Dr. Snehal Somnath Mallakmir

Dr. Snehal Somnath Mallakmir

M.B.B.S., D.CH, Diploma in Medical Genetics, Fellowship in Clinical Genetics

Dr. Snehal Mallakmir is working as a Clinical Geneticist at Navi Mumbai since the past 4 years. She has previously worked as a consultant clinical geneticist at Dr. D.Y.Patil Medical College, Nerul, Navi Mumbai and Lilac Insights genetic diagnostic Laboratory, Vashi.

Dr. Snehal Somnath Mallakmir


Qualification:-           M.B.B.S.,

                                          Diploma in Child Health,

                                          Diploma in Medical Genetics,

                                          Fellowship in Clinical Genetics

Area of Interest:- Clinical Genetics  


Educational Qualification:-






B. J. Medical College and Sassoon Hospitals ,Pune        

(Pune University)

October 2000

Diploma in Child Health

Seth G. S. Medical College and KEM Hospital, Mumbai

(Mumbai University)

January 2005

Diploma in Medical Genetics

Vidyasagar Institute of Genetic Studies, Mumbai

June 2007

Fellowship in Clinical Genetics

Seth G. S. Medical College and KEM Hospital, Mumbai

August 2011


Academic Highlights:-

1. SSC- Ranker in divisional Board with 90.28% marks


2. HSC- First ranker in Nashik divisional Board and 2nd in Maharashtra State with 95.83% marks


3. Distinction in 1st year MBBS in Biochemistry


4. Distinction in 3rd year MBBS in Ophthalmology and Otorhinolaryngology


5. Distinction in Diploma in Medical Genetics




Experience and skills:-

§  Hands on experience in biochemical genetic laboratory at Bombay Hospital.

§  Guest Lecturer in Clinical Genetics at Terna medical college and Hospital, Navi Mumbai.

§  Practical training in cytogenetics including karyotyping and FISH at ICMR, NIIH

§  Practical training in molecular genetic techniques at hematogenetic laboratory at NIIH, ICMR

§  Worked as Research Associate on ICMR Project on Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia.

§  Worked as Study coordinator on the Phase III multi-centre, multinational, clinical drug trial in Patients with Type 1 Gaucher Disease by Genzyme corporation, UK.

§  Case presentation at 1st international Indo-US Symposium on Skeletal Dysplasia at Sanjay Gandhi Postgraduate Medical Institute, Lucknow held in February 2011.

§  Experience in laboratory genetic skills in microscopy techniques, cytogenetics, molecular genetics and biochemical genetics in pediatric research laboratory of Department of Pediatrics at Seth G. S. Medical College and KEM Hospital, Mumbai during February 2010 till August 2011.

§  Poster presentation on ‘High risk screening of inborn errors of metabolism’ in International conference on Inborn Errors of Metabolism by Indian society of Inborn errors of metabolism in April 2013 at Delhi.

§  Invited as a guest speaker in Basic Genetic CME held by Department of Cardiology of D.Y.Patil Hospital, Nerul, Navi Mumbai in Jan 2013

§  Project report  prepared during fellowship titled “ Mucopolysaccharidosis- A Clinical study of symptoms and complications” studied retrospectively over past 11 years

(oral paper on this topic was presented at national conference by Indian Academy of Pediatrics “Pedicon 2012” held at Gurgaon )




1.     Osteogenesis imperfecta: an atypical association, Int J Res Med Sci2015; 3(3): 783-785

2.     A study of Apo lipoprotein ‘E’ polymorphism and lipid profile in coronary artery diseaseInternational Journal of Recent Trends in Science and Technology, ISSN 2277-2812 E-ISSN: 2249-8109 Volume 11, Issue 2, June 2014 pp 234-237







  • Developmental delay/ regression of milestones
  • Congenital malformations
  • Dysmorphism syndromes
  • Chromosomal disorders
  • Monogenic /polygenic disorders
  • Inborn errors of metabolism
  • Newborn screening
  • Genetic disorders involving various systems like hemoglobinopathies, neuromuscular disorders, skeletal disorders (eg. Thalassemia, sickle cell disease, muscular dystrophies, skeletal dysplasias, metabolic storage disorders) etc.
  • Genetic disorders with visual or hearing impairment
  • Prenatal diagnosis and counseling
  • Bad obstetric history
  • Cancer genetics
  • Disorders of male and female sexual differentiation
  • Dealing with ethical, legal and social issues related to medical genetics







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