Upcoming Events

Saurabh Singh

Qualification: B.A, LL.B, PGDBA

Designation/Affiliation:

• Co-Founder & Director – Rare Diseases India Foundation (RDIF)
• Father of a Rare Disease Child

Awards/Achievements:

• N.C.C ‘A’, ‘B’ & ‘C’ Certificate, Participated in RDC 2000, Recognised by Prime Minister of India in 2000, Recognised by Governor of Bihar in 2000 & also worked 14 years in various MNCs.
• In Rare Diseases – Recognised by Union Health Minister in 2019, Health Minister of Jharkhand in 2022, Governor of Jharkhand in 2022, MPs, MLAs and also recognised by many more notable personalities of India.

Field of Interest:

• Effective Rare Disease Policy in India
• Attention to Rare Disease Patients in the country

Rare Diseases India Foundation (RDIF) is a Non-Profit patient advocacy organization dedicated to individuals with rare diseases, registered in 2019 in India. Acknowledging a felt need for increasing awareness, education, diagnosis, treatment, and management of rare diseases in the country, we have formed this foundation with an ultimate goal to work for them.

CGC Lakshita Chauhan

MEDICAL GENETICIST — My Gene Screen clinic, Ahmedabad (formerly with Army Hospital Research & Referral, New Delhi)

Specialisation:
Preconception, prenatal, postnatal, paediatric, neuro, onco — pre and post-test counselling. Communicating highly sensitive, distressing and complex findings; explaining implications of the test, benefits and limitations; facilitating unbiased decision-making. Uses a customised non‑directive counselling approach to support patients coping with report findings. Works as part of multidisciplinary teams to resolve queries on genetic reports and provide best-in-class support.

Major accomplishments:
• First Genetic Counsellor of Indian Armed Forces (over 5 years).
• Worked with National Inherited Diseases Administration (NIDAN) Kendra, Department of Biotechnology as one of India’s first Genetic Counsellors.
• Set up first genetic clinic and lab in Indian Armed Forces with a Medical Geneticist.
• Signatory authority on Sanger, HBB sequencing and Exome sequencing reports for Indian defence forces.
• Multiple research articles and case reports published.

She is recognised as the FIRST YOUTH ICON in GENETICS.

Dr. Ashok Vellodi

Dr Ashok Vellodi is a former consultant in the Department of Metabolic Medicine at Great Ormond Street Hospital for Children and Honorary Reader, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London.

He completed MBBS at Armed Forces Medical College, Pune and MD in Paediatrics at AIIMS Delhi. He moved to the UK in 1979 and later established the service for lysosomal storage disorders at Great Ormond Street Hospital (1994–2016). Internationally known for work on lysosomal storage disorders, he chaired the European Working Group committee on type III Gaucher disease and developed management guidelines. He has run several clinical trials and has over 120 peer‑reviewed papers and three textbook chapters. Recipient of the Alan Gordon Memorial Award (UK Gaucher Association) and delivered the ISIEM Oration (2014). For 20+ years he has collaborated with colleagues and families in India conducting clinics and CMEs.

Devender Kumar Chansoliya

Devender Kumar Chansoliya

Mr. Jayanta Roy

Mr. Jayanta Roy

Dr. Priyanshu Mathur

Qualifications & Training:
MD Pediatric Medicine; Fellowship in Metabolic Genetic Disorders & Newborn Screening — Emory University School of Medicine, Atlanta, USA. Additional training includes Summer School of Myology (Institut de Myologie, Paris), SIMD NAMA Course (Chaska, Minneapolis), SSIEM Course (Inborn Errors of Metabolism), Tele-ECHO, and Genomic & Precision Medicine course (UCSF).

Current roles:
Consultant Pediatric Rare Disorders; Associate Professor of Pediatric Medicine, SMS Medical College, Jaipur. Former Visiting Assistant Professor, Emory University School of Medicine.

Activities & achievements:
Member of SIMD-NAMA (USA), TREAT-NMD, ISIEM, IMA, NNF, IAP. Publications: ~15 original articles, ~25 case reports, ~5 book chapters; participation in clinical trials and national task forces; guideline contributions (e.g., SMA management during COVID‑19), and advisory roles.

Dr. Veronica Arora

MBBS, MD, DNB (Super speciality Medical Genetics) — Gold Medallist; MNAMS

Currently Consultant & Assistant Professor, GRIPMER, Sir Ganga Ram Hospital, New Delhi. Executive member of the Delhi Chapter of Society of Fetal Medicine and course coordinator/faculty for the genetic counselling course at Future Academy, India. Over 55 publications in peer‑reviewed journals. Special interests: metabolic disorders, fetal malformations, autism, recurrent pregnancy loss, and skeletal dysplasia. Credited with phenotyping novel gene GFRA1 for renal agenesis.

Awards: Gold medal in DNB-SS Medical Genetics (2019–20), Best Resident DNB Super Specialties (Sir Ganga Ram), Best oral paper (ISIEM) and travel scholarships for international courses and conferences.