Showing posts with label fine mapping. Show all posts
Showing posts with label fine mapping. Show all posts

Tuesday, September 27, 2016

Mass Genetic Analysis Links to Risks of Heart Disease and Possibly More

           With the advent of studies in genetics, there have been many long lasting implications. For example, genetics as offered us insight into many genes that we can concur cause certain diseases. This application of genetics has been one of the most prominent features of genetic analysis. Even today, more and more genes are being linked to the possibility of disease formation. For instance, scientists from the Welcome Trust Sanger Institute were able to identify 17 rare human gene variations that are connected to risk factors that could lead to cardiovascular disease and diabetes. These risk factors could be anything from increased levels of cholesterol or even issues of the hemoglobin in blood.
           
             Interestingly enough, this study on identifying the 17 gene variants would not have been possible without the aid of the UK10k Project which was a study of 10,000 individuals and their genetic code. Researchers then utilized a technique that is called “Fine Mapping” to study various regions in the Human Genome that contain risks for cardiovascular disease. From there, researchers narrowed down the 17 gene variations that give the most risk for cardiovascular issues. Even though it may seem like researchers are only in the discovery process of genetic analysis, there are long last implications at play. Once researchers are able to isolate and determine what it is these genes do, medical therapies can be formulated, tested, and hopefully be used clinically. Before you can truly combat a disease, you have to find what it is that is causing it, even at such a small level of the human body.
            Although focused primarily on cardiovascular issues, this same way in which genes are analyzed can soon hopefully be applied to locate other genes correlated with other diseases. I believe that these mass genetic analyzes can help revolutionize medicine. 
(https://www.sciencedaily.com/releases/2016/09/160926115115.htm)

Monday, March 16, 2015

Diabetes Research Boosts


     A research team has narrowed down and located the genes that play a role in diabetes.  This detection is a huge advancement in the study of who potentially will develop Type 1 diabetes and how to prevent this disease.  Type 1 diabetes is when the body's immune system kills off insulin producing cells in the pancreas.  Roughly 3 million people in the United States have this disease.  
     The team gathered information about the genetic makeup of 27,000 people.  This study included individuals with Type 1 diabetes and others who did not.  They began looking for differences in DNA by starting with 200,00 possible locations in the genome.  In order to do this the researchers used a technique called fine mapping which pinpoints DNA sequence variations.  In some genomic regions, they narrowed down the number of disease-causing DNA variations known as single nucleotide polymorphisms (SNPs) from the thousands down to five or less.  Now that the genes and SNPs have been targeted, diabetes research will advance dramatically. 
     These findings are highly significant to diabetes research.  Researchers can now shift their time away from trying to determine which gene heightens the risk and can now focus on how to treat and prevent Type 1 diabetes.