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Volume 11 | Issue 3 | July to September 2018 |
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GeNeDit |
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| July to September 2018| Vol 11 | Issue 3 | Page No 1 | |||
| Changing Scenario of Monogenic disorders: Untreatable to Treatable | |||
| Monogenic disorders are ignored by clinicians as rare and mostly untreatable disorders. Emergence of recombinant DNA technology showed a great hope for cure by gene therapy. I remember telling patients with beta thalassemia about the possibility of cure by gene therapy in the nineties. Dr. Shubha R Phadke |
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Clinical Vignette |
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| July to September 2018| Vol 11 | Issue 3 | Page No 2-5 | ||||||
| Evolution of Diagnosis with Evolving Technology: A Story of 10q Duplication Syndrome | ||||||
| Complete or partial trisomy 10q involves a duplication of the long arm of chromosome 10. Distal 10q trisomy is a well-recognized but rare genetic syndrome in which duplication of distal segments of 10q results in a pattern of malformations. Dr. Shubha R Phadke |
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Clinical Vignette |
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| July to September 2018| Vol 11 | Issue 3 | Page No 6-10 | ||||||
| Congenital Joint Contractures and Pterygia with Multiple Fractures: A Novel Mutation in the PLOD2 Gene | ||||||
| Arthrogryposis multiplex congenita (AMC) or arthrogryposis describes congenital joint contracture in two or more joints. The combination of fractures and pterygia with arthrogryposis is scantly reported in literature.
Veronica Arora1, K K Saxena2, Pratibha Bhai1, Renu Saxena1, I C Verma1, Ratna Dua Puri1 |
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GeNeViSTA |
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| July to September 2018| Vol 11 | Issue 3 | Page No 11-19 | ||||||
| Genetic Approach to Congenital Malformations | ||||||
| Development of a multicellular organism from a single cell is a very complex, co-ordinated process governed by many genes and their timely expression in various organs at various stages of embryogenesis.
Dr. Shubha R Phadke |
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GeNeXprESS |
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| July to September 2018| Vol 11 | Issue 3 | Page No 20-21 | ||||||
| Breakthroughs in Genetics: Success Stories of Gene therapy in 2017-18 | ||||||
| Gene therapy for permanent cure of genetic diseases is the ultimate aim of Genomic Medicine. The year 2017-18 was a promising year for Genomic Medicine with a few major successes in gene therapy. Priyanka Srivastava, Shubha R Phadke |
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PhotoQuiz |
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| July to September 2018| Vol 11 | Issue 3 | Page No 23 | This 11 years old girl presented with facial dysmorphism, mild intellectual disability, and behavioral abnormalities including attention deficit disorder and disinhibition. Lakshmi Priya, Anju Shukla |
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GeNeEvent |
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| Third South Asia and Nineteenth Asia LSD Symposium 2018
Second Conference on Recent Advances in Rare Diseases (RARD) |
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GeNeMail |
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| Dear Editor, This letter is about the Manchester Dysmorphology Course, which I attended this year, from April 17-19, in Manchester, United Kingdom. |
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Announcements |
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| 1. 17th ICMR Course in Medical Genetics & Genetic Counseling | |||
| 2. 4th International Birth Defects Conference (ICBD 2018) & 5th Annual Conference of the Society for Indian Academy of Medical Genetics (SIAMGCON 2018) | |||
| 3. 5th National Conference of the Indian Society of Inborn Errors of Metabolism (ISIEM) | |||
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