Prince Jacob
Mysuru
Summary
I work as an Assistant Professor at Department of Medical Genetics, JSS Medical College, Mysore, India with a robust focus on uncovering the molecular etiology underlying rare monogenic disorders. My research work is focused on clinical and genomic profiling of monogenic diseases and identification of novel conditions with the underlying genetic cause using next generation sequencing technologies. With a strong publication record and a commitment to translational research, I aim to advance genomic medicine by bridging the gap between genetic discovery and clinical application. My vision is to leverage innovative research and interdisciplinary collaborations to transform patient care, particularly for rare diseases. I also bring a deep passion for teaching and mentoring, fostering the next generation of scientists in genetics and genomic medicine. My goal in near future is to further my skillset and broaden our knowledge of molecular mechanisms underlying genetic disorders.
Overview
8
8
years of professional experience
Work History
Assistant Professor
Department of Medical Genetics, JSS Medical College, and Hospital, JSS Academy of Higher Education and Research, Mysuru
02.2023 - Current
- Leading research in genomic profiling of rare monogenic diseases using Whole Exome Sequencing /Next Generation Sequencing.
- Interpreted and classified variants in >500 cases of monogenic diseases.
- Mentored students and collaborated with clinical teams on case resolution.
- Strong track record of working with clinician-scientists, radiologists, and computational biologists to address complex genetic conditions.
- Prepared high-quality clinical summaries and functional validation plans.
Junior Research Fellow (JRF)
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India
03.2017 - 07.2018
- Project title – Application of autozygosity mapping and exome sequencing to identify genetic basis of disorders of skeletal development Funding body – Department of Science and Technology, India
- Laboratory skills: Primer designing, PCR, Gap-PCR, RT-PCR and qPCR, Sanger sequencing, RNA purification and quantification, Fibroblast cell culture, and Western blotting.
- Performed scientific research on multiple projects.
- Mentored post graduate students through their research projects, fostering a supportive learning environment.
- Contributed to the publication of research articles by drafting sections and revising content for clarity.
- Authored professional scientific papers for publishing in peer-reviewed journals.
- Learned new laboratory techniques and applied expertise in carrying out enhanced experiments under supervision of senior lab members.
- Reviewed technical and professional publications and journals to stay current on recent literature and make more strategic research decisions.
Education
PhD - Genomic Profiling of Skeletal Dysplasia by Next Generation Sequencing
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education
02.2023
M.Sc. - Medical Biochemistry
Department of Biochemistry, Kasturba Medical College, Manipal, Manipal Academy of Higher Education
01.2016
B.Sc. - Biotechnology
Department of Biotechnology, Garden City College
01.2012
Skills
- Analytical skills: Exome and genome sequencing downstream analysis, variant prioritization and report preparation for monogenic diseases using guidelines of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP)
- Laboratory skills: Primer designing, PCR, Gap-PCR, RT-PCR and qPCR, Sanger sequencing, RNA purification and quantification, Fibroblast cell culture, and Western blotting
- Teaching and Mentorship: Proven experience in developing and delivering lectures, supervising students, and fostering a collaborative learning environment
- Interdisciplinary Collaboration: Strong track record of working with clinician-scientists, radiologists, and computational biologists to address complex genetic conditions
Accomplishments
- Received international travel support by Science and Engineering Research Board to attend American Society of Human Genetics Conference and presentation a poster on “Atypical clinical
spectrum in NDUFS2- related mitochondrial complex I deficiency” held at Washington D.C. from 1st – 5th November, 2023.
- Conference Fellowship for Non-European Countries by European society of Human Genetics to attend ESHG 2022 and present a poster on ‘Biallelic loss of function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3’ held at Vienna, Austria from 11th to 14th June 2022.
- Received intramural grant from JSS Academy of Higher Education and Research for forming a Special Interest Group on Next Generation Sequencing Data Analysis for Monogenic Diseases (NGSMD)
Affiliations
- Lifetime member of Society for Mitochondrial Research and Medicine (SMRM) -Reg no. LM/297/2024.
- Lifetime member of Society for Indian Society of Human Genetics (ISHG) -Reg no. L/2161/2024.
Timeline
Assistant Professor
Department of Medical Genetics, JSS Medical College, and Hospital, JSS Academy of Higher Education and Research, Mysuru
02.2023 - Current
Junior Research Fellow (JRF)
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India
03.2017 - 07.2018
B.Sc. - Biotechnology
Department of Biotechnology, Garden City College
PhD - Genomic Profiling of Skeletal Dysplasia by Next Generation Sequencing
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education
M.Sc. - Medical Biochemistry
Department of Biochemistry, Kasturba Medical College, Manipal, Manipal Academy of Higher Education
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