The Department of Medical Genetics is a vibrant center of research and education. Our faculty explores a wide range of topics-from simple monogenic disease to complex genetic disorder such as cancer using state-of-the-art sequencing technologies and model organisms. The Department of Medical Genetics is committed towards providing cutting-edge innovations in both basic and translational research supported by intra and extramural funding. The department contributes extensively to the scientific community with numerous publications every year in peer-reviewed journals, reflecting the quality and impact of its research endeavours.
| Sl. No. | Title of the Project | Principal Investigator | Co-Principal Investigator | Funding agency | Date of Sanction | Duration | Amount sanctioned |
|---|---|---|---|---|---|---|---|
| 1. | Molecular mechanism underlying skeletal muscle wasting in Cancer cachexia | Dr. Vinay Kumar MB | Dr. Akila Prashant Dr. Suma M N | SERB CRG | 23 June 2023 | 3 years | 53,57,240/- |
| 2. | ICMR-CCOE (Collaborating Centre of Excellence) | Dr. Akila Prashant | Dr. M N Suma, Dr. Prashant Vishwanath, Dr. MVSST SubbaRao, Dr. Rajesh Kumar T, Dr. Prasanna Kumar S, Dr. Devananda D, Dr. Swetha N K, Dr. Kusuma K S, Dr. Dr. Sujatha P, Dr. Anjali Devi B S, Dr. Divya P Kumar, Dr. Shobha C R, Dr. Abhijith D, Dr. Sahana K R, Dr. Vinay Kumar M B, Dr. Arpitha M R, Dr. Anshu Kumar Yadav | ICMR | Nov 2023 | 5 years | |
| 3. | Cellular and molecular mechanisms> underlying non- small cell lung cancer progression from localized to metastatic disease: Specific role of alveolar epithelial type II (AT2) cells and Misshapen-like serine/threonine kinase 1 (MINK1)> in AT2 cells | Dr. Suvilesh Kanve Nagaraj | - | Department of Biotechnology (DBT) | 04 Sept 2025 | 3 years | 90,00,000/- |
| 4. | ICMR’s Taskforce on Establishment of Reference Intervals in Indian Population (TERIIP) | Dr. Akila Prashant | Dr. MN Suma, Dr. Prashant Vishwanath, Dr Swetha N.K, Dr. Kusuma K S, Dr. Shobha CR, Dr. Abhijith D, Dr. Sahana KR, Dr. Arpitha M R, Dr. Rajalakshmi B.R. Dr. Vani Krishnamurthy, Dr Sunil Kumar D, Dr. Mythily M R, Mr Arun Gopi, Dr. Venkatesh C R, Dr. Rashmi.N | ICMR | 2025 | 3 years | 37,95,000/- |
| Sl. No. | Name of the principal investigator | Title of the project | Name of the funding agency & Scheme | File No. | Grant amount (Rupees in Lakhs) | Period (month, year to month, year) |
|---|---|---|---|---|---|---|
| 1 | Dr. Akila Prashant | Comparative assessment of cytokines and other inflammatory markers in conjunction with nutritional assessment for the diagnosis of neonatal sepsis. | ICMR | Immuno/18/11/11/2008-ECD-1 | 24.55 | 2009, 3 years |
| 2 | Dr. Akila Prashant | Novel in-house multiplex PCR guided management of neonatal sepsis in a tertiary care hospital in South India. | ICMR | 5/7/708/11-RHN | 19.81 | 2015, 3 years |
| 3 | Dr. Akila Prashant Dr. Prashant V. & Dr. Devananda D. (Co-PI) | Mitochondrial DNA copy number as a novel biomarker for cardiac complications in beta-Thalassemia major. | ICMR | DHR/HRD/SUG-13/2015-16 | 30.00 | 2016-2020 |
| 4 | Dr. Akila Prashant | Isolation of colorectal cancer stem cells based on biomarker expression and test the efficacy of Piper nigrum as an anticancer agent for further use in translational studies | VGST | VGST/P-7/CESEM/2011-12/1141 | 60.00 | 2012- 2021 (2015-2020, 5 years) |
| Sl. No. | Title of the Project | Principal Investigator | Funding agency | Date of Sanction | Duration | Amount sanctioned |
|---|---|---|---|---|---|---|
