Dr. Bhawana Aggarwal

About Dr. Bhawana Aggarwal

Dr. Bhawana Aggarwal is a Clinical Geneticist and Pediatrician with a career built almost entirely within AIIMS, New Delhi — one of India's foremost medical institutions — from her DM training under the mentorship of Professor Madhulika Kabra, through her Senior Residency in Paediatrics, to her appointment as Assistant Professor in Paediatric Medical Genetics at AIIMS. She graduated as a Gold Medallist in MBBS from Lady Hardinge Medical College, Delhi, and was a batch-topper throughout her undergraduate years — a foundation that set the tone for an academic and clinical career of exceptional depth. Her DM dissertation — a study evaluating the trisaccharide BM-652 as a potential biomarker in urine of treatment-naive patients with Mucopolysaccharidosis Type I — was presented as an oral paper at the 10th UDNI Conference in Turin, Italy in 2022, reflecting the research significance of work she conducted during her training. She has since authored and co-authored over 12 peer-reviewed publications and two book chapters, spanning lysosomal storage disorders, neurometabolic conditions, skeletal dysplasias, and rare genetic syndromes — including the first report from India of Penttinen syndrome. She currently consults at Yashoda Hospitals, Medicity and Kaushambi, and has previously held consultant positions at Medgenome Laboratories and Lifecell Laboratories.

Areas of Expertise

Lysosomal Storage Disorders and Inborn Errors of Metabolism (IEM) Deep specialist expertise in metabolic genetic disorders — including Mucopolysaccharidoses, Niemann-Pick disease, Gaucher disease, and other lysosomal storage conditions — built through years of clinical and research work at AIIMS under one of India's leading IEM specialists. Neurogenetics and Neurometabolic Disorders Comprehensive evaluation of hereditary neurological conditions, genetic epilepsies, and nuclear mitochondriopathies — with published research and international conference presentations in this area. Skeletal Dysplasia and Syndromic Conditions Specialist diagnosis of rare bone growth disorders and dysmorphic syndromes — including the first Indian report of Penttinen syndrome and first prize-winning research on mesomelic dysplasia at the National Symposium on Genetic Diseases 2022. Developmental Disorders and Paediatric Rare Diseases Expert evaluation of developmental delay, intellectual disability, autism spectrum disorder, and congenital anomalies — applying advanced genomic tools including chromosomal microarray and Next-Generation Sequencing to complex paediatric presentations. Prenatal and Reproductive Genetics Counselling and diagnostic guidance for fetal anomalies, high-risk pregnancies, and preconception planning — supporting families through consequential decisions with clinical precision and empathy. Genomic Diagnostics and Variant Interpretation Trained in exome sequencing analysis and interpretation at AIIMS, with hands-on experience across chromosomal microarray, NGS panels, and biochemical genetics — translating complex genomic data into actionable clinical guidance.

Why Consult Dr. Bhawana Through Genetidoc?

Dr. Aggarwal's career has been shaped by one of India's most demanding clinical genetics environments — AIIMS New Delhi, where the complexity and volume of rare disease cases is unmatched in the country. As a trainee, researcher, and then faculty member at the same institution, she has accumulated a depth of experience in lysosomal storage disorders, neurometabolic conditions, and rare syndromic diseases that few geneticists anywhere in India can match. Her publications — including the first Indian case report of Penttinen syndrome and research on Niemann-Pick disease, Sengers syndrome, and citrullinaemia — reflect a clinician who does not just manage rare diseases, but actively advances the understanding of how they present in the Indian population. Through Genetidoc, she is available for online consultations by appointment to families anywhere in India. If genetic testing is needed, Genetidoc arranges sample collection from the patient's home or nearest clinic, with processing at NABL and CAP accredited partner laboratories.

Consultation Details

Mode: Online (Video / WhatsApp) Languages: Hindi, English Available: By appointment, nationwide for online consultation Sample Collection: Home pickup available across India

About Genetidoc

Genetidoc is India's largest network of online genetics specialists. 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.