INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

July to September 2015| Vol 8 | Issue 3 | Page No 1

Gene Darning for Gene Therapy

With the invention of recombinant technology and the ability to cut/ paste genes, the immediate goal was to correct genetic defects at the gene level. In the early 1990s, we started showing hope of gene therapy to families with thalassemia major.

Shubha R Phadke

Clinical Vignette

July to September 2015| Vol 8 | Issue 3 | Page No 2-6

Ring Chromosomes 13 and 14 presenting as intractable seizures- report of two cases with unusual features and review of literature

fling chromosomes "flC) result from terminal deletion of chromosome arms, followed by fusion of the broken ends leading to the loss of genetic material. The phenotype is determined by the chromosome involved and the extent of deletion. fling chromosome "flC) is a rare cytogenetic abnormality

Divya Pachat1, Karthik M2, Vivi Srivastava3, Maya Thomas2 and Sumita Danda1*

GeNeViSTA

July to September 2015| Vol 8 | Issue 3 | Page No 7-9

Genetics of Alzheimer disease

Alzheimer disease (AD) is the leading cause of dementia in the elderly. It is estimated to affect more than 5.4 million people in the United States.1,2 Though the life span has been increasing consistently in highly populous countries like India, no such estimate is yet available on the incidence of

Dhanya Lakshmi N

GeNeViSTA

July to September 2015| Vol 8 | Issue 3 | Page No 10-14

Genome Editing: Precise and "CRISPER"

Creation of a desired change in the genome either by gene addition/ gene insertion/ gene correction at targeted sites is known as genome editing. The various methods that are being conventionally used for genome editing typically include a nucleotide or amino acid sequence which identify the targeted genomic site and a nuclease which

Annapurna Gupta and Meenal Agarwal

GeNeXprESS

July to September 2015| Vol 8 | Issue 3 | Page No 15-16

Genome editing technologies: Future of functional and therapeutic genetics!

All over the world, the procedure related risk of miscarriage following an invasive prenatal testing is quoted to be 1-2%. Akolekar et al. have performed a meta-analysis of articles available on MEDLINE, EMBASE, CINHAL and Cochrane library in the period between 2000 and 2014.1 The weighted pooled risk was estimated by 324 losses

Meenal Agarwal

PhotoQuiz

July to September 2015| Vol 8 | Issue 3 | Page No 17

This 6 year old boy, the second offspring of third degree consanguineous parents, presented with progressively increasing deformity of bilateral elbow and interphalangeal joints and nodular swellings on the

Dr. Prajnya Ranganath