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Volume 6 | Issue 2 | April - June 2013

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April - June 2013 | Vol 6 | Issue 2 | Pages 1-2
Genetics for Clinicians: Lessons to be Learnt from Cancer Genetics
Clinical and medical genetics have gained popularity without the knowledge of medical genetics. in India due to prenatal diagnosis. Prenatal diagnosis The other role of genetics in cancers is in the field of is the ray of hope to the families at risk of genetic hereditary cancers. It is well said about inherited disorders, most of which still continue to remain cancers that while all cancers have a genetic basis, severe, life-threatening, handicapping and 'some cancers are more genetic'. Five to ten percent untreatable. The idea of helping families with....

Shubha R Phadke
April - June 2013 | Vol 6 | Issue 2 | Pages 3-7
Molecular diagnosis of Spondylothoracic Dysostosis – novel mutations: Case report and literature review
Spondylothoracic dysostosis (STD) is an autosomal costovertebral dysplasia, Jarcho–Levin syndrome, recessive disorder characterized by abnormal SCD and STD all being used interchangeably. A vertebral segmentation throughout the spine, with more logical and simplified nomenclature has complete bilateral fusion of the ribs at the 4 recently been proposed. costovertebral junction producing a ''crab-like'' configuration of the thorax. The condition is...

Seema Thakur , Sudha Kohli , Renu Saxena , Sian Ellard , Peter Turnpenny , I C Verma
April - June 2013 | Vol 6 | Issue 2 | Pages 8-11
Cancer Genetics: From Bench to Bedside
The incidence and prevalence of cancers is rapidly Cancer is a genetic disease. The process of increasing in our country. In the years to come, oncogenesis begins with a mutation in a single gene malignant disorders will become one of the most in a single cell and then progresses to cause common and challenging diseases for health care genomic instability leading to accumulation of providers. The development of newer genetic mutations in that cell. These mutations affect the techniques and a better understanding of cancer...

Dr Anupriya Kaur, Dr Gaurav Prakash
April - June 2013 | Vol 6 | Issue 2 | Pages 12-16
The Spinocerebellar Ataxias
Cerebellar ataxias are a group of disorders with has been published. Polyglutamine expansion SCAs progressive incoordination of gait and are often i.e those involving expansion in the CAG repeat associated with poor coordination of hands, speech, units, are more frequent than the other forms of and eye movements. They can be classified into SCA. SCA3 is the most frequent subtype in the world sporadic and inherited ataxias. The inherited ataxias but rare in India (3%). SCA 2 is the most frequent are further divided into autosomal dominant,...

Anju Shukla, Ashwin Dalal
April - June 2013 | Vol 6 | Issue 2 | Pages 17
Non-invasive prenatal diagnosis and more…
The classical method of diagnosing fetal massive reduction in antibody response was chromosomal abnormalities has been karyotyping observed. Thus, using immunomodulatory or fluorescent in situ hybridization following "antibodies" targeting the plasma cell repertoire amniocentesis or chorionic villus sampling. The was found to be safe and effective. invention of "Non-invasive Prenatal Diagnostics" (NIPD) i.e. using cell free fetal DNA in the maternal...

Dr Parag Mohan Tamhankar