| 1. | The effect of vitamin D supplementation on oxidative stress and renoprotection in streptozotocin- induced diabetic rats | Dr. Akila Prashant | JSS AHER | 6/3/2023 | 2 years | 1,00,000/- |
| 2. | Generation of a genetic risk score to discriminate between type I and type II diabetes in Indians | Dr. Akila Prashant | JSS AHER/ CSIR-CCMB | 27/06/2023 | 3 years | 2,00,000/- |
| 3. | Gut Microbiota Profiling In Transfusion Dependent Beta Thalassemia Patients, A Comparative Analysis With Healthy Controls | Dr. Akila Prashant | JSS AHER | 29/10/2025 | I year | 3,00,000/- |
| 4. |
Screening and Evaluation of Genetic Variants Associated with Pregnant Women: A Reproductive Genetics Perspective |
Dr. Praveen Kumar K.S. | JSS AHER | 31/01/2025 | 3 years | 3,00,000/- |
| 5. | Genomic profiling of Neurodevelopmental diseases using Massive Parallel Sequencing | Dr Prince Jacob | JSS AHER | 15/10/2024 | 3 years | 3,00,000/- |
| 6. | Genetic And Functional Analysis Of Toll-Like Receptor 4 In Chronic Otitis Media: Implications For Disease Susceptibility And Treatment | Dr. Jagadisha T V | JSS AHER | 01/08/2025 | 3 years | 3,00,000/- |
| Sl No | Title of the project | PI | Guide | Date of sanction | Amount sanctioned | Duration | Date of Completion |
|---|---|---|---|---|---|---|---|
| 1 | Evaluating the Impact of HDAC6 Inhibitors on Duchenne Muscular Dystrophy (DMD). | Ananyashree S Anagha N | Dr. Akila Prashant | 23/04/2025 | 6 months | 13/12/2025 | |
| 2 | Evaluation of the association between ANKRD30A and breast cancer | Deepthi Lakshitha V J | Dr. Praveen Kiumar K.S. | 23/04/2025 | 6 months | 13/12/2025 | |
| 3 | Utility of next-generation sequencing for elucidating nuclear DNA-encoded mitochondrial disorders. | Mithila Gangamma PP | Dr. Prince Jacob | 23/04/2025 | 6 months | 13/12/2025 | |
| 4 | Investigating the molecular etiologies of nuclear DNA encoded mitochondrial disorders using whole exome sequencing | Adithya Urs | Dr. Prince Jacob | 23/04/2025 | 6 months | 13/12/2025 | |
| 5 | Gene expression studies to identifymiRNAs in elderly with and without Sarcopenia using bioinformatic tools | Rhea Anand Mansi Kashyap | Dr. Kusuma | 23/04/2025 | 6 months | 13/12/2025 | |
| 6 | To present the genetic factors responsible for Phenytoin and Levetiracetam drug resistance in epilepsy patients in Mysuru | Pruthvi MV, Aysha Nafiya | Dr. Arshia Angural | 23/04/2025 | 6 months | 13/12/2025 | |
| 7 | Genetics Insights into Thyroid Peroxidase (TPO) Polymorphisms: Correlation with Anti-TPO Antibodies and BMI Young Adults. | Medha, Suchitha.S, Vaishnavi.K | Dr. Shobha C.R | 23/04/2025 | 6 months | 13/12/2025 |
| Sl No | Title of the project | PI | Guide | Funding agency | Date of sanction | Amount sanctioned | Duration | Date of Completion |
|---|---|---|---|---|---|---|---|---|
| 1 | Frequency analysis of rs11886868 and rs766432 single nucleotide polymorphisms in the BCL11A gene among beta thalassemia patients | Priyadharshini D | Dr. Akila Prashant | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 2 | Frequency analysis of rs4671393 and rs766432 single nucleotide polymorphisms in the BCL11A gene among beta thalassemia patients | Tejaswini Lokesh | Dr. Akila Prashant | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 3 | The impact of FOXA2 on early development and its association with recurrent pregnancy loss. | Jehan Meraj Khan | Dr Praveen Kumar K S | JSSHAER | 13/01/2025 | 25000/- | 6 months | 13/07/2025 |
