Society for Indian Academy of Medical Genetics

GeNeDit

April to June 2021| Vol 14 | Issue 2 | Page No 01

More and More for Rare

Come February and there is a flurry of activity related to rare diseases to celebrate Rare Disease Day on 28th February. Last week I saw three patients of Gaucher disease type III on a single day, in the outpatient department. For a medical geneticist, rare diseases are not so rare, as 80% of rare diseases are genetic disorders. But still, getting 3 patients of a rare disease on one day is quite rare! Research

Dr. Shubha Phadke

Clinical Vignette

AApril to June 2021| Vol 14 | Issue 2 | Page No 02-04

NR5A1-related Disorders: Case Report, Review of Phenotypes and Issues in Genetic Counseling

Nuclear Receptor Subfamily 5 Group A Member 1 (NR5A1) encoded steroidogenic factor-1 (SF-1) regulates transcription of genes involved in steroidogenesis, sexual development and reproduction. SF-1 protein is expressed in the bipotential gonad and later in developing ovaries, testes and adrenal cortex.

Dr Anju Shukla

Clinical Vignette

April to June 2021| Vol 14 | Issue 2 | Page No 08-13

Familial Hemophagocytic Lymphohistiocytosis (FHL): An Illustrative Case and Review of Literature

Familial hemophagocytic lymphohistiocytosis (FHL) is a hyperinflammatory disorder which occurs due to a genetic defect in the cytolytic pathway of natural killer cells and cytotoxic T cells.

Dr Sankar V H

GeNeXprESS

April to June 2021| Vol 14 | Issue 2 | Page No 14-15

Rapid Genomic Testing in the Diagnosis of Mendelian Disorders

This study was conducted in Australia to evaluate the feasibility of ultra-rapid exome sequencing in critically ill pediatric patients. A total of 108 sick children with a median age of 28 days, underwent exome sequencing. Fifty five out of 108 patients (51%) received a molecular diagnosis within the median time of 3.3 days.

Dr Vivekananda Bhat

PhotoQuiz

April to June 2021| Vol 14 | Issue 2 | Page No 16

PhotoQuiz 52

This 16-year-old male patient was referred for evaluation of short stature, lower limb deformity, and intellectual disability. Findings characteristic for this disorder

Dr Prajnya Ranganath

GeNeEvent

April to June 2021| Vol 14 | Issue 2 | Page No 17

1. Pledge4Rare: 3 decades of caring for Rare Diseases, from our home to yours.

2. SIAMG-ORDI lecture series

3. Race for 7

4. 5th National conference of the Indian Society of Primary Immune Deficiency (ISPID)