Researchers sequenced the entire genomes of 2,636 Icelanders and gained useful insights into how human genes evolve and mutate
Over the past 15 years, Iceland has managed to be at the forefront of genetic research tied to personalized medicine and new biomarkers for diagnostics and therapeutics. This is true because, as most pathologists know, Iceland has a small population that has seen little immigration over the past 1,000 years, along with a progressive government and business community.
The relatively closed society of Iceland makes it much easier to identify genetic sequences that contribute to different diseases. The latest example of such research findings comes after the genomes of 2,636 Icelanders were sequenced. In addition to this being the world’s largest-ever study of the genetic makeup of a single population, the findings suggest a strategy for analyzing the full-spectrum of genetic variation in a single population.
The advent of the CRISPR/Cas9 genetic editing tool is already generating novel therapies for diseases and will create new opportunities for pathologists and medical laboratories
In just 24 months, a new gene-editing tool has become the hot topic worldwide among researchers working to understand DNA and develop ways to manipulate it for therapeutic purposes. It goes by the acronym CRISPR and it may soon become quite familiar to most pathologists and medical laboratory scientists.
CRISPR stands for clustered regularly interspaced short palindromic repeats. The gene editing platform is known as CRISPR/CAS9. (more…)
Researchers at Penn State identified 160,000 ‘transcription initiation machines’ throughout the human genome
DNA “dark matter” may have something in common with comedian Rodney Dangerfield, who liked to say, “I don’t get no respect!” As many pathologists know, for years the human exome that has been the focus of most research. This is the 1% of the human genome that contains the genes that produce proteins and do other useful functions.
Meanwhile, the remaining 99% of the human genome—sometimes called “junk DNA” and generally known as dark matter—got relatively little attention from researchers. But that is changing. At Pennsylvania State University, a research team has discovered that coding and noncoding RNA, or genomic dark matter, originates at the same types of locations along the human genome.