Research
The department encompasses research groups focusing on diagnosis, prevention and therapy for various genetic and metabolic disorders, cancer epigenetics, Sepsis etc.
Dr. Akila Prashant
I am a passionate researcher and educator in the field of medical genetics and genomics. My research is driven to unravel the mysteries of molecular biology and genetics, particularly in the context of rare disorders. At present, I am a part of a significant multicentric project titled "National Registry for Rare and Other Inherited Disorders," which promises to expand our knowledge in this critical area. I am actively involved in research aimed at developing affordable diagnostic tests for neurodegenerative disorders like Spinal Muscular Atrophy and Duchenne Muscular Dystrophy. Also, I am currently engaged in exploring therapeutic approaches using advanced computational and in vivo models for the above mentioned disorders. Further, I conduct population-based screenings to detect treatable metabolic errors and understand the prevalence of these disorders in our communities. I am not only a researcher but also a mentor, having organized numerous national workshops and trained aspiring researchers. My vision is to continue pushing the boundaries of medical genetics and genomics, making a lasting impact on healthcare and genetics research.
Areas of interest :Rare diseases, treatable metabolic disorders, neurodegenerative disorders, newborn screening
Dr. Vinay Kumar M B
Skeletal muscle is the most abundant tissue in the human body and disruption in its homeostasis cause severe complications. The long term research interest of my lab is to understand the molecular basis of skeletal muscle loss in chronic diseases and to identify new drug targets to treat muscle wasting. The current focus of our lab is to decipher the epigenetic mechanisms that regulate transcriptional program of skeletal muscle differentiation and how its de-regulation is involved in skeletal muscle pathogenesis. Specific areas of interest include the epigenetic basis of skeletal muscle wasting in Cancer Cachexia, Diabetes Mellitus and differentiation inhibition in Rhabdomyosarcoma, a childhood cancer affecting skeletal muscle.
Dr. Prince Jacob
My primary research focus is on understanding the genomic and clinical spectrum of monogenic diseases, especially skeletal dysplasia in Indian population using exome sequencing and other NGS technologies. Additionally, I am interested in elucidating the molecular mechanisms underlying monogenic diseases by using biological model systems.
Areas of interest :Monogenic diseases, Skeletal dysplasia, Exome Sequencing, Genome sequencing
Dr. Praveen Kumar K S
Molecular genetics and medical genomic aspects of disease states, such as rare genetic and multifactorial disorders like type 2 diabetes mellitus, are the main areas of emphasis. The primary emphasis will be on candidate genes that require clinical attention and whose role in biochemical pathways is still unclear.
Medical genetics and prenatal diagnosis is the major health concern. Diagnosing the patient at molecular level using different disease panel to identify the genes involved in causing a disease and next generation sequencing platforms to have concrete basis at genetic level for its genetic alterations and abnormality.
Areas of interest :Cell Biology, Molecular Genetics, Genomics, Medical Genetics and Prenatal diagnosis
Dr. Jyothi
Focus area 1: Working on Iron management in beta thalassemia patients. Our research aims to develop targeted therapy for efficient management of iron overload in Beta-thalassemia. Our strategic approach is to revive the re-expression of hepcidin, the master regulator of iron homeostasis. With next generation sequencing, the differentially expressed transcriptional regulators of hepcidin synthesis are identified and targeted to relieve the suppression on hepcidin
Focus Area 2: Investigating the role of SOX transcription factors in therapeutic resistance in cancer prognosis. Understanding molecular mechanism of therapeutic resistance acquires the current need. Although, investigations on epigenetic events governing gene expression are increasing; epigenetic modulations leading to cancer therapeutic resistance is still to be explored. In this study, we project to define the epigenetic modulation of SOX transcription factors, and their involvement in development of therapeutic resistance in cervical cancer. Areas of interest Molecular Biology, Rare disorders, Epigenetics, Cell signalling cascade and Cancer biology
Areas of interest :Molecular Biology, Rare disorders, Epigenetics, Cell signalling cascade and Cancer biology
Dr. Arshia Angural
A researcher-cum-teacher, working as a Faculty in the Department of Medical Genetics, JSS Medical College, seeking to promote an environment of quality education and research, and motivate students for their better educational as well as social development. A biotechnologist with a Clinical Genetics research background and an ultimate objective of contributing towards the betterment of human society, my research work is focussed on
- Delineation and understanding the underpinning molecular factors and their pathophysiology responsible for precipitating human genetic diseases, especially rare diseases, using state-of-the art techniques including Sequencing and LC-MS/MS;
- Identification and characterization of pharmacogenetic factors driving patients variable response to certain therapeutic drugs and
- Translating the research findings into the development of cost-effective diagnostic as well as therapeutic interventional strategies for improving the public health.
Areas of interest :Clinical Genetics, Genetics of Rare Diseases especially Neurodegenerative Disorders, Pharmacogenetics, Genomics, Bioinformatics, Newborn Screening