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Volume 7 | Issue 2 | April to June 2014 |
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| GeNeDiT | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 1-2 | ||
| Early steps towards gene therapy and drugs for genetic disorders | ||
| Till date, more than 1800 gene therapy trials have
been completed, are going on or have been
approved worldwide. Though thought to be a cure
in sight for all genetic disorders more than three
decades ago, the dream of gene therapy continues
to evade scientists as well as hopeful patients. With.... Shubha R Phadke |
||
| ClinicalVignette | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 3-5 | ||
| Fructose 1, 6 bisphosphatase deficiency : A treatable cause of recurrent hypoglycemia | ||
| Fructose 1,6 bisphosphatase deficiency (OMIM
229700) is a rare disorder of gluconeogenesis,
causing recurrent hypoglycemia and lactic acidosis
in infancy. The disease often goes unnoticed during
the immediate post natal period, but can present as
recurrent, life threatening hypoglycemic episodes in
infancy. The attacks are triggered by prolonged... Dhanya Lakshmi N, Joshi Stephen, Shubha R Phadke |
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| GeNeViSTA | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 6-10 | ||
| Marfan Syndrome: Recent Advances in Diagnosis and Management | ||
| Marfan syndrome (OMIM # 154700) is a heritable
disorder of fibrous connective tissue, which affects
multiple systems and has significant clinical
variability. The estimated world-wide prevalence of
Marfan syndrome is one in 5,000 to 10,000
1 individuals. The condition is named after Antoine
Marfan, a French paediatrician who first described... Prajnya Ranganath , Gaurava Kumar Rai |
||
| GeNeViSTA | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 12-16 | ||
| Treatment Strategies for Triplet Repeat Disorders | ||
| Triplet repeat disorders or trinucleotide expansion
disorders (TRDs) are a class of genetic disorders
caused by tandem expansion of a set of triple
nucleotides beyond a certain limit in some specific
genes. The first TRD was identified in 1991 and till
now more than 20 disorders are known (Shown in
Table 1). The characteristic features of TRDs are... Stephen Joshi, Meenal Agarwal |
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| GeNeMusings | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 17-18 | ||
| Genzyme -SIAMG Fellowship - an unforgettable experience | ||
| I came to know about the SIAMG – Genzyme clinical
genetics fellowship when I had been to the IEMCON
conference in New Delhi in April 2013. There was a
strong desire to improve my knowledge of genetics
which would add to my fetal medicine career.
However, I had second thoughts about joining the
fellowship program in the Sanjay Gandhi Postgraduate... Dr Subapriya K |
||
| GeNeXprESS | ||
| April to June 2014 | Vol 7 | Issue 2 | Pages 19 | ||
| Newer therapies on the horizon : A ray of hope, for those who have none | ||
| Nonsense suppression therapy is a therapeutic
approach aimed at treating genetic diseases caused by
in-frame premature termination codons (PTCs; also
commonly known as nonsense mutations). This
approach utilizes compounds that suppress
translation termination at PTCs, which allows
translation to continue and partial levels of deficient... Divya Agarwal |
||