This blog is intended to provide information to educate readers about molecular testing and genetic sample collection and DNA Genotek products. Some of the information on this blog represents emerging scientific research or data developed for research purposes only. More information here.
Welcome to The Genetic Link, a blog providing new insights into DNA and RNA sample collection by DNA Genotek. DNA Genotek is a subsidiary of OraSure Technologies, Inc.
Dr. Gerardo Jimenez Sanchez is a fundamental and prominent figure in the development and expansion of human genomics in Mexico. His accomplishments are equally impressive as they are extensive:
Obtaining DNA samples in sufficient numbers and in a timely manner can be a barrier to achieving statistical relevance for research studies. Maximizing recruitment means making sample collection easy and convenient for donors. Recently the Basser Research Center for BRCA at the University of Pennsylvania successfully used event-based collection to rapidly grow the number of participants in their research project.
Since the launch of The Genetic Link blog back in 2009, we’ve shared dozens of stories from the field highlighting remote DNA collections, innovative approaches to research, and unique event-based collections. Each of these stories was based on a research team searching for the gene or genes responsible for a particular disease or health condition. The story in this article is unique in that it highlights a project that is hoping to attract individuals who are willing to share their personal genome, health information and trait data for a broader application. The goal is to advance scientific progress by inviting willing participants to share their personal genetic data for the greater good.
We always enjoy hearing about how our customers are using our products for innovative projects. Recently, we learned about a new project in Germany called GeneTalk, which uses Oragene to collect DNA from saliva. GeneTalk is what many physicians and scientists working on human next generation sequencing (NGS) data sets have been waiting for. We know that NGS is an effective method for identifying rare disease causing variants associated with genetic disorders and as a valuable tool for diagnosing and treating many other diseases. The challenge in analyzing the sequence variants of a patient is to discriminate between all the variants without medical relevance and the mutations that actually have an impact on the disease. Many believe that a large database of exomes from healthy controls may help to create this benchmark and thus speed up the identification of the mutations causing genetic disorders. This is where GeneTalk comes in.
While reading a recent publication in the American Journal of Human Genetics Part B entitled DISC1 in Adult ADHD Patients: An Association Study in Two European Samples , I was immediately intrigued by the first sentence of the abstract: “The DISC1 gene was named after its discovery in a Scottish pedigree with schizophrenia (SCZ) patients.”  This inspired me to do a little background reading regarding the discovery of the DISC1 gene and, as it turns out, it’s a pretty interesting story. Therefore, for the third blog in our Genetics and Mental Health Series, I would like to tell you how this curious gene came to be associated with ADHD.
At the 2013 American Society for Human Genetics (ASHG) conference in Boston last month, we launched the first version of DNA Genotek’s Activity Calendar for science fanatics. We wanted to provide ASHG attendees who visited our booth a way to celebrate scientific achievement in a fun way. The end result is a glossy, full color, 13-month desk calendar that features a variety of puzzles, challenges and games. Each month includes an online challenge which must be completed to be entered into a draw for a 32GB Apple iPad Mini (Wi-Fi version).
Telomeres are an emerging area of genetic research with many new studies being published that highlight fascinating results. Telomeres reside at the end of each chromosome in our bodies. They have no genetic function and are simply stretches of DNA that protect the rest of the chromosome. However, these little bits of DNA, or telomeres, are critical to healthy cell function. They become shorter each time the cell divides. Telomere shortening means the cell’s lifespan is also decreasing. Recent research shows that decrease in telomere length plays an important role in human disease and mortality with many studies showing associations between shorter telomere length and various types of cardiovascular disease, cancer, osteoporosis, cognitive function, dementia, and arthritis. On the flip side, long telomeres are related to healthy aging and overall longevity.
Scott Rabuka is a senior product manager at DNA Genotek.
We are very excited to tell you about a new initiative we announced today as part of the DNA Genotek Helping Hands Program. Spit for Africa is a new sponsorship program in conjunction with the African Society of Human Genetics (AfSHG). Spit for Africa is designed to improve access and reduce the cost of DNA collection for locally and internationally funded genomic projects such as the Human Heredity and Health in Africa (H3 Africa) Initiative and to facilitate growth in membership of the AfSHG.
Early this year we offered a special $10,000 Award Program for sample processing and analysis through our GenoFIND Genomic Services offering. The amount of interest and the calibre of the responses we received exceeded our expectations so we decided to offer another AWARD program and to extend it to include not only genomic services but your choice of sample collection kits, sample preparation kits and/or GenoFIND Genomic Services.
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