Exome Sequencing

                    Rare Diseases : The new era of research

Rare diseases are very poorly understood, so there is need to increase awareness, there is need to understand them better and there is a very large unmet need to develop therapies for these diseases. When it comes to rare disease research, finding a new treatment for these disorders is a complex undertaking. It often involves a sizable investment in research, and years of clinical trials. Most rare disorders are genetic disorders; others are rare tumors, auto-immune diseases, congenital malformations, infectious diseases, intoxications and neglected tropical diseases. While signs might be identified during adolescence, more than half of uncommon diseases appear during adulthood and are frequently life-threatening.  

It is believed that several rare diseases are caused by hereditary changes in the small piece of the DNA that code for proteins, known as the exome. However, the Rare99x Clinical Exome Challenge, to decode the DNA of individuals with rare disorders, in order to identify the genetic mutations responsible of their diseases. In early, the hereditary causes for rare diseases were identified using exome sequencing.

To know more about this topic, be a part of Gulf Rare Diseases Conference 2018, will be held during August 27-29, 2018 at Dubai, UAE. Mechanistically, there’s a huge amount of discovery because rare diseases are so under-researched, so it’s an incredible place to get knowledge about rare disease.

With best wishes,

Ellie Rose
Program Manager
Gulf Rare Diseases 2018
Kemp House, 152 City Road
London EC1V 2NX
United Kingdom
Tel: +1- 702-508-5200 Ext- 8122
Email: rarediseases@healthcarevents.com