13 April 2016
Rare ‘genetic superheroes’ appear to somehow be resilient to the genetic mutations that they carry.
Mendelian diseases, such as sickle-cell anaemia or cystic fibrosis, are generally the result of a mutation in a single gene, passed along from parents to child. A new pilot study has identified subjects who are unexpectedly resilient to the genetic diseases that they themselves carry.
Taking an approach contrary to normal testing, the team behind the report, from the Icahn School of Medicine in Mount Sinai, New York deliberately looked for carriers of the diseases, who had not reported any symptoms.
The team screened samples of 589,306 genomes, from 12 separate genomic studies, in which they found 15,597 carriers with a range of inherited diseases. Through careful checking and by narrowing their search to look at particularly virulent diseases the team was able to identify 13 adults who, whilst harbouring a mutated gene, had not reported any of the symptoms of the disease it should cause.
Unfortunately, the team has been unable to confirm their results because they have not been able to contact those 13 disease-free adults as the consent forms that the participants completed did not include a re-contact clause. This lack of information highlights the need for robust consent gathering practices - without the contact information, the team is unable to verify their findings.