Genetic Destiny: Real Life Superheroes Walk Among Us



Susanne.Posel-Headline.News.Official- superheroes.13.icahan.harvard.genetic.mutation_occupycorporatismSusanne Posel ,Chief Editor Occupy Corporatism | Media Spokesperson, HEALTH MAX Brands

 

Thirty Researchers at the Ichan School of Medicine (ISM) have found 13 individuals that carry a genetic mutation that makes them super humans.

By scanning genomes of 600,000 people, these Mendelian mutations , were discovered that should have killed their carriers, but “millions of years of evolution have produced far more protective mechanisms than we currently understand.”

Looking for tell-tale signs of mutations that could lead to any number of distinct genetic disease, the researchers identified 13 individuals whose gene variants should have led to the development of diseases such as cystic fibrosis, Pfeiffer Syndrome, or Smith-Lemli-Opitz syndrome; however “these rare individuals must possess some combination of factors — genetic or environmental — that protects them from an otherwise crippling disease.”

It is still largely misunderstood why these 13 people did not succumb to familial dysautonomia, epidermolysis bullosa simplex, or autoimmune polyendocrinopathy syndrome. However, scientists have previously been able to deduce that because of a number of genetic variants, humans are able to remain healthy, while still being at risk for developing diseases.

The illness not manifesting in these persons with genetic propensity toward them leaves the suggestion that “there must be some protective element for them to have escaped the severity of the symptoms that would have been expected.”

For example, 6 years ago a woman was identified that had extremely low cholesterol in her blood. Her variant is known as PCSK9 which is the result of 2 mutations on the gene.

Because of this “super-human” pharmaceutical corporations could study her and develop cholesterol-lowering drugs.

Dietrich Stephan, human geneticist for the University of Pittsburgh, commented on the study, saying: “[It] is sort of a wonderful reversal of the way we’ve been looking at Mendelian disease for the past 30 years. [The researchers] went through this whole triage process to ensure that these people had mutations for really nasty diseases that are obvious in adulthood, and they built a very convincing case that says that if these people had these diseases, we would know about it.”

Conversely, Andrew Wilkie, expert in Pfeiffer syndrome and geneticist for the University of Oxford, said he was “a bit surprised [this study] got into Nature Biotechnology” because the implications [for Pfeiffer syndrome] are quite clearly over-hyped.”

Wilkie explained: “Despite having the mutation mentioned in the study, some members of the same family never develop symptoms. That means that the Pfeiffer syndrome mutation doesn’t meet the researchers’ requirement for a genetic variant that unambiguously causes a disease.”

In addition, Wilkie points out that “the researchers couldn’t verify their own findings by contacting the 13 individuals”; however because not all participants signed consent to be re-contacted forms, the researchers could not verify their findings with the persons involved.

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