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Healthy, but with mutations

After looking for alterations directly associated with 584 serious childhood diseases in a group of 874 genes from almost 590,000 individuals, a group of researchers from the United States, Canada, Sweden and China found 13 people who stayed healthy despite carrying a mutation clearly linked to one of eight known pathologies, including cystic fibrosis, Pfeiffer syndrome and Smith-Lemli-Opitz syndrome (Nature Biotechnology, April 11, 2016).  Scientists do not know why these individuals have not developed the diseases normally caused by their mutations, and will use genomic data from the study participants to try and find some biological factor – alterations to other genes, perhaps – that could serve as protection against the manifestation of these illnesses.  In certain cases, the researchers say, they might reach the conclusion that the link between a mutation and a given disease is not as direct as once thought.  The study delved into a part of the genome of over a half million individuals, in search of alterations considered to be the cause of some Mendelian diseases that can manifest in childhood and are generally attributed to a mutation in a single gene.