| 4 | The impact of FOXD1 on early development and its association with recurrent pregnancy loss. | Mohana Kumari | Dr Praveen Kumar K S | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 5 | Elucidating the genomic basis of epilepsy-related monogenic diseases. | Likhitha S | Dr. Prince Jacob | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 6 | Genomic Profiling of seizures relaed diseases | Shruthi Rudramurthy | Dr. Prince Jacob | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 7 | Investigating the correlation between the influence of erythropoietic stimulators on hepcidin expression and serological indicators of iron overload among beta thalassemia patients” | Aysha Hisha | Dr. Jyothi M N | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 8 | Expression Profiling of Transcriptional Modulators of Hepcidin in Beta-thalassemia - Pilot study | Sana Salam | Dr. Jyothi M N | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 9 | “Unlocking the Secrets of Muscle Degeneration: Exploring miRNA-21's Role and Blood Biomarkers in Sarcopenia Through Gene Expression and qPCR Validation in the Elderly” | Yarlagadda Gnana Yamini | Dr. Kusuma KS | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 10 | “Investigating miRNA-203a-3p in Severe Sarcopenia: Gene Expression Studies and qPCR-Based Validation to Identify Blood Biomarkers in the Elderly.” | Sowmya. A | Dr. Kusuma KS | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 11 | Exploring the Relationship between TPO Gene Polymorphism, TSH Levels, and Anthropometric Measurements in Young Adults | Manoj A S | Dr. Shobha C R | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 12 | Investigating the role of LHCGR gene variant in ovarian steroidogenesis in South Indian PCOS Patients | Monisha G | Dr Arshia Angural | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 13 | Screening of steroidogenesis related CYP19A1 candidate gene variants in PCOS patients from South India | Thrimurthy B Shivanigi | Dr Arshia Angura | JSSAHER | 13/01/2025 | 25000/- | 6 months | 14/07/2025 |
| 14 | The Impact of PNPLA3 Variant on Non - Alcoholic Fatty Liver Disease: An analysis From a Tertiary care hospital | Ananya G | Dr. Praveen Kumar K S | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 15 | Evaluation of GCKR Gene Expression: Insights into its role in NAFLD Pathogenesis. | Jeevitha K P | Dr. Praveen Kumar K S | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 16 | Understanding the genetic variants associated with TM6SF2 gene expression of NAFLD | Anusha S K | Dr. Praveen Kumar K S | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 17 | Investigating molecular etiologies of Inborn errors of metabolism- Extension of study | Keerthana Kumari S | Dr Prince Jacob | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 18 | Genetic elucidation of metabolic disorders – Extension of study | Rachanashree S | Dr Prince Jacob | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 19 | “Investigating the role of PK4C9 mediated SMN upregulation in regulating acetylcholinesterase levels in drosophila melanogaster models of SMA” | Ms. Arya M C | Dr. Akila Prashant | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 20 | Investigating the role of PK4C9 mediated SMN upregulation in regulating NMJ function in drosophila melanogaster models of SMA” | Ms. Ruchitha N Prasad | Dr. Akila Prashant | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 21 | "Unraveling the impact of APC gene mutations on colorectal carcinoma initiation and progression" | Ms. Sharvani V | Dr. Akila Prashant | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 22 | "Targeting Notch Signalling: A key