Genetic Clinics
Volume 7 | Issue 2 | April to June 2014
GeNeDit
April to June 2014 | Vol 7 | Issue 2 | Pages 1-2
NGS - From the Womb to the Tomb
Deoxyribonucleic acid (DNA) molecules inside each nucleus of a living cell are the musical instruments of the orchestra of life. The loss of any key of an accordion or breaking of a string of a sitar can disturb the melody of life. Now we have the technology to detect defects in any of the 3 billion keys as easily as looking at the facial...
Dr. Shubha Phadke
Clinical Vignette
April to June 2022| Vol 15 | Issue 2 | Page No 02-05
Carrier Screening in the Current Era: A Report Depicting its Utility and Challenges
Reproductive carrier screening is a genetic test which is offered to healthy individuals or couples who either have a history of a previous child suspected with a genetic condition or are planning a pregnancy. It is carried out to identify...
Aashita Takkar, Veronica Arora, Swasti Pal, Renu Saxena
Clinical Vignette
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
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
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
