Genetic Clinics
GeNeDit
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
Clinical Vignette
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
Clinical Vignette
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
GeNeViSTA
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
GeNeXprESS
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
PhotoQuiz
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
GeNeEvent
Third South Asia and Nineteenth Asia LSD Symposium 2018 Second Conference on Recent Advances in Rare Diseases (RARD)
GeNeMail
Dear Editor, This letter is about the Manchester Dysmorphology Course, which I attended this year, from April 17-19, in Manchester, United Kingdom.
Announcements
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)
