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Volume 2 | Issue 2 | April - June 2009

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April - June 2009 | Vol 2 | Issue 2 | Pages 2
The Future of Genetics and Genomics in India
February 12, 2009 marks the 200th Birth Anniversary of Charles Darwin (1809-1882), and 150th year since publication of his seminal work On the Origin of Species. The renowned 19th century naturalist made observations on plant and animal life that set science on a new course, introducing evolution as a unifying concept in all of genetics...

Ishwar C Verma
April - June 2009 | Vol 2 | Issue 2 | Pages 4-6
Stem cell therapy: Current status
Stem cells have always been fascinating for scientists due to their undifferentiated state that can give rise to a highly specialized cell type or organism and their seemingly endless self-renewal potential. Research on stem cells is advancing knowledge about how an organism develops from a single cell and how healthy cells replace...

Dr Ashwin Dalal
April - June 2009 | Vol 2 | Issue 2 | Pages 7-9
Multiplex Ligation-Dependent Probe Amplification (MLPA): A versatile technique in molecular diagnostics
In the history of medical genetics, identification of correct number of chromosomes in mid 1950s was a major breakthrough. In the past three decades, DNA technology has revolutionized the diagnostics in medical genetics. Various cytogenetic as well as molecular genetic techniques like fluorescent in-situ hybridization (FISH) and its variations,....

Kausik Mandal, Shubha R Phadke
Clinical Vignettes
April - June 2009 | Vol 2 | Issue 2 | Pages 10-11
Methylmalonic Aciduria & Homocystinuria, Cobalamin C (cblC) type
We report a child with methylmalonic aciduria and homocystinuria, cobalamin C type and the mutations in her.....

Ratna D Puri, Sunita Bijarnia, Seema Thakur, Verma IC
April - June 2009 | Vol 2 | Issue 2 | Pages 12
Genetic defect in Wilms tumor – 1 Similar to Beckwith Wiedemann syndrome
Beckwith - Wiedemann syndrome (BWS) is an overgrowth syndrome caused by abnormalities of imprinted region on chromosome 11p15. The maternal and paternal copies of genes in this region express differently. Individuals with BWS are at increased risk of Wilms tumor. Scott et al identified abnormalities of 11p15 in 3% of cases of sporadic Wilms tumor...

Dr Shubha R Phadke