Fellowship in Pediatric Genetics

Applicants should have completed MD or DNB in Pediatrics, or equivalent qualification / DCH with Two Years Clinical Experience.

Concepts to be covered during program:

• Genetic and molecular epidemiology
• Clinical evaluation and genetic counseling
• Chromosomal disorders
• Inheritance patterns- single gene mendelian inheritance pattern
• Unusual modes of inheritance- Uniparental disomy, imprinting, triplet repeat disorders, mitochondrial inheritance
• Pedigree taking and analysis
• Phenotypes/genotype correlations
• Testing protocols
• Laboratory techniques in genetics – chromosomes, DNA and molecular cytogenetics (FISH)
• Prenatal interventions for genetic conditions- prenatal diagnosis, pre-implantation diagnosis
• Ethical issues in management of genetic disorders
• Newer concepts: Cloning, human genome project, stem cell applications, gene therapy, pharmacogenetics and personalized medicine
• Associated topics: clinical photography in genetic medicine, record keeping and retrieval, research methodology, public education and social impact of genetic disorders, developmental assessment and special education

Logbook:

A detailed clinical diary will be maintained by each candidate listing patients seen, investigations observed or done personally, courses and conferences attended, case reports prepared and published and lectures and other teaching programs attended.

Academics:

• The candidate will be expected to present cases and clinical signs in outpatient clinics and to postgraduates (DCH, MD, DNB courses) by way of case presentations, seminars and bedside teaching etc in the wards.
• A research methodology course for 3-5 days will be arranged every year.
• Patient and parent education and of other paramedical health professionals regarding implications and management of genetic disorder involved in the treatment will be undertaken by the trainee under supervision.

Rotation & Postings:

• Two months Laboratory rotation in genetics laboratory to have hands-on training in common diagnostic procedures and clinical interpretation of reports.
• One week in Fetal Medicine unit to observe common prenatal screening and diagnostic procedures.

Scheme of Examination: (Total 400 marks)

• Written: includes 2 theory papers 100 marks each. Two long essays (20 marks each), remaining six short essays (10 marks each)
• Practical: 2 Cases – 75 marks each
• VIVA VOCE: 50 marks