Showing posts with label genetic disease risks. Show all posts
Showing posts with label genetic disease risks. Show all posts

Sunday, November 19, 2017

One in five 'healthy' adults may carry disease-related genetic mutations




A new study  has out together a first ever randomized clinical trial evaluating a whole new genome sequence in healthy people.  The evaluators had come to the conclusion of that the sequencing   of genomes  in healthy adults  there is  a chance of  one in five people being  risk marker for rare diseases or genetic mutations associated with cancers. The article goes to say how the it is beneficial because it is an advantage to study the implementation rather making assumptions without evidence. In the case study  there was an observation of 100 healthy adults who  reported their family to their primary care physician initially  and half were randomly assigned to undergo an additional full genomic workup. From here it was shown that there was 5 million subtle DNA sequence changes  from as  single nucleotide variants across 4600 genes, which from there resulted for jus t 59 genes to strongly expect to cause a disease. It was the 50 participants who genome that were sequenced 11 had at least one letter of DNA to a have a rare disease. Like one of the patients would was extremely sensitive to the sun. It was also sad the sequenced patients carried at least one recessive mutation linked to a disease. It goes to say how it could be beneficial for the healthcare system to use this technology but it a bit early to useful in the clinics. After reading this article I found it very interesting because after I was diagnosed with hypothyroidism and my doctor told me it is predisposed  because my mom had hypothyroidism  I did more research and read that this a increased of risk of a family member inheriting it too. I find it interesting and beneficial  because in the future it is beneficial  for reproductive decisions.  

Thursday, November 21, 2013

New Genetic Risk Factor Discovered for Schizophrenia and Bipolar Disorder

  

     A team from The Feinstein Institute for Medical Research have discovered a factor in NDST3 that is likely to lead to schizophrenia and bipolar disorder. The risk factor was isolated using DNA from scizophrenic individuals as well as healty adults. The variant changes only a single letter, but can lead to devastating psychiatric illness. Bipolar and schizophrenia have long been hypothetically linked, and this new discovery combined with others further strengthens that theory (see the second link below).

    These articles resonate with me, since an isolated case of schizophrenia occured in my ancestry. While no one in my immediate family is known to have the disease, it's nice to know that we will eventually be able to test for these defects in our progeny. They are serious conditions, so any insight into their origins and methods is cetainly useful.

http://www.sciencedaily.com/releases/2013/11/131119112815.htm
http://www.sciencedaily.com/releases/2013/08/130811150815.htm

Wednesday, November 6, 2013

HaploSeq: New DNA sequencing technology



 
      ScienceDaily has recently posted an article about a new technique in the world of science, known as HaploSeq. Researcher Bing Ren, Ludwig scientist at the University of California, San Diego School of Medicine led the team to discover the new technique for studying DNA sequencing. Current DNA sequencing tools are becoming faster and cheaper and soon everyone will have their genome sequenced, but there is one problem with it. Ren states that everyone has two copies of each chromosome (accept sex). One copy comes from the mom, and the other comes from the father. The problem is that current technological techniques do not have any way of distinguishing between the two copies of each gene, and are not good at determining whether particular genetic differences come from a person's mother or father. HaploSeq combines molecular biology and computational biology, which enables researchers to quickly determine which genetic variants occur together on the same chromosome, in turn coming from the same parent. This technique will allow clinicians to better asses a person's risk for disease, by enabling them to determine if the gene mutations of that disease (ex: cancer) are on the same chromosome or different chromosomes.

 
 
     Also, HaploSeq offers the opportunity to refine the process of determining whether there is a genetic match between an organ donor and recipient. Genes express a lot of variability and this technique could help researchers and scientists determine whether DNA differences between the donor and recipient are going to be a good match. Furthermore, HaploSeq will also assist researchers in analyzing human migration and determine ancestry from their DNA. This technique will allow each individual and how one relates to other individuals to be studied specifically. As the data accumulates worldwide, researchers will be able to precisely determine their relationships. Ren says this study will become a worldwide human genetic variation, in which will be called the HapMap project.
Overall this new technique of studying DNA sequences seems like a very promising study. It will not only help determine which parent a specific gene comes from, but it will also help with disease risks and allow people to find the ancestrial relations to other individuals. HaploSeq seems like a positive triple threat to me. I think it will do great for the furture.