2018-04-09 00:25:08
To try to find out if unknown genetic mutations could be the cause of some health problems without a clear diagnosis, or diseases with no known cause, a group of twenty-seven doctors and scientists from Vanderbilt University, located in Nashville, Tennessee, USA. , you decide to scan various medical databases looking for patients with symptoms that might be due to a genetic disease. The researchers analyze the symptoms of 21,701 patients, who they classify according to the degree of concordance with which their symptoms conform to the known symptoms associated with no less than 1,204 genetic diseases. Thus, each patient was assigned a risk score for suffering from one or another genetic disease according to its symptoms.
Next, taking into account the scores received, the genomic data of each patient were examined in search of gene mutations that could explain and cause the symptoms. The researchers find eighteen associations between gene mutations and the risk scores attributed to the patients. Four of these genetic associations were consistent with known causes of disease, but the rest involve mutations not yet known in various genes that eventually cause a genetic disease.
It is notable that, based on the data revealed by this analysis, only eight of the 807 patients who had a gene variant that could cause disease were correctly diagnosed. This was so despite the fact that most of these patients showed symptoms that were highly consistent with those of the genetic disease, although the gene to which their cause was attributed until this study was carried out lacked any mutation that could explain them. In addition, in most cases, if the disease had been well diagnosed, a treatment would have already been available to alleviate its symptoms and improve the state of health.
From a purely scientific point of view, the data revealed by this study shake up the classic concept of dominant genetic diseases and recessive diseases. In this way, the researchers maintain that genetic diseases cannot be classified only as dominant or recessive, and must be considered as located on a continuum, since, according to other environmental or genetic factors, a disease considered as recessive could manifest itself differently. anyway as at least partially dominant and generate some of the symptoms of the disease.
These interesting studies reveal the benefits of collecting and analyzing medical data using methods only made possible by new information technologies, and also by technologies for obtaining genomic sequences.
Referencia: L. Bastarache et al. (2018). Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 16 MARCH 2018 • VOL 359 ISSUE 6381, pp 1233.
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