Genetic Clinics
GeNeDit
October to December 2015 | Vol 8 | Issue 4 | Page No 1-2
Genomic Era: the Challenges Ahead
The advent of genomic techniques like microarray and massively parallel sequencing has revolutionized the diagnosis of genetic disorders. Massively parallel sequencing or next generation sequencing (NGS) which can sequence many genes or the exome and even the whole genome in one go, has been a great boon for single gene
Shubha R Phadke
Clinical Vignette
October to December 2015 | Vol 8 | Issue 4 | Page No 3-5
Evolution of Congenital High Airway Obstruction Syndrome (CHAOS): A case report
Congenital High Airway Obstruction Syndrome (CHAOS) is a rare, mostly lethal abnormality which is characterized by congenital obstruction of the upper airway usually at the level of the larynx or trachea. This condition is usually diagnosed in utero by ultrasonography which typically shows large echogenic lungs, flattened or inverted di
Poonam Singh Gambhir a, Sushila Jaiswal b and Shubha R Phadke a*
GeNeViSTA
October to December 2015 | Vol 8 | Issue 4 | Page No 6-11
Mendelian Disease Gene Identification and Diagnostics using Targeted Next Generation Sequencing
During the last few months we have observed for the rst time since the introduction of the rst massive parallel sequencers in 2007, that the cost of sequencing a human genome has not changed signicantly "Figure 1) [Wetterstrand., 2015]. These numbers challenge a trend that has been maintained during years beating Moore's law, and indicates that in the medium term we
Daniel Trujillano 1*, Rami Abou Jamra 1 and Arndt Rolfs 1,2
GeNeViSTA
October to December 2015 | Vol 8 | Issue 4 | Page No 12-15
Six lethal skeletal dysplasias which a pediatrician should never miss
Lethal in Greek denotes 'death bearing'. Lethal dysplasias present with short limbs or narrow thorax and lead to pulmonary hypoplasia. They are included in the classification of genetic bone disorders "Warman et al., 2011). Availability of a lot of photographs of radiographs in atlas of skeletal dysplasias help in radiological diagnosis
Sheela Nampoothiri
GeNeXprESS
October to December 2015 | Vol 8 | Issue 4 | Page No 16-17
A glimmer of hope: newer treatment strategies for genetic disorders
Drug delivery to the central nervous system, especially of large and charged molecules, has always proved challenging because of the inability of these molecules to efficiently cross the blood brain barrier. Invasive procedures like intrathecal or intraventricular injections are fraught with their own dangers. Intranasal therapy is an exciting
Karthik Bharadwaj T, Diksha Shirodkar, Vijayalakshmi SR and Prajnya Ranganath
GeNeMail
October to December 2015 | Vol 8 | Issue 4 | Page No 18-19
Bar Harbour: a haven for learning genetics
Dear Editor, 'Travel makes one modest. You see what a tiny place you occupy in the world' - Gustave Flaubert When I first heard about the 'Bar Harbour Course' on Medical Genetics, from my HOD, Dr Shubha Phadke, little did I realize the impact that
Dr. Dhanya Lakshmi
PhotoQuiz
October to December 2015 | Vol 8 | Issue 4 | Page No 20
A 6 years old boy presented with short stature and history of recurrent fractures. On examination he had dysmorphic facial features with delayed closure of fontanels. Photograph of the hands and radiographs of the skull, left hand and chest are shown below. Identify the condition.
Dr. Ratna D Puri
Announcements
1. Second Annual Conference of Society for Indian Academy of Medical Genetics IAMGCON 2015
2. Manipal Genetics Update II: Hands-on Workshop on Analysis of Human Exome Data
3. Genzyme-SIAMG Fellowiship in Clinical Cytogenetics
4. Task Force on Lysosomal Storage Disorders
5. Dr SS Agarwal Young Scientist Award - 2015
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