Research

  1. Carrier screening in couples
  2. Short stature in children
  3. Triple A syndrome
  4. IV Levetiracetam for epilepsy in children

Courses Done

# Place Conference/Workshop Course
1 UCMS and GTB hospital Paediatric advanced life support
2 SGPGI, Lucknow 15 th ICMR course on medical genetics and genetic counselling Medical genetics and genetic counselling
3 Delhi Cantt. Delhi Second south Asia LSD symposium. ISIEM and Genzyme Lysosomal storage disorders
4 AIIMS, Delhi Third international conference on birth defects, ICBD 2016, SIAMG Birth defects
5 SGRH, Delhi Department of Hematology, SGRH Primary immune deficiencies
6 SGRH, Delhi Cytogenetics training course, SGRH Cytogenetics
7 SGPGI, Lucknow CME on Diagnosis of Genetic disorders in NGS Era & next generation sequencing analysis workshop NGS analysis
8 CDFD, Hyderabad Molecular Genetics training course Molecular Genetics
9 Kochi, Kerala Founder genomics Founder genetics
10 Trivandrum, Kerala 4 th Annual Conference of SIAMG- disorder of prenatal and postnatal growth Disorders of growth
11 Delhi 3 rd South Asia and 19 th Asia LSD Symposium Lysosomal storage disorders
12 Willink metabolic unit, Manchester centre for genomic medicine Virtual clinics and online teaching Metabolic Genetics
13 Virtual Cancer Genetics course, UK Cancer Genetics group Virtual course Cancer Genetics
14 VIII International conference for Cardiovascular Genomic medicine, UK Online CME Cardiac Genetics
15 Genetics of Heart and vascular disease, Mayo Clinic Virtual course Cardiac Genetics

Presentations

Comparison of efficacy and safety of IV levetiracetam and IV Phenytoin in acute childhood seizures Pedicon 2015, Delhi
Spectrum of Genetic etiology of short stature 4th Annual Conference of SIAMG- disorder of prenatal and postnatal growth Trivandrum, Kerala
Interesting case of skeletal dysplasia
A highlight on the clinical and diagnostic profiling of children presenting with metabolic liver disease in one calendar year from a tertiary centre in north India. IV National Conference of Indian Society of Inborn Errors of Metabolism Chennai
Founder mutation in Agarwal community Founder Genomics Kochi, Kerala
Spectrum of genetic etiology of congenital hearing loss – A retrospective study from a tertiary centre in north India. SIAMG conference on birth defect AIIMS, Delhi
Hemophagocytic lymphohistiocytosis – A rare presentation of Gaucher disease 3rd South Asia and 19th Asia LSD Symposium