INDIAN ACADEMY OF MEDICAL GENETICS

GeNeDit

April to June 2016 | Vol 9 | Issue 2 | Page No 1

Pathways to Cure

The endpoint of research in human biology is cure of diseases and improvement in the quality and longevity of life. DNA, the basic molecule of life, has been the target of study and treatment over the last few decades. Techniques to correct the gene defect underlying Mendelian disorders are being pursued along with various forms of

Shubha R Phadke

Clinical Vignette

April to June 2016 | Vol 9 | Issue 2 | Page No 2-4

Fetal myopericytoma: a rare tumour with good prognosis

fleported here is a case of fetal myopericytoma, investigated by prenatal ultrasound and con􀈴rmed by autopsy and histopathological examination after termination of pregnancy. On antenatal ultrasonography, there was a large, multicystic neck mass with enhanced Doppler flow in the fetus at 20 weeks gestation. Parents termina

Mamatha Gowda 1, Susheela Jaiswal 2 and Shubha Phadke 3 *

GeNeViSTA

April to June 2016 | Vol 9 | Issue 2 | Page No 5-14

The Clinical Spectrum of RASopathies

The flASopathies are a specific group of genetic syndromes that occur as a result of germline mutations in genes encoding proteins of the flas–mitogen-activated protein kinase "flAS–MAPK) pathway "Fig 1). These developmental disorders include Neurofibromatosis type 1 "NF1), the first flASopathy identified, followed by Noonan

Divya Agarwal, Ratna D Puri, Achint Kaur, Sunita Bijarnia-Mahay and IC Verma

GeNeViSTA

April to June 2016 | Vol 9 | Issue 2 | Page No 15-29

An approach to genetic disorders affecting the white matter

The white matter lies beneath the gray matter and consists of millions of nerve fibre bundles (axons) that serve as functional circuits linking different regions of the brain. White matter forms the bulk of the deep parts of the brain and the superficial parts of the spinal cord. Aggregates of gray matter are spread within the cerebral white matter. The

Vijayalakshmi SR and Prajnya Ranganath

GeNeXprESS

April to June 2016 | Vol 9 | Issue 2 | Page No 30-31

Therapy for genetic disorders: How far have we come?

Achondroplasia is the most common chondrodysplasia in humans. Gain of function mutation in the FGFR3 causes achondroplasia. FGFR3 is a receptor tyrosine kinase, which negatively regulates growth plate activity, leading to short stature. C Natriuretic Peptide (CNP) was identi􀈴ed as an antagonist of fgfr3 in mouse models. CNP has a low plasma half

Dhanya Lakshmi

PhotoQuiz

April to June 2016 | Vol 9 | Issue 2 | Page No 33

This 3 year old male child presented with global developmental delay, growth failure and coarse facies. Radiographs of the pelvis, bilateral hip joints, femurs and knee joints and left hand are shown. Results of the metabolic testing done are also shown. Identify the condition.

Dr Shubha Phadke