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Volume 12 | Issue 4 | October to December 2019 |
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GeNeDit |
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| October to December 2019| Vol 12 | Issue 4 | Page No 1-2 | |||
| Genetic Literacy: Is the Population Ready? | |||
| Health is a topic close to everyone’s heart! Health columns in newspapers and magazines and health-related programs on television are very popular. Over the decades, they have played a major role in creating awareness about common health problems and their preventive measures. Dr. Shubha Phadke |
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Clinical Vignette |
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| October to December 2019| Vol 12 | Issue 4 | Page No 3-5 | ||||||
| A Fetus with Trisomy 12p: Prenatal and Postnatal Presentation | ||||||
| Trisomy of the short arm of chromosome 12 is a rare chromosomal abnormality. We have compared the ultrasound features and autopsy features of a fetus with trisomy 12p with a previous reported antenatal case and Pallister Killian syndrome.
Seema Thakur1, Chanchal Singh2, Manju Gupta3 |
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GeNeViSTA |
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| October to December 2019| Vol 12 | Issue 4 | Page No 6-9 | ||||||
| Direct-to-Consumer Genetic Testing (DTC-GT) | ||||||
| Direct-to-consumer testing (DTC-GT) is a new model of genetic service delivery available to consumers without the intermediary of a health care professional. Companies marketing such a service model highlight only the benefits without stressing on the potential drawbacks of such a system.
Urja Asher, Dhanya Lakshmi N, Girisha KM |
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GeNeViSTA |
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| October to December 2019| Vol 12 | Issue 4 | Page No 10-13 | ||||||
| Population Genetic Variant Databases- Utility in Clinical Genetics | ||||||
| Next generation sequencing based analysis has revolutionized the field of genetic diagnostics. However, these high throughput techniques reveal thousands of variants in individuals, many of which are non-disease-causing polymorphisms. Knowledge regarding the polymorphisms in each
Ikrormi Rungsung, Ashwin Dalal |
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GeNeXprESS |
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| October to December 2019| Vol 12 | Issue 4 | Page No 14 | ||||||
| Molecular Diagnosis Aids in Specific Treatment of Rare Diseases | ||||||
| Proteus syndrome is an overgrowth disorder caused by somatic mosaicism of the variant c.49G>A (p.Glu17Lys) in AKT1 gene. Miransertib, a small molecule that inhibits AKT1 has been tried in some cancers with the same variant in somatic cells. Noreuil et al. conducted a pharmacodynamic study Dhanya Lakshmi N |
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PhotoQuiz |
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| October to December 2019| Vol 12 | Issue 4 | Page No 17 | This fetus was referred for autopsy evaluation in view of antenatal ultrasound findings of bilateral short humeri. This was the second pregnancy of a third degree consanguineous Dr Prajnya Ranganath |
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Position Statement |
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| Direct-to-consumer Genetic Testing: Position Statement of the Society for Indian Academy of Medical Genetics (SIAMG) | |||
| With rapid technological advances, genomic testing has become widely available and affordable to the public. 'Direct-to-consumer genetic testing (DTC-GT)' refers to genomic/genetic testing offered to consumers by commercial service providers without the supervision and guidance of a health care professional, predominantly for the purpose of finding their ethnic origins, paternity, genomic variants that might affect disease |
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Announcements |
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| 1. Indo-US Symposium on Genetic Neuromuscular Disorders & Sixth Annual Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2019) 2. SSIEM (Society for the Study of Inborn Errors of Metabolism) Course on Inherited Metabolic Disease 3. SIAMG - Genzyme Fellowship Program in Clinical Genetics 4. Marfan syndrome and other aortopathies |
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