipal Hospital, B’lore, Apr 04-Sep 05
SELECTED PUBLICATIONS
- Shetty M. “Genomics in infectious diseases” Pediatr Inf Dis 2021; 3 (2):57-https://www.pidjournal.
com/ abstractArticleContentBrowse/ PID/68/3//24436/ abstractArticle/Article - Jagadish Tavarekere V, Gomathy E, Mitesh shetty, Sharath Balakrishna “Confined Placental Mosaicism of chromosomal aneuploidy is not associated with preeclampsia: A pilot study” J Clin Biomed Sci 2021; 11(1): 21-25 http://www.jcbsonline.ac.in/
Articles/Volume11_Issue1/ Original%20Article-02.pdf
- M. Shetty, P. Venkatesh, S. Menezes, S. Hegde. “Chromosomal Microarray confirms a rare prenatal case of WAGR syndrome” in Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters. Eur J Hum Genet 28, 141–797 (2020). https://www.scienceopen.com/
document?vid=eb5dcc01-e035- 4f58-acf0-b6adf1924045 - Inadequate Pre-conception Counseling is a Major Challenge for Antenatal Management of β-Thalassemia: Experience from a Referral Centre in India.https://link.springer.com/article/10.1007/s12288-019-01206-6
- A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability https://www.sciencedirect.com/science/article/pii/S2452014418300736
- Identification of Intronic-splice site mutations in GATA4 gene in Indian patients with Congenital Heart Disease. https://www.sciencedirect.com/science/article/pii/S0027510717300660
- Factor V Leiden mutation in preeclampsia – A case-control South Eastern Indian study in a tertiary care hospital https://www.sciencedirect.com/science/article/pii/S0003277817305221
- A Homozygous Missense Variant in INPP5E Associated with Joubert Syndrome and Related Disorders https://www.karger.com/Article/FullText/479673
- Association of maternal angiotensinogen gene M235T polymorphism with preeclampsia in South India: A tertiary care hospital based case-control study
https://www.sciencedirect.com/science/article/pii/S2214540016300949
SELECTED TALKS
- “Behind the scenes! Peek into the working of a NBS Lab” in NATIONAL NEWBORN SCREENING SYMPOSIUM organized by National Neonatal Forum India (NNFI) on 26th Sep 2021
- “Spinal Muscular Atrophy Awareness Discussion” Facebook Live organized by Integrated Health & Wellbeing (IHW) Council on 27th Aug 2021.
- “Don’t Neglect Medical Genetics in Women’s Health” organized by Obstetrics & Gynecology Society of Bangladesh on 10th Jan 2021.
- “6th Edition of Year in Review Breast Cancer Conference” organized by Women’s Health Initiative by Tata Memorial Hospital, Mumbai held on 11th Jan 2021
- “Current status of Medical Genetics in India” Facebook Live organized by Cachar Chronicle on 18th Sep 20
- “Autism & Genomics” in Webinar on Insight into Autism & Fragile-X; organized by Indian Medical Association-Medical Student network in association with Fragile-X society, Indian on 22nd July 20
- “Our Experience of Chromosomal Microarray” in Celebrating 15 Years of Trusted Genomic Analysis with CGH on 26th Feb 20
- “Advanced Genetic Study with Interesting Case Scenarios” in Cloudnine-OAR Hospital on 11th Feb 20
- “Genetic disease Diagnosis & Gene therapy” in 41st CME in Internal Medicine organized by Association of Physicians of India & Medical Education and Research Trust, Bangalore on 22th Sep 2019
- Panel discussion ‘CME on Anemia in Pregnancy; titled ‘The Pale Gravida’ – A Challenge !?!? on 22-Sep-2019, Bengaluru organized by The Society for Maternal Fetal Medicine, (India).
- “Hereditary Cancer Syndrome” 6th National Level Conference of Association of Medical Biochemists Karnataka Chapter in AMBKCCON-2019, Mysore, 21st Sep 19
- “Genetic Counseling with Interesting Case scenarios” in 4th Annual conference of 3MGM2019, Chennai, 13th Sep 19
- “Genetic work up for Autism” in Autism Day on 2nd April 20 at Sterling Mac Hotel, B’lore
- “Panel discussion: What is new in the evaluation of cholestatic infant & children” in Pediatric Gastroenterology Update on 20th Dec 2018 at MH Academy, Manipal Hospitals, Bangalore
- “Lessons learned from Exome Sequencing & Cell-Free DNA” in Essential of Genetics in Obstetric Practice organized by Society of Maternal Fetal Medicine, B’lore, Dec 18.
- “Panel Discussion: Genetic Screening-A case based approach” in LIFE 2018-Infertility & Fetal Medicine organized by IIRRH.
- “Prenatal genetic diagnosis: medical facts about the diagnosis, the probable course of the disorder, and available management” in the Genetics Workshop organized by NIMHANS, Apr 18.
- Recognized Guide for PhD in Manipal Academy of Higher Education (MAHE)
- Guided PhD and M.Phil. students at SDUAHER,Kolar.
- Guided MSc students for dissertation submitted to MAHE-Dubai, SRM University & Vellore Institute of Technology
- Trained more than 10 students for Genetic counselling certification Course for MCOAHS.
MEMBERSHIPS
- European Board of Medical Genetics (EBMG)
- Indian Society of Human Genetics (ISHG)
- Indian Academy of Paediatrics-Genetics Specialty Chapter
- Bangalore Society of Obstetrics & Gynaecology
- Indian Society of Inborn errors of Metabolism
- Indian Society of Prenatal Diagnosis & Therapy
- Molecular Pathology Association of India
APPOINTMENT INFORMATION
Manipal Hospital
9th floor, Dept of Medical Genetics,
HAL Airport road, Bangalore-560017
080 250203440
1800 102 5555
Timings: 10:00 am– 2:00 pm Mon, Wed, Thurs & Saturday
https://g.co/kgs/6zDxqCP
Karthik Clinic & Karthik Ultrasound Scan Centre
207, 6th Cross, MICO Layout 2nd Stage,
Arekere, Bannerghatta Road, Bangalore – 560076
Ph – 080 2648 4030; Mob – +91 94835 43054
Visiting time:
Monday to Thursday (6 – 7 PM)