Dr. Nirali Desai
MBBS, Specialization in Medical Genetics
Consultant, Genetic
About Dr. Nirali Desai
I am a MBBS graduate, a Board of Genetic Counseling, India Certified Genetic Counselor (Level II) and a Certified Trainer in Genetic Counseling. I hope to build a genetic service framework that makes it easier for patients and clinicians to access the right tests and avail better counselling.
I offer Genetic Consultation across various specialties - Reproductive Genetics, Carrier Testing & Family Planning, Prenatal Genetic Counseling, Birth Defects & Dysmorphic Facies, Neurogenetics, Metabolic Genetic Disorders, Hereditary Cancer Counseling, Ocular Genetics, Nephrogenetics, Cardiovascular Genetics, Blood Disorders & Hematological Genetics, Skeletal & Connective Tissue Disorders, Genodermatoses, Early & Late Onset Deafness, Endocrinological Genetics, Immunodeficiency Disorders, Hepatobiliary Genetics, Pulmonary Genetics.
I have been a speaker at various national-level conferences. I am a member of the Society for Indian Academy of Medical Genetics and a member of the Society of Fetal Medicine.
I have served as an Interviewer/ Examination Faculty for the Board of Genetic Counseling, India, for 3 years.
I am actively involved with patient support groups like Cure SMA India and The Wishing Factory (an NGO for Thalassemia Major patients)
Expertise
Areas of Interest
- Genetic Counseling for - Recurrent pregnancy loss and infertility; multiple congenital anomalies & dysmorphic facies; unexplained developmental delays
- intellectual disabilities
- Autism Spectrum Disorder; muscular dystrophies
- Huntington's disease
- hereditary ataxias; Cancer; Inborn errors of metabolism; Eye conditions like retinitis pigmentosa
- congenital cataracts; Hereditary kidney diseases like polycystic kidney disease (PKD)
- Alport syndrome; Inherited heart conditions such as hypertrophic cardiomyopathy; Hereditary blood disorders like thalassemia
- sickle cell disease
- hemophilia and hereditary thrombophilia; Inherited skeletal dysplasias
- osteogenesis imperfecta
- Marfan syndrome; skin disorders like including ichthyosis
- epidermolysis bullosa
- neurofibromatosis
- tuberous sclerosis; hearing loss; endocrine disorders like congenital hypothyroidism
- congenital adrenal hyperplasia; Primary immunodeficiency disorders; Hereditary liver and biliary disorders like Wilson's disease; Inherited lung conditions like cystic fibrosis
Treatments / Procedures Offered
- Genetic Testing Recommendations and Interpretation
Education & Training
Bai Jerbai Wadia Hospital for Children, Mumbai
MBBS - Pramukhswami Medical College, Gujarat, Genetics Program from Harvard Medical School, USA, Professional Certificate Programme in Genetic Counselling - Internship at the Genetics Department of Sir Ganga Ram Hospital, Delhi, Training in Human Genomic Techniques at the Institute of Human Genetics, Ahmedabad, Observership
Fellowships
Hands-on Workshop – Molecular Testing for Genetic Disorders by CDFD, Hyderabad
Management Programme for Medical Professionals - Indian School of Business (ISB)
Experience
Dr. Nirali Desai
Currently, I work as a Genetic Consultant at the HistoNe Genetic Clinic, Mumbai. Along with Criticare Asia Multispeciality Hospital and Research Center, I also serve as a visiting Genetic Consultant at Mothers Care Clinic, Mumbai.
Earlier as a Genetic Counselor at MedGenome Labs, I worked closely with genomic diagnostics and patient counseling. At LifeCell International, as a Senior Genetic Counselor I lead a team of four counselors. Later, as a Product Manager at Genetico Research & Diagnostics, I was involved in developing the proprietary software supporting the PRaGeD national programme, collaborating with AIIMS Delhi, NIMS Hyderabad, SGPGI Lucknow and 13 other such prestigious institutes across India.
My passion lies in academics where I want to contribute to the next generation of professionals who will shape genetic medicine in India. I have served as a Guest Faculty in Genetic Counseling at Tata Memorial Hospital and Gujarat University. I conduct mentorship programmes for aspiring genetic counselors and have served as an Interviewer/ Examination Faculty for the Board of Genetic Counseling, India, for 3 years. I also conduct programs (in Genetics) for clinicians.
Awards
Board of Genetic Counseling, India Certified Genetic Counselor (Level II)
Certified Trainer in Genetic Counseling by the Healthcare Sector Skill Council
OPD Schedule
Timings may change on public holidays. Please book ahead to confirm your slot.
Availability details will be updated soon. Please book an appointment for the latest schedule.
Book an Appointment