Progeria - Genetic Disoders


                                               Progeria – Old before time

Genetic disorders are result from an alteration in the DNA sequence. Most genetic disorders are caused by multifactorial means, involving a combination of genetic and environmental factors. Thousands of human diseases are now known to be caused by single gene disorders and chromosomal abnormalities. 80% of rare disorders are genetic, and thus are present throughout a person’s life, even if symptoms do not immediately appear. Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the Research Institute. It is caused by a hereditary abnormality but is usually not inherited.


Progeria is an extremely  rare  disease caused by abnormalities in the production of the progerin protein. Protein biomarkers which can be used to assess how HGPS patients have reacted to treatment. By using the anti-cancer protein lonafarnib could benefit children with progeria for treatment. As with many diseases, there are no validated blood-related biomarkers for progeria, and this presents a problem when measuring the effects of the treatments. Research in the field of progeria can be help to identify mechanism behind normal aging and premature aging.

 In some cases, hereditary changes are passed from one generation to the next. In other cases, they occur randomly in a person who is the first in a family to be diagnosed. Many rare diseases appear early in life. The exact cause for many rare diseases remains unknown.


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.

Best Wishes 
Ellie Rose 
Email: rarediseases@healthcarevents.com

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