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

Comments

Post a Comment

Popular posts from this blog

Rare Autoimmune Diseases

Image
                                                                                                       Scleroderma Scleroderma is considered an autoimmune rheumatic disease , refers to a range of disorders in which the skin and connective tissues tighten and harden and a connective tissue disorder. It is a long-term, progressive disease. Scleroderma is not contagious, infectious, cancerous or malignant. Reason behind this diseases is our immune system, which causes the body to make too much of the protein collagen, in which the skin gets thick and tight, and scars can form on lungs and kidneys. The blood vessels be...
Read more

Rare Oral Diseases

Image
                                                  Rare Oral Diseases Rare Oral abnormalities are dysfunctions and diseases of oral tissues and dentition caused by defective genes. Many genetic oral diseases indicate more complex disorders and are linked to inherited traits and defects, or result from spontaneous genetic mutations. Appropriate formation of the skeleton and dentition requires integration of various processes starting in early embryonic development. These include patterning of the head, limbs, and dental elements, cell movement and expansion, separation to specialized cells, matrix secretion, bio mineralization of bones and teeth, and remodelling of bone. Types of Rare Oral Diseases 1. Hyperdontia:  This rare condition is affects approximately two percent of the population. In some cases, however, a person will grow extr...
Read more

Rare Neurological Disorders

Image
                                                                                          Rare Neurological Disorders Creutzfeldt-Jakob disease  (CJD)  is a   rare , degenerative,  lethal  brain  disorder . CDJ is caused by an  infectious   agent  called prions that  results  in  rapid  degeneration of the host’s brain tissue. It  influences   around  one  individual  in every one million per year  worldwide ;  in the   United  States there are  approximately  350 cases per year.  CJD will have symptoms like ataxia, or d...
Read more