Assoc. Prof. Dr. Priyanshu Mathur , SMS Medical College, Jaipur , India
Dr. Priyanshu Mathur is an esteemed expert in Pediatric Medicine and Genetics, serving as an Associate Professor at SMS Medical College, Jaipur, India. He is renowned for his pioneering work in rare diseases, neurometabolism, and newborn screening. With a robust academic background, Dr. Mathur holds an MD in Pediatrics, a PhD in Genetics (Honorary), and specialized training in clinical biochemical genetics and neurometabolism. He is actively involved in clinical research and education, focusing on inborn errors of metabolism and rare genetic disorders. Dr. Mathur’s leadership extends to founding India’s first Rare Diseases Registry and establishing a newborn screening lab. He has significantly impacted both clinical practice and academic spheres in India and abroad. He is an active member of various international networks and has contributed extensively to medical research and education, solidifying his position as a thought leader in pediatric genetics and rare diseases.
Publication Profile:
Scopus
Strengths for the Award:
Dr. Priyanshu Mathur exhibits a profound commitment to advancing pediatric medicine, particularly in the fields of genetics, neurometabolism, and rare diseases. His extensive academic and clinical contributions make him an exceptional candidate for the Best Researcher Award. Below are the key strengths that highlight his qualifications:
- Educational Excellence:
- Dr. Mathur’s advanced qualifications, including a Masters in Neurometabolism & Cell Biology from the University of Barcelona and a Fellowship in Clinical Biochemical Genetics & Newborn Screening in the USA, underscore his expertise in rare metabolic disorders and genetic diseases.
- His honorary PhD in Genetics further exemplifies his contributions to genetic research and medicine.
- Research and Clinical Leadership:
- He has been instrumental in establishing the first Indian Rare Diseases Registry, which has provided valuable insights into rare disease prevalence in India (www.rarediseasesregistryindia.com).
- His work in newborn screening and biochemical genetics, including his leadership in starting the NBS lab at J K Lone hospital, Jaipur, demonstrates a significant impact on early detection and management of genetic disorders.
- His role as a Principal Investigator (PI) in DBT and ICMR-approved research projects highlights his ability to lead national-level research initiatives.
- Publication Record and Recognition:
- Dr. Mathur has contributed extensively to the scientific literature, with numerous original articles and case reports, often focusing on rare diseases, pediatric genetics, and metabolic disorders.
- His published works, along with his contributions to textbooks such as Rare Diseases in Pediatrics, exemplify his thought leadership.
- He is also actively involved in peer review, further demonstrating his academic credibility.
- Clinical and Teaching Experience:
- With years of experience as an Associate Professor at SMS Medical College and as a consultant at J K Lone Hospital, Dr. Mathur has shown excellence in clinical practice and teaching.
- He is deeply involved in mentoring postgraduate students, guiding them in the fields of genetics and pediatrics, and helping shape the next generation of medical professionals.
- National and International Impact:
- Dr. Mathur’s expertise is internationally recognized, with participation as a speaker and panelist at various international summits, including NBS Virtual Summit and Emory University sessions.
- His role as a national faculty member for IAP programs and his advisory positions with organizations such as the Rare Disease India Foundation further underscore his leadership.
Areas for Improvement:
- Expansion of Research Focus:
- Although Dr. Mathur has made immense contributions in metabolic genetics and rare diseases, there is potential for further exploration into emerging areas such as gene therapy, CRISPR-based technologies, and personalized medicine.
- Collaborating with multidisciplinary teams to explore integrative approaches to pediatric genetic disorders could enrich his research portfolio.
- Further International Collaboration:
- Increasing international collaborations, particularly in the context of clinical trials and large-scale multicenter studies, could significantly enhance the global impact of his work. This could provide broader insights and validation of his findings across diverse populations.
- Public Outreach and Advocacy:
- While his contributions to academia are remarkable, further emphasis on public outreach programs to raise awareness about rare diseases and genetic conditions could increase their visibility in India and beyond.
- Engaging with patient advocacy groups could help bridge the gap between research and patient care.
Education:
Dr. Priyanshu Mathur’s educational journey showcases a deep commitment to advancing knowledge in pediatric medicine and genetics. He earned his MBBS in 2005 from Vijayanagar Institute of Medical Sciences, Bellary, Karnataka, India, where he secured the first rank. He completed his MD in Pediatrics in 2010 from Dr. S. N. Medical College, Jodhpur, Rajasthan, India. His academic pursuits include a Masters in Neurometabolism & Cell Biology for Clinicians from the University of Barcelona, Spain (2022-2024). Dr. Mathur also underwent a Fellowship in Metabolic Genetics and Newborn Screening in Atlanta, USA (2018-2019), strengthening his expertise in the diagnosis and management of genetic disorders. His honorary PhD in Genetics from IIU in 2021 further bolstered his academic stature. His education equips him with an exceptional foundation in clinical genetics, pediatrics, and research, allowing him to contribute meaningfully to the field of medical science.
