The new catalog, openly available, has samples of the genome of more than 140,000 people, more than twice the number of the largest data set known to date.
Although the structure of DNA was discovered 67 years ago and the first map of the human genome was introduced 17 years ago, the function of most of the genes making it up is still unknown. The waves of optimism that resulted from each of those findings have slowed down, but science continues to move forward, modestly but with a steady pace.
Moreover, the first set of analyses of the largest known database of human genetic variations has just been released, distributed across seven reports by the prestigious journal Nature, which in 1953 published the first of the aforementioned milestones.
The new catalog has samples of the genome of more than 140,000 people, more than twice the number of the largest data set known to date. The first set of published analyses converges to a path that aims to facilitate the development of new treatments and helps to better understand various genetic diseases, from the most odd to the most common ones.
The Genome Aggregation Database (gnomAD)
In addition, the so-called Genome Aggregation Database (gnomAD) is openly available to researchers from around the world, which might increase both the information it contains and the studies derived from it.
“The most immediate application of databases like gnomAD will be to help us interpret sequenced genomes in the context of a study or clinical trial. This is an important part of personalized medicine, but it is only the beginning,” Deanna Church pointed out cautiously. Deanna, researcher at Inscripta is the author of a review in Nature accompanying the seven studies published by this journal as well as by two of its affiliate journals, Nature Medicine and Nature Communications.
“The pathway to new drugs is a long one,” Church stated. “Although resources like this one can help identify new candidates.”
In the main report, which reviews the general state of the matter, Konrad Karczewski, from MIT and Harvard’s Broad Institute, and a large international group of experts presented a catalog of genetic variables that could help identify mutations that cause serious diseases, as well as new diagnosis and treatment techniques.
“GnomAD is not only a catalog, but also a way to learn about genetic variants and genes. This is especially important for the development of drugs and for determining the effectiveness and safety of potential treatments,” Karczewski told to EL MUNDO.
A promising way
In total, 443,769 of the so-called function-loss variants have been identified in the database, which the authors consider a promising way to contribute to the biological and clinical knowledge of our species.
“Simply put, function-loss variants inactivate a gene. Typically, we all have two copies of each gene, one inherited from your father and one inherited from your mother,” Karczewski explained. “A few years ago, we discovered that these variants are commonly spread across the population, and everyone has about 20 genes lacking both copies and 100 genes lacking one copy,” Karczewski added.
“Many of these completely missing genes are the same among many individuals, and they lack interest from a clinical viewpoint, although they can affect traits such as taste and smell. But in extremely rare cases, they can lead to serious illnesses,” Karczewski pointed out.
The idea is to use the information on this kind of variants to help tailor precise genetic patient profiles, as well as to identify which genes could be safely targeted by the treatments.
For example, one of the reports published this Wednesday shows that “a promising therapeutic target for Parkinson’s disease can be put in humans without any serious side effects, which supports the safety of the drugs that target it.” Karczewski added.
Link: https://www.elmundo.es/ciencia-y salud/ciencia/2020/05/27/5ece795afdddffc5bd8b45f9.html
Date: May 27th, 2020
By: Ángel Díaz
Nutrigenomics Institute is not responsible for the comments and opinions included in this article