Genetic Clinics
Volume 4 | Issue 4 | (October-December 2011)
GeNeDit
October-December 2011 | Vol 4 | Issue 4 | Pages 1-2
A National Program on Beta Thalassemia Prevention : Are we ready?
'Prevention is better than cure' holds true for all diseases but is especially true for most genetic disorders where prevention is still the only option. Even for the disorders for which there is a definitive cure, it is often expensive, cumbersome and associated with major risks. Preventive strategies...
Shubha R Phadke
ClinicalVignette
October-December 2011 | Vol 4 | Issue 4 | Pages 3-6
Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable and age dependent clinical features. Here two children with clinical diagnosis of NF1 are reported and issues related to NF1 diagnostic criteria in the pediatric age group are discussed....
Siddram J Patil
GeNeViSTA
October-December 2011 | Vol 4 | Issue 4 | Pages 7-12
Polymorphisms in drug response and predisposition to common disease
The genetic variations (alleles or sequence variants) present among humans, the rarest of which cannot be maintained by mutation alone and which have a frequency of > 1% in a population, are called genetic polymorphisms.1,2 Table 1 shows the types of genetic polymorphism in humans...
Manu Verma
DeNoVo
October-December 2011 | Vol 4 | Issue 4 | Pages 13-15
Knowledge, Attitude and Practice Study of Beta-Thalassemia in Rural Bengal
Awareness and education are prerequisites of any screening program for genetic diseases, so that people have informed choice whether to be screened and to weigh benefits and risks of screening.1 Beta-thalassemia carrier screening programs can be mandatory or voluntary. They..
Janak K Shrivastava, Nupur Sinha, SK Behera, S Panja, BN Sarkar, VR Rao
GeNeXprESS
October-December 2011 | Vol 4 | Issue 4 | Pages 16-17
Teratogenesis and more...
Genetic abnormalities are more often blamed for congenital defects than teratogens. Classical villains like thalidomide, rubella and syphilis have unmistakable signs. However many of the others operate on the sly because "We don't know what we don't study". Parisi et al make a strong case for...
Parag M Tamhankar
