DR. MAYURI YEOLE

MBBS, MD (Pediatrics), DM (Medical Genetics) Consultant Geneticist and Rare disease specialist

Dr. Mayuri Yeole is a Pediatrician and Clinical Geneticist with a distinguished academic record and a deep commitment to patient-centered genetic care. She completed her MD in Pediatrics from Jawaharlal Nehru Medical College (JNMC), Sawangi, Wardha, graduating as a Gold Medalist and receiving awards for Best Outgoing Student and Subject Topper in Pediatrics. Her early experiences caring for children and families inspired a lasting curiosity about the root causes of diseases a curiosity that led her to the field of Medical Genetics.

She pursued her DM in Medical Genetics from Kasturba Medical College and Hospital, Manipal, Karnataka one of India’s premier institutes, where she was honoured with the Young Researcher Award by the Manipal Academy of Medical Sciences. She holds the distinction of being the first clinical Geneticist in Central India bringing advanced expertise in the diagnosis and management of rare and inherited disorders to the region.

She has extensive knowledge and expertise in evaluating, diagnosing and treating a wide range of genetic and rare inherited disorders. Her clinical interests include reproductive genetics, neurodevelopmental and metabolic disorders, skeletal dysplasias, and hematological disorders. She has a special focus on interpreting complex genetic and genomic tests, and on helping families understand the significance of genetic findings in clear, compassionate terms.

Beyond her clinical practice, Dr. Yeole is deeply passionate about spreading awareness of genetics in everyday medicine. She believes that genetics is no longer the medicine of the future, but an essential part of healthcare today. Her expertise greatly enhances the accuracy of genetic diagnoses and helps guide individualized treatment strategies, counselling, and lifelong support for patients and their families. By empowering both clinicians and families with genetic knowledge, she aims to bridge the gap between scientific discovery and real-world patient care, ensuring that every diagnosis leads to understanding, and every family finds guidance and hope.

Her clinical expertise includes reproductive genetics, neurodevelopmental and metabolic disorders, skeletal dysplasias, and hematological disorders. In reproductive genetics, she provides preconception and prenatal counselling to help couples understand genetic risks and make informed reproductive choices. Her work in neurodevelopmental and metabolic disorders focuses on early diagnosis and comprehensive care for children with developmental delays or metabolic abnormalities. She also has significant experience in evaluating and managing skeletal dysplasias and inherited blood disorders such as sickle cell anemia, thalassaemia and haemophilia, ensuring that each patient receives personalized, evidence-based recommendations for care and long-term support.

In addition to his clinical expertise, Dr Yeole is a recognized researcher and educator. She has received multiple prestigious awards, including the Young Researcher Award from Manipal Academy of Higher Education, and has published groundbreaking research in leading journals.

HER EXPERTISE IN THE FIELD OF GENETICS:

• Years of Experience: 5+
• Genome data analysis and interpretation: 500+
• Number of families helped: 350+

WORK EXPERIENCE:

• Senior Resident, Pediatric intensive care unit, Narayana Hrudayalaya, Bengaluru, Karnataka
• Assistant professor, Jawaharlal Nehru Medical College, Sawangi, Wardha,
• Junior consultant, Department of Pediatrics, Apollo Hospitals, Nashik, Maharashtra
• Consultant, Department of Pediatrics, Apollo Hospitals, Bengaluru, Karnataka
• Consultant Geneticist, Novagen Genetics Clinic, Nagpur, Maharashtra

EDUCATION AND TRAINING:

• MBBS, Maharashtra University of Health Sciences (MUHS), Nashik (2004)
• MD (Pediatrics) (2013) (Gold Medal)
• DM Medical Genetics (2025)

AREAS OF EXPERTISE:

• Reproductive Genetics
• Prenatal Genetics
• Neuromuscular and neurogenetic disorders
• Metabolic disorders
• Skeletal dysplasia
• Thalassaemia, haemophilia and other blood disorders
• Cancer Genetics

AWARDS & ACCOMPLISHMENTS:

