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Volume 9 | Issue 3 | July to September 2016

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July to September 2016 | Vol 9 | Issue 3 | Page No 1-2
Rare Disorders in India: A New Beginning
Most of the genetic disorders are rare. Though the definition for 􀈆rare disorders􀈇 varies in different countries, the basic premise is that they are not common. The other aspect about rare disorders is that most of them do not have curative treatment. Except Down syndrome and beta thalassemia, even the commonest of the genetic disorders like Hemophilia and Duchenne muscular

Shubha R Phadke
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Clinical Vignette

July to September 2016 | Vol 9 | Issue 3 | Page No 3-6
Schizencephaly Associated with EMX2 Mutation: A Case Report
Schizencephaly is a rare human congenital disorder of the brain characterized by abnormal continuity of grey matter tissue extending from the ependymal lining of the cerebral ventricles to the pial surface of the cerebral hemisphere surface. We describe here a 7 year old boy affected with bilateral schizencephaly, born to non-consanguineous parents who presented with intellectual disability
Manju O Pai, Divya Aggarwal, Joshi Stephen and Shubha R Phadke
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July to September 2016 | Vol 9 | Issue 3 | Page No 7-12
Coffin Siris Syndrome: A Disorder of SWI/SNF Pathway
Coffin-Siris syndrome (CSS) is classically characterized by aplasia/hypoplasia of the distal phalanx or nail of the fifth digit, coarse facial features and moderate to severe developmental delay. CSS is a genetically heterogeneous disorder with clinical variability. flecently, mutations in five genes which encode for subunits of the ATP dependent chromatin-remodeling complex- switch/sucrose

Shivani Mishra and Shubha R Phadke
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July to September 2016 | Vol 9 | Issue 3 | Page No 13-18
Next Generation Sequencing in New Born Screening - Current Insights
Newborn screening (NBS) program refers to a nation-wide or state-wide program that identifies and treats newborns with rare congenital conditions before the onset of symptoms, preventing premature death and serious disability in thousands of newborns. Following the great success of Next Generation Sequencing "NGS) technology in the clinical diagnosis of genetic disorders, a lot of
Deepika Delsa Dean and Sarita Agarwal
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July to September 2016 | Vol 9 | Issue 3 | Page No 19-20
Tradition with a Twist: New Avenues for Genetic Tests
Fetuses with ultrasonographically detected abnormalities are known to carry a high percentage of submicroscopic aberrations in addition to microscopically visible chromosome abnormalities. These could only be detected by targeted testing in case of specific ultrasound anomalies, for example, 22q11 deletion in fetuses with cardiac defects. However, prenatal phenotyping based

Moirangthem Amita
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July to September 2016 | Vol 9 | Issue 3 | Page No 21
This male patient presented with spontaneously resolving recurrent edema of different body parts. In this episode of severe facial edema, infusion of fresh frozen plasma was effective in recovery.

Dr. Shubha R Phadke
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1. Third International Conference on Birth Defects (ICBD-2016) and Third National Conference of SIAMG
2. Dr S S Agarwal Young Scientist Award 2016
3. Dr I C Verma Outstanding Researcher Award 2016
4. Fifteenth ICMR Course in Medical Genetics & Genetic Counseling
5. Manipal Genetics Update III: Skeletal dysplasia
6. An International Summit in Human Genetics and Genomics
7. Genzyme−SIAMG Fellowship in Clinical Genetics
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