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Volume 6 | Issue 2 | April - June 2013 |
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| GeNeDiT | ||
| 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 |
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| ClinicalVignette | ||
| 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 |
||
| GeNeViSTA | ||
| 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 |
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| GeNeViSTA | ||
| 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 |
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| GeNeXprESS | ||
| 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 |
||