Wednesday, April 13, 2016

Treating Illness by Those who avoided it

There are thirteen lucky people in the world and they do not know they are lucky. When they were born they inherited a mutated gene that causes fatal debilitating disease in infants. Except now these individuals are adults and may hold they key in their DNA to treat others less fortunate. This information was found through the genome sequencing of 600,000 and then found thirteen people with this disorder who are healthy.

All of these people who had the genome sequenced signed a paper stating they want to be anonymous so from their scientist are at a stand still. The research can not move further since they can not know who these lucky 13 are. At this point, they have recruited about 100,000 individuals who agreed to have their genome sequenced only to be contacted if they have the mutated gene which should have killed them but did not. Dr. Friend spent years in academia and biotech corporations examining for ways to fix genetic defects that cause disease. Achievement was rare, because when scientists knew that a gene-destroying mutation was causing a disease, they hardly found a drug to reestablish the gene.Scientists could not just put out a request for such individuals. Healthy people would have no purpose to be screened for mutated genes, and would then have no clue that they were resilient, Dr. Friend began examining international databases for people who were over thirty and healthy but also carried mutations that cause childhood diseases. They stitched together genetic data from twelve large studies, looking for mutations in any of 874 genes that were linked to 584 severe diseases. They found 15,597 people who might fit their criteria for resilience. But they discarded nearly all, either because they found errors in the data or because the evidence supporting the notion that those mutations inevitably caused a severe childhood disease was shaky.What remained were 13 people who had verifiable mutations that cause one of eight serious diseases before age 18 in all who inherit them — or so it had been thought. The eight diseases were cystic fibrosis, Smith-Lemli-Opitz syndrome, familial dysautonomia, epidermolysis bullosa simplex, Pfeiffer syndrome, autoimmune polyendocrinopathy syndrome, acampomelic campomelic dysplasia and atelosteogenesis. The new questions is, why are these people protected? — is inhumanly difficult. Which will arise more people to be sequenced and to do studies from there, right now its a someday hope.
   This article is very interesting because they have used gene sequencing in a new light. They went through almost all the people who have had it done and found a select few who carry a specific gene which was never expressed. The data they collected could help save lives in the future  with these healthy individuals who were fortunate enough to bypass the mutant gene. 

1 comment:

  1. Im not sure what you're referring to "- why are these people protected? - is inhumanly difficult"? However, within a volunteer research, volunteers have the right to not be identified and although they request not to be identified; their participation in the study has provided important information that scientists did not know. I understand that scientist cannot move forward without these identities revealed; but this is an anomaly they must have realized prior to the study. Maybe next time they should request those who wish not to identify themselves not participate.