Society for Indian Academy of Medical Genetics

GeNeDit

April to June 2020| Vol 13 | Issue 2 | Page No 01

Care for the Rare

Twenty-ninth February 2020 was celebrated all over the world, by patients' families and clinicians, especially medical geneticists. This year being a leap year, this rare disease day is really rare. Other than being a really rare day, the Rare Disease Day of 2020 really is a milestone in the history

Dr. Shubha Phadke

Clinical Vignette

April to June 2020| Vol 13 | Issue 2 | Page No 02-04

Novel Bi-allelic Variants in GJC2 Associated Pelizaeus-Merzbacher-like Disease 1: Clinical Clues and Differential Diagnosis

Hypomyelinating Leukodystrophy-2 (HLD2) or Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy characterized by nystagmus, hypotonia, and developmental delay. It is a close differential diagnosis for Pelizaeus- Merzbacher disease (PMD) and should be suspected in patients

Dr Ishwar C Verma

GeneFocus

April to June 2020| Vol 13 | Issue 2 | Page No 05-10

Exome Sequencing: Knowledge, Attitude, and Perspectives of Non-geneticist Clinicians in India

In India, due to the large population, high prevalence of consanguinity and decreasing trend for infectious and nutritional diseases, genetic diseases account for significant mortality and morbidity. However, trained genetic professionals are very few, hence, non-geneticist clinicians i.e. clinicians without...

Dr Shubha R Phadke

GeNeViSTA

April to June 2020| Vol 13 | Issue 2 | Page No 11-12

Secondary Findings in Genomic Testing

Next generation sequencing (NGS) has changed the landscape of genetic diagnoses with shorter time to diagnosis, discovery of novel disease-causing variants/genes and newer insights into molecular mechanisms of disease. But one of the challenges with this powerful technology is the discovery of secondary findi...

Dr Dhanya Lakshmi N

GeNeXprESS

April to June 2020| Vol 13 | Issue 2 | Page No 13-14

Beyond Exome: Fishing for Answers in the ExpansiveOcean of "Omics"!

Schluth-Bolard et al. report a study of 55 patients with developmental disorders and balanced chromosomal rearrangements where Whole genome paired end sequencing was done to look for pathogenic events that could explain the abnormal phenotypes. Gene expression analysis of disrupted & surrounding genes, and disruption of topology associated domains was also taken into account for analysis ...

Dr Shagun Aggarwal

Heartoheartalk

April to June 2020| Vol 13 | Issue 2 | Page No 15

A Brother's Gift of Love

Ibadat (name changed), a young man in his early twenties, came to the Medical Genetics out-patient department for consultation regarding his younger brother who was seen about a decade ago in our department. He was depressed as his younger brother had become bedridden and the rapid deterioration and impending serious ...

Dr Shubha R Phadke

PhotoQuiz

April to June 2020| Vol 13 | Issue 2 | Page No 16

This 17-years-old male patient presented with history of vomiting, melena, and anemia of 3 months duration. Upper gastrointestinal endoscopy and colonoscopy revealed multiple polyps...

Dr Prajnya Ranganath