0000-0002-1254-2988 About
Aayushi Gupta is an accomplished Senior Genetic Counsellor and Medical Scientific Affairs Associate, currently based in Noida, India. With a rich and diverse background in clinical genomics, molecular genetics, and biotechnology, she brings both scientific depth and empathetic communication to her role in translating complex genetic information into actionable healthcare solutions.
Aayushi is currently serving at Redcliffe Labs, where she leads genetic counselling services, reviews advanced genetic reports (NIPT, QF-PCR, CMA), contributes to scientific content development including NGS brochures, and plays a pivotal role in patient education initiatives. Her previous appointments at Sandor Specialty Diagnostics and Bione Ventures Pvt. Ltd. have further refined her expertise in rare genetic disorders, genome interpretation, and personalized medicine, having counselled over 500 cases cumulatively.
Academically, Aayushi holds a Postgraduate Diploma in Medical Biotechnology with specialization in Genetic Counselling, sponsored by the Department of Biotechnology, Government of India, and an M.Sc. in Molecular and Human Genetics. She is currently pursuing a Ph.D. in Biotechnology, focusing on cutting-edge research applications in healthcare. She is also a Certified Genetic Counsellor under the Healthcare Sector Skill Council.
Her scholarly contributions include peer-reviewed publications on rare disorders such as Rett Syndrome, Bardet-Biedl Syndrome, and Pseudo-TORCH Syndrome, with research featured in journals like Springer Nature, Hong Kong Journal of Paediatrics Research, and Journal of Reproduction and Infertility. Aayushi has presented at global platforms including the 4th International Conference on Neurology and Brain Disorders (Rome) and the 9th Pan Arab Human Genetics Conference, and serves as a journal reviewer for several scientific publications.
She is actively involved in continuous professional development, having completed intensive workshops on genomic variant interpretation (GUaRDIAN, IGIB), CRISPR genome editing (IISc), and metabolomics. She is a member of the Arab Society of Genetic Counsellors, contributing to global discourse on clinical genetics.
Beyond her scientific endeavors, Aayushi is an award-winning chess player, with achievements at state, district, and national levels, and holds a strong commitment to community service through her NSS certification. Her career reflects a powerful blend of research acumen, clinical proficiency, and a deep-rooted commitment to equitable genomic healthcare access.
Employment
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Redcliffe Labs Senior Genetic Counsellor & Associate-Manager Medical Scientific Affairs2023 - Present
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Sandor Diagnostics Genetic Counsellor2022 - 2023
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Bione Ventures Genetic Counsellor & Genome Analyst2022 - 2022
Education
Education history is unavailable.
Projects & Funding
Projects & funding information is unavailable.
Publications (8)
- Beyond the seizure: the overlooked sensory phenotypes of Munc18-1 dysfunction Save
- Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access Save
- The genetic architecture of neurological disorders: an integrated review Save
- Embracing Neurodiversity: The Critical Role of Awareness And Acceptance in Autism Spectrum Disorders Save
- Familial 2q13 Microduplication: A Unique Genetic Marker in Autism Spectrum Disorder Save
- A case report of X-linked CDKL5 gene variant in monozygotic twins associated with developmental and epileptic encephalopathy-2 Save
- A Case Report of Family with Pathogenic Variants in SIX6 and TTC8 Genes Indicating Bardet-Biedl syndrome 8 Save
- A Novel Familial Case Report of Genetic Syndrome Mimicking Congenital TORCH infections; Pseudo-TORCH Syndrome 2. Save