• Dr SS Agarwal Young Scientist Award 2025, 10th Annual conference of Society of Indian Academy of Genetics, Pune
• Young Researcher Award, MAHE Inter-health Sciences Postgraduate Research Conference, Manipal Quest 1.0, 2024
• Best Outgoing student and Gold Medalist in Pediatrics, Department of Pediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences. (2013)

MEMBERSHIPS:

• Indian Medical Association (IMA)
• Indian Academy Paediatrics (IAP)
• Society of Mitochondrial Research and Medicine (SMRM)
• Society of Indian Academy of Medical Genetics (SIAMG)

Conferences and presentations

• A novel hemizygous stop gain variant in GPC4 causes distinct dysmorphic Keipert syndrome – Oral presentation. European Society of Human Genetics Conference, 2024, Berlin, Germany
• A biallelic variant, c.1139T>G, in DAP3 is associated with encephalopathy, liver failure, lactic acidosis, and early infantile death - European Society of Human Genetics Conference, 2024, Berlin, Germany
• Report of a novel bi-allelic variant in BRCA1 causing chromosomal instability syndrome – 7th Manipal Genetic Update, 2024, Manipal, Karnataka
• Further validation of association of bi-allelic variants in SLC25A10 with developmental and epileptic encephalopathy – American Society of Human Genetics 75th Annual Meeting, 2023, Washingtion DC
• Report of a novel bi-allelic variant in MRPS2 causing combined oxidative phosphorylation deficiency 36 - Mitochondria in Biology and Medicine, 2023, Hyderabad
• Conquering the disability – Breastfeeding in children with cleft lip and palate. 2012, National Childhood Disability Conference, Nagpur
• Pharmaco-prophylaxis in patients with sickle cell anemia. 2010, APPICON, Nagpur

Publications

• Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome. American journal of medical genetics. Part A, e63892. Yeole, M., Majethia, P., Siddiqui, S., Girisha, K. M., Shukla, A., Radhakrishnan, P., & Bhat, V. (2024).
• Kandettu, A., Yeole, M., Sekar, H. et al. Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish. Eur J Hum Genet (2025).
• Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder. Clinical genetics, 10.1111/cge.14663. Radhakrishnan, P., Quadri, N., Erger, F., Fuhrmann, N., Geist, O. M., Netzer, C., Khyriem, I., Muranjan, M., Udani, V., Yeole, M., Mascarenhas, S., Limaye, S., Siddiqui, S., Upadhyai, P., & Shukla, A. (2024).
• Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype. American journal of human genetics, S0002-9297(24)00416-6. Smith, T. B., Kopajtich, R., Demain, L. A. M., Rea, A., Thomas, H. B., Schiff, M., Beetz, C., Joss, S., Conway, G. S., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R. I. C., Thompson, K., Oláhová, M., He, L., Jenkinson, E. M., … Newman, W. G. (2024).
• Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature. Clinical dysmorphology, 33(4), 160–166. Mascarenhas, S., Yeole, M., Rao, L. P., do Rosario, M. C., Majethia, P., Nair, K. V., Sharma, S., Barala, P. K., Puri, R. D., Pal, S., Siddiqui, S., & Shukla, A. (2024).
• Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications. Clinical genetics, 105(6), 639–654. Majethia, P., Kaur, N., Mascarenhas, S., Rao, L. P., Pande, S., Narayanan, D. L., Bhat, V., Nayak, S. S., Nair, K. V., Prasannakumar, A. P., Chaurasia, A., Hunakunti, B., Jadhav, N., Farooqui, S., Yeole, M., Kothiwale, V., Naik, R., Bhat, V., Aroor, S., Lewis, L., … Shukla, A. (2024).
• Pan opthalmitis – A rare yet preventable complication of dengue infection. Indian journal of practical pediatrics 2021; 23(3):316. Yeole M, Dev H, Nagaraju R.
• Multiple hard swellings. Pediatriconcall; Oct 2011; 8(10); Article no. 67 Damke S, Yeole M, Swarnakar K, Balpande D.
• Risk factors of acute respiratory infection (ARI) in under-fives in a rural hospital of central India. Journal Of Pediatric And Neonatal Individualized Medicine 2016; 5(1): e050105. Taksande A, Yeole M.