Dr Shruti Pande
BDS, PhD (Medical Genetics)
Profile
Medical geneticist
Dr Shruti Pande
BDS, PhD
Greetings, dear readers! A warm welcome to my personal blog!
The journey of my doctoral training introduced me to this vast, intriguing and evolving area of medical genetics encompassing the world of rare diseases, birth defects and genetic disorders. With the introduction of human genome sequencing to the implication of the cutting edge techniques to diagnose these clinical entities, the paradigm shifted from being undiagnosable and untreatable to molecularly diagnosable, thereby ending the diagnostic odyssey faced by the affected families and even treatable or manageable. The science is rapidly evolving with emerging improved sequencing methods, excellent bioinformatics applications, better tools to analyze the genome, new disease and gene discoveries, availability of improved in silico, in vitro and in vivo disease modelling facilities and ultimately providing an answer to the affected families.
Here in this blog, I would like to share some of the family stories, discoveries, outstanding research outputs and the emerging therapeutics.
Lets explore this fascinating journey together!!
Resume
Resume
Education
Manipal Academy of Higher Education, Manipal
PhD (Medical Genetics)
2019-2023
Embarking on a journey in pursuit of a Ph.D. in Medical Genetics with a focus on rare genetic disorders is a testament to my passion for unraveling the intricacies of the human genome. In this dynamic and ever-evolving field, I am driven by the profound impact that understanding rare genetic disorders can have on individuals and families facing these challenges. My research endeavors are dedicated to advancing knowledge in medical genetics, particularly honing in on the rarest and most elusive genetic anomalies. Through rigorous academic inquiry and hands-on laboratory experiences, I am committed to contributing valuable insights that may pave the way for innovative diagnostic approaches, therapeutic interventions, and ultimately, improved patient outcomes. My personal website serves as a digital canvas, showcasing the milestones of this academic odyssey and the profound societal implications of unraveling the mysteries encoded within our DNA. Join me on this transformative journey as we explore the frontiers of medical genetics, seeking to make a tangible difference in the lives of those affected by rare genetic disorders.
Manipal Academy of Higher Education
Certificate course in Biostatistics, Epidemiology and Research Methodology
03.2020
- Gain a comprehensive understanding of Biostatistics, Epidemiology, and Research Methodology through our rigorous Certificate course, equipping you with essential skills for analyzing health data and conducting impactful research.
- Enhance your expertise in Biostatistics, Epidemiology, and Research Methodology with our specialized Certificate course, providing practical knowledge and tools to make informed decisions and contribute to evidence-based public health practices.
Datta Meghe Institute of Higher Education and Research
Bachelor of Dental Surgery (BDS)
2013-2018
I have done my Bachelors in Dentisty.
Employment
Manipal Academy of Higher Education, Manipal
Junior Research Fellow
2018-2019
As a professional in the field of DNA sequencing and laboratory management, my expertise encompasses a range of crucial responsibilities. These include Illumina DNA library preparation, managing sample inventory, tracking, and library planning. I also coordinate laboratory activities within my team, ensuring smooth operations. Additionally, I perform qualitative and quantitative analysis of nucleic acid using advanced instruments such as Nanodrop and Qubit. I excel in library preparation using the Illumina DNA PCR free protocol, employing both manual and automated processes with the Tecan freedom evo and Opentrons OT-2 systems. Furthermore, I am proficient in setting up and maintaining the NovaSeq 6000 sequencer, handling reagent cartridges and flowcells, and loading samples for sequencing. I also conduct thorough qualitative and quantitative analysis of the generated sequence data. Finally, I contribute to sample sheet preparation and collaborate with the bioinformatics team for seamless data analysis and interpretation.
My Skills
Medical Genetics
Language Skills
Research Publications
Research
, 2023. Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.  FASEB J 37(8):e23116
, 2023. Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.  Am J Med Genet A 191(8):2175-2180
, 2023. Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.  J Pediatr Genet 12(1):58-63
, 2022. The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.  Aging Cell 21(11):e13688
, 2021. Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.  Eur J Hum Genet 29(12):1774-1780
, 2021. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.  Am J Med Genet A 185(9):2756-2765
, 2021. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.  Transl Psychiatry 11(1):1
, 2020. Trichothiodystrophy type 4 in an Indian family.  Am J Med Genet A 182(10):2226-2229
, 2020. Untapped opportunities for rare disease gene discovery in India.  Am J Med Genet A 182(12):3056-3059
Publication list retrieved from NCBI using ImpactPubs
.Other Things That I Do
Other Things That I Do
Photography
I am an amateur photographer who loves capturing nature.
Medical Blogging
I love writing microblogs on how medical science evolves and revolves around us.
Contacts
Contacts
Let’s Keep In Touch
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