Genetidoc Genetic Clinic and DNA Testing Lab is proud to welcome Dr. Bhawana Aggarwal, DM Medical Genetics (AIIMS, New Delhi), MD Pediatrics, MBBS Gold Medallist — Clinical Geneticist at Yashoda Hospitals, Medicity and Kaushambi — to its panel of specialists.
Dr. Bhawana Aggarwal brings to Genetidoc one of the most accomplished academic and clinical profiles in the series — shaped almost entirely within AIIMS, New Delhi, where she trained, practised, researched, and ultimately taught. A Gold Medallist from Lady Hardinge Medical College and a batch-topper throughout her undergraduate years, she has spent her career at the highest levels of Indian medical genetics, and her joining adds a depth of rare disease expertise to the Genetidoc panel that is genuinely uncommon.
A Career Built at AIIMS — From Trainee to Faculty
There are doctors who trained at AIIMS. There are fewer who stayed — as Senior Residents, then as faculty, then as mentors to the next generation. Dr. Aggarwal is one of the latter.
After completing her MBBS at Lady Hardinge Medical College, Delhi — where she graduated as Gold Medallist and secured first position in her pre-final year — she went on to complete her MD in Pediatrics at the same institution, followed by a Senior Residency at AIIMS Paediatrics. She then pursued her DM in Medical Genetics at AIIMS under the direct mentorship of Professor Madhulika Kabra — one of India’s most eminent medical geneticists and a foundational figure in the development of clinical genetics in the country.
After completing her DM, she was appointed Assistant Professor in Paediatric Medical Genetics at AIIMS — teaching, mentoring junior and senior residents, conducting examinations, and contributing to the department’s clinical and academic output. She has since held consultant positions at Medgenome Laboratories and Lifecell Laboratories, and currently consults at Yashoda Hospitals, Medicity and Kaushambi.
This is the trajectory of a clinician who did not just pass through AIIMS — she helped build it, from the inside.
The DM Thesis That Went to Turin
Dr. Aggarwal’s DM dissertation was not a standard academic exercise. It was a prospective clinical study evaluating the trisaccharide BM-652 as a potential urinary biomarker in treatment-naive patients with Mucopolysaccharidosis Type I — one of the most severe lysosomal storage disorders, where early identification and enzyme replacement therapy can significantly alter the disease course.
The research was significant enough to be selected for oral presentation at the 10th UDNI Conference in Turin, Italy, in January 2022 — one of the leading international gatherings in the field of inherited metabolic diseases. This is not a common outcome for a DM thesis. It reflects both the quality of the work and the clinical importance of what it asked.
She also presented at the 13th Asia Pacific Conference on Human Genetics in Manila, Philippines, with two poster presentations — one on nuclear mitochondriopathies and one on NGS in adult-onset neurometabolic disorders — cementing her presence on the international research stage while still in training.
Publications That Name Conditions Most Doctors Have Never Seen
Dr. Aggarwal has authored and co-authored over 12 peer-reviewed publications and two book chapters. In a field where publications are common, what distinguishes hers is their specificity — she writes about conditions that most clinicians will never encounter, and she writes about them from direct clinical experience.
Her published work includes the first case report of Penttinen syndrome from India — a rare fibromatosis syndrome with fewer than 50 cases reported worldwide. She has published on Niemann-Pick disease Type C, Sengers syndrome, adult-onset citrullinaemia, Wolfram syndrome, lysosomal storage disorders, trichothiodystrophy, and familial hypercholesterolaemia — a range that reflects not just breadth of interest but a clinical environment, AIIMS, where the rarest of the rare regularly present.
Her two book chapters include a contribution to the Textbook of Child Health Nursing on genetic disorders, and a chapter on genetic counselling in neuromuscular disorders — reflecting a commitment to making genetics useful not just for specialists, but for the nurses and clinicians who encounter these patients first.
Award-Winning Research — Consistently
Dr. Aggarwal has won prizes at national genetics conferences with a consistency that speaks for itself. At the National Symposium on Genetic Diseases, Delhi 2022, she received first prize for her poster on the first Indian report of mesomelic dysplasia Savarirayan type, and third prize for her oral presentation on adult-onset Niemann-Pick disease Type C. In 2019, she won first prize in the Genetics Quiz at the ISIEM National Conference — the Indian Society for Inborn Errors of Metabolism, the specialist body for her core clinical interest.
She was also runner-up in the IAP Pediatric Quiz for Post Graduates and secured second place in AIIMS IGNITE — a record of competitive academic performance that runs from her school years through to her specialist training.
Areas of Specialisation
Lysosomal Storage Disorders and Inborn Errors of Metabolism Deep specialist expertise built through years of clinical and research work at AIIMS — covering Mucopolysaccharidoses, Niemann-Pick disease, Gaucher disease, Sengers syndrome, and the full spectrum of lysosomal and metabolic genetic disorders.
Neurogenetics and Neurometabolic Disorders Published research and international conference presentations in nuclear mitochondriopathies, adult-onset neurometabolic conditions, and hereditary neurological syndromes — with clinical depth that goes well beyond standard genetics training.
Skeletal Dysplasia and Rare Syndromic Conditions First Indian case reports of Penttinen syndrome and mesomelic dysplasia Savarirayan type — reflecting specialist-level experience in the rarest end of the rare disease spectrum.
Developmental Disorders and Paediatric Rare Diseases Diagnostic workup for developmental delay, intellectual disability, autism spectrum disorder, and congenital anomalies using chromosomal microarray and Next-Generation Sequencing.
Prenatal and Reproductive Genetics Counselling and diagnostic guidance for fetal anomalies, high-risk pregnancies, and preconception planning — anchored in AIIMS-level clinical standards.
Genomic Diagnostics and Variant Interpretation Trained at AIIMS in exome sequencing analysis and interpretation — translating complex genomic data into clear, actionable clinical guidance for patients and referring physicians.
Delhi — and Now Available Nationwide
Dr. Aggarwal is based in Delhi, currently consulting at Yashoda Hospitals, Medicity and Kaushambi — two of the National Capital Region’s busy multispecialty centres. Through Genetidoc, her expertise is now available online to families anywhere in India — without the need to navigate Delhi’s healthcare system or wait for a tertiary centre appointment.
For families dealing with lysosomal storage disorders, rare neurometabolic conditions, or complex paediatric syndromes, she brings a level of clinical experience that very few specialists in any city can offer. Through the platform, that experience is one appointment away.
About Genetidoc Genetic Clinic and DNA Testing Lab
Genetidoc is India’s largest network of online genetics specialists, founded by Dr. Roshan Daniel — Clinical Geneticist and Head of the Medical Genetics Department at KIMSHealth, Trivandrum. The platform connects patients and families across India with qualified genetics doctors for consultations, counselling, and DNA testing guidance — making expert genetic care accessible, affordable, and personal.
To book a consultation with Dr. Bhawana Aggarwal or any Genetidoc specialist, reach us on WhatsApp or visit genetidoc.com.