pathway in the development of Colorectal cancer" | Ms. Thejaswini M N | Dr. Akila Prashant | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 23 | To determine the allele and genotype frequencies of INSR variants in PCOS-affecte individuals and controls.” | Mr. Goutham S V | Dr. Arshia Angural | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 24 | “To determine the allele and genotype frequencies of CYP17A1 variants in PCOS-affected individuals and controls.” | Ms. Sahana S R | Dr. Arshia Angural | JSSAHER | 14/03/2025 | 25000/- | 6 months | 14/08/2025 |
| 25. | Utilization of next-generation sequencing for the elucidation of monogenic causes of neurodevelopmental diseases | Mr Amogh T | Dr Prince Jacob | JSSAHER | 12/02/2024 | 25,000 | 6 months | 12/08/2024 |
| 26. | Genomic profiling of Neurodevelopmental diseases using exome sequencing | Ms Mannah Achu Alex | Dr Prince Jacob | JSSAHER | 12/02/2024 | 25,000 | 6 months | 12/08/2024 |
| 27 | Association of Genetic Variations in Recurrent Pregnancy Loss in tertiary care hospital-based study: Pilot study | Mr Junjunuri Jyothi Kiran | Dr. Praveen Kumar K.S. | JSS-AHER | RG240004 - 03/01/2024 | 25,000 | 6 months | 12/08/2024 |
| 28 | Association of genetic variations in Recurrent Pregnancy Loss In southern Karnataka population: A tertiary care Hospital Based study | Ms K V Pallavi | Dr. Praveen Kumar K.S. | JSS-AHER | RG240001 - 02/01/2024 | 25,000 | 6 months | 12/08/2024 |
| 29 | "Genetic Variability in PPARG gene (rs1801282) and its association with anthropometric traits in study populations." | Ms. Cylvia Alphones, | Dr.Shobha C R, | JSS-AHER | RG-240014 Dated 04-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 30 | "Dissecting the genetic association of SCN1A variation with Levetiracetam drug response in epilepsy patients from Mysuru" | Mr.Deepak R, | Dr.Arshia Angural | JSS-AHER | RG-240020 Dated 05-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 31 | "Defining the role of small molecule intervenors for efficient iron management in beta thalassemia" | Ms.Chandana HB | Dr.Jyothi M N | JSS-AHER | RG-240006 Dated 03-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 32 | "Genetic Deletion Patterns of SERFt/H4F5 (C212marker) Genes in Spinal Muscular Atrophy: A Comprehensive Study" | Mrs.Deepashree TS | Dr.Akila Prashant | JSS-AHER | RG-230173 Dated 30-12-2023 | 25,000 | 6 months | 12/08/2024 |
| 33 | "Identification and characterization of small molecule inducers of hepcidin expression in thalassemia" | Ms. G Nishitha Mouli | Dr.Jyothi MN | JSS-AHER | RG-240007 Dated 03-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 34 | "Genetic Deletion Patterns of NAIP Genes in Spinal Muscular Atrophy; A Comprehensive Study" | Ms Parinitha SS | Dr.Akila Prashant | JSS-AHER | RG-230174 Dated 30-12-2023 | 25,000 | 6 months | 12/08/2024 |
| 35 | "Elucidating the genetic association of MDR1 variants with variable Phenytoin drug response in epilepsy patients from Mysuru" | Ms.ShravaniC | Dr.Arshia Angural | JSS-AHER | RG-240003 Dated 03-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 36 | " Role of G9a activity in myogenic differentiation inhibition under inflammatory conditions" | Mr.Sudhir Kumar B, | Dr. Praveen Kumar K.S. | JSS-AHER | RG-230168 Dated 27-12-2023 | 25,000 | 6 months | 12/08/2024 |
| 37 | "Exploring PPARG gene polymorphism(rs3856806) in young adults: Obesity association and links to Vitamin D levels." | Mr. Raveen N Gowda | Dr. Praveen Kumar K.S. | JSS-AHER | RG-240014 Dated 04-01-2024 | 25,000 | 6 months | 12/08/2024 |
