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Volume 8 | Issue 4 | October to December 2015 |
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GeNeDit |
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| 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 |
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Clinical Vignette |
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| 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* |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
GeNeViSTA |
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| 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 |
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| Abstract | HTML Full Text | Download PDF |
GeNeXprESS |
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| 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 |
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GeNeMail |
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| 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 |
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PhotoQuiz |
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| 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 |
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| View PhotoQuiz | Click here to send your answer |
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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