Experience:
Dr. Priyanshu Mathur’s professional experience spans over a decade, making him a leader in pediatric medicine and genetics. He is currently an Associate Professor at SMS Medical College, Jaipur, where he teaches and mentors future medical professionals. Dr. Mathur’s clinical expertise is evident in his role at J K Lone Hospital, Jaipur, where he oversees the Rare Diseases Clinic and newborn screening services. His experience extends internationally, having worked as a visiting assistant professor in clinical biochemical genetics and newborn screening in Atlanta, USA. He is deeply involved in clinical research, particularly in the field of genetic disorders and rare diseases, and has contributed to several national and international research projects. Dr. Mathur’s teaching roles include guiding postgraduate students and being a faculty member for various national courses and workshops. His work in establishing the first Indian Rare Diseases Registry and newborn screening lab has had a transformative impact on Indian healthcare.
Awards and Honors:
Dr. Priyanshu Mathur has earned multiple prestigious awards throughout his career, recognizing his dedication to research, teaching, and clinical excellence. In 2021, he received an Honorary Doctorate (PhD) in Genetics from IIU for his outstanding contributions to genetics and pediatric medicine. He was awarded a Fellowship in Clinical Biochemical Genetics & Newborn Screening in 2019, marking his specialization in metabolic genetics. In the same year, he received the Outstanding Faculty Award from the Principal of SMS Medical College, Jaipur, for his exceptional contributions to education. Dr. Mathur was also honored with the “Dakshata Praman Patra” at SMS Medical College, Jaipur, in 2016. Earlier in his career, he won the Silver Medal for paper presentation at a State Pediatric Conference in 2009 and was recognized as the Best Outgoing Student at VIMS, Bellary, in 2005. His awards reflect his commitment to advancing medical science and improving healthcare delivery.
Research Focus:
Dr. Priyanshu Mathur’s research primarily focuses on rare diseases, metabolic disorders, and inborn errors of metabolism. He has significantly contributed to the establishment of India’s first Rare Diseases Registry, which provides crucial insights into the prevalence and management of rare genetic conditions in the Indian population. His work in neurometabolism and newborn screening has been groundbreaking, particularly in identifying genetic disorders early and enabling early interventions. Dr. Mathur’s research has expanded the understanding of metabolic genetic diseases and their clinical management, making a considerable impact on patient care. He has also been involved in various clinical trials to evaluate the safety and efficacy of treatments for rare diseases such as Duchenne Muscular Dystrophy and Fabry Disease. His research is not only aimed at better clinical outcomes but also at educating the medical community and raising awareness about rare and inherited disorders. His work continues to shape the landscape of pediatric genetics in India.
Publications Top Notes:
- Prevalence of obesity and overweight in private schools of Jaipur city in 11-17 year age group children 📊
- Correlation study of various factors with germinal matrix intraventricular hemorrhage in preterm neonates 👶
- Evaluation of nutritional & educational intervention as KAP and outcome of children with SAM in malnutrition treatment center 🍽️
- Chloroquine vs co-artemether in uncomplicated malaria 🦠
- Comparison of risk factors and early morbidity in late preterm neonates and term neonates ⚖️
- Prevalence of impaired glucose tolerance test and diabetes in overweight, obese and apparently healthy adolescents 🏫
- Prevalence of overweight and obesity amongst adolescents and identification of risk factors 🍔
- Assessment of parents and child’s attitude as barrier to dietary compliance in celiac disease 🍞
- Study on clinical presentations, risk factors and short term outcome of hemorrhagic disease of newborn 🩸
- Epidemiological study of HIV-AIDS in children of western Rajasthan 🌍
Conclusion:
Dr. Priyanshu Mathur’s dedication to advancing pediatric medicine through groundbreaking research in genetics and rare diseases, along with his leadership in newborn screening and education, positions him as an exemplary candidate for the Best Researcher Award. His clinical expertise, substantial publication record, and impact on both national and international healthcare systems demonstrate that he is not only a skilled researcher but also a pioneering figure in improving the lives of children affected by genetic and metabolic disorders. With continued expansion into new areas of research and further global collaborations, Dr. Mathur can continue to make an even greater impact on pediatric healthcare worldwide.