| 38 | " Analysis of G9a protein expression and its stability in myotubes under inflammatory conditions" | Ms. VanishreeK | Dr. Praveen Kumar K.S. | JSS-AHER | RG-230167 Dated 27-12-2023 | 25,000 | 6 months | 12/08/2024 |
| 39 | "Genetic screening of CYP2C9 gene variants to find out their association with Phenytoin drug response in Epilepsy patients belonging to Karnataka" | Ms,Bhavana B | Dr. Praveen Kumar K.S. | JSS-AHER | RG230172 Dated 29-12-2023 | 25,000 | 6 months | 12/08/2024 |
| 40 | Exploring the role of miRNAs in beta thalassemia | Lakshmi V, Ritika V Shende, Sruthi KP | Dr. Jyothi MN | JSS AHER |
| Sl. No. | Title of the project | PI | Guide | Funding agency | Amount sanctioned | Duration |
|---|---|---|---|---|---|---|
| 1. | Investigating Hepcidin Gene Polymorphisms among Iron overloaded recurrently transfused pediatric β-Thalassemia Major Patients | Sohan Rodrigues and Shradha | Dr. Jyothi MN | JSS AHER | 25,000/- | 6 months |
| 2. | Role of Curcumin on TLR4 pathway in chronic otitis media: A molecular genetic approach | Chaithra D S and Chinmayan S | Dr. Jagadisha T V | JSS AHER | 25,000/- | 6 months |
| Sl No | Title of the project | PI | Guide | Funding agency | Date of sanction | Amount sanctioned | Duration | Remark |
|---|---|---|---|---|---|---|---|---|
| 1 |
Special Interest Group in Translational Research in Reproductive Genetics (SIG-TRRG) |
Dr. Praveen Kumar K.S. | - | JSS AHER |
08/11/2024 |
3,00,000/- | 3 years | One review article published as a part of SIG-TRRG. Further, conducting clinical posting presentations for both B.Sc., and M.Sc., students as academic norm. |
| 2 | Special Interest Group- Next Generation Sequencing Data Analysis for Monogenic Diseases | Dr Prince Jacob | - | JSS AHER | 15/10/2024 | 3,00,000 | 3 years | Three meetings conducted (two online guest lectures and one logo design competition) as a part of SIG. Additionally, every second Monday of the month a special clinical presentation is conducted with Dr SJ Patil for students |
| Sl No | Collaboration with Institution name | Area | Objectives | Outcomes (any projects/ publications) | Financial details | MOU/MOA | Remarks |
|---|---|---|---|---|---|---|---|
| 1 | National University of Singapore | Cancer Cachexia | To decipher the molecular mechanism underlying muscle loss in cancer patients | SERB-CRG | 50 Lakhs | Research Collaboration | |
| 2 | Indian Institute of Science | Cancer and Diabetes | Research and academic collaboration | Ongoing | NIL | MOU signed | - |
| 3 | WIPRO Limited | Rare genetic diseaases | NABL accreditation scope extension | Fifteen samples will be sent to WIPRO for exome sequencing. It will help mutually in extending the scope of our diagnostic services with inclusion of NGS data analysis as one of the tests in our Medical Genetics laboratory. | Each sample would cost approximately 15,000 INR. It would be beared by WIPRO | MOU signed | |
| 4 | Syngene International Limited, Bangalore | Cancer | Research and academic collaboration | Ongoing | Ongoing | MOU signed | Research Collaboration |
| # | Name of the PhD Scholar | Registration No | Professional Qualification | Department | Research Supervisor Name |
|---|---|---|---|---|---|
| 1 | Ms. S R Sahana | 261101701006 | M.Sc. | Medical Genetics | Dr Suvilesh K N |
| 2 | Ms. Shruthi R | 261101701007 | M.Sc. | Medical Genetics | Dr Suvilesh K N |
| 3 | Ms. Sindhu M | 260401701003 | M.Sc. | Medical Genetics | Dr Jagadisha T. V. |
| 4 | Ms. Naidu M Swati Krishnaswami | 25PBM029 | M.Sc. | Medical Genetics | Dr Praveen Kumar K. S. |