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Some high-cholesterol genes differ between countries -


Estonia is using its citizens’ genes to predict disease

“The genetic risk score will be just another tool for doctors. In addition to measuring cholesterol levels, blood pressure, and body mass index, the genetic risk score will be yet another measurement that our prediction algorithm can use,” says Milani. She explains that they’ve already piloted a number of diseases to be diagnosed  by the algorithm, but this currently takes place at the biobank, not in the doctor’s office. “For the genetic information to be used in everyday practice we need to undertake pretty extensive IT developments — which we’re actually starting now. We’re launching the development of automated decision support software for physicians. So when doctors enter various patient data — such as cholesterol level, blood pressure, and smoking status — in the system, then the genetic risk will be calculated by the algorithm, and it’ll provide specific guidance accordingly.” She adds that the final product will be owned by the government, or to be more specific, by the citizens of Estonia.

Gut bacteria may be linked to high blood pressure and depression -- ScienceDaily

The researchers isolated DNA (deoxyribonucleic acid, the carrier of genetic information) from gut bacteria obtained from the stool samples of 105 volunteers. They used a new technique involving artificial-intelligence software to analyze the bacteria, which revealed four distinct types of bacterial genes and signature molecules. Surprisingly, the investigators discovered unique patterns of bacteria from people with 1) high blood pressure plus depression; 2) high blood pressure without depression; 3) depression with healthy blood pressure; or 4) healthy subjects without depression or high blood pressure.

Jogging and five other exercises ward off weight gain despite 'obesity genes' -- ScienceDaily


Hippocampus and memory development








Ancient DNA suggests that some Northern Europeans got their languages from Siberia -- ScienceDaily

"Studying ancient DNA makes it possible to pinpoint the moment in time when the genetic components that we see in modern populations reached the area since, instead of predicting past events based on modern genomes, we are analyzing the DNA of individuals who actually lived in a particular time in the past," Saag explains. Their data suggest that the Siberian ancestry reached the coasts of the Baltic Sea no later than the mid-first millennium BC -- around the time of the diversification of west Uralic/Finnic languages. It also indicates an influx of people from regions with strong Western hunter-gatherer characteristics in the Bronze Age, including many traits we now associate with modern Northern Europeans, like pale skins, blue eyes, and lactose tolerance. "The Bronze Age individuals from the Eastern Baltic show an increase in hunter-gatherer ancestry compared to Late Neolithic people and also in the frequency of light eyes, hair, and skin and lactose tolerance," Tambets says, noting that those characteristics continue amongst present-day Northern Europeans.

Schizophrenia: 30 genes under suspicion -- ScienceDaily

Alex Schier's team has now identified 30 genes in these regions and has been able to show that they have concrete effects on the structure and function of the brain as well as on various behavioral patterns. "Of the 132 suspects, we were ultimately able to establish a more precise perpetrator profile for 30 genes," said Schier. "One of the perpetrators is the transcription factor znf536, which controls the development of the forebrain. This brain region influences our social behavior and the processing of stress." The research team not only deciphered the function of the individual genes, but also generated an atlas of all genes with their respective consequences for the brain

Reference genome is threatening dream of personalized medicine - STAT

On March 23, 1997, the then-nascent Human Genome Project placed an ad in a newspaper in Buffalo, N.Y. (site of a project scientist’s lab), seeking volunteers to donate blood from which they would sequence DNA. Through a quirk of whose DNA got processed when, about 70 percent of the reference genome comes from an anonymous man designated RP11, said UW genome scientist Evan Eichler, with the rest from a few score other volunteers. The reference genome is therefore a mashup of the sequences of these everyday people. As a result, it isn’t a perfectly healthy genome: It has at least 3,556 variants that increase the risk of diseases, including type 1 diabetes and hypertension. Its most serious shortcoming, however, reflects the fact that 1990s Buffalo was not exactly the United Nations. Its ethnic populations are almost all European — German, Irish, Polish, and others. The reference genome, therefore, is as well. That had long been known, but was largely swept under the rug.

Reference genome is threatening dream of personalized medicine - STAT


Serotonin can regulate gene expression inside neurons -- ScienceDaily


What controls the tips of our chromosomes? -- ScienceDaily

The researchers also showed that this process is identical both in yeast and in human cells. This means that the regulation of the "S" component has been conserved throughout evolution of species, which somehow reveals the importance of this process for the correct functioning of cells. This opens new avenues to the discovery of therapies capable of dealing with debilitating diseases associated to defects in telomeres. "The unanticipated role of this evolutionary conserved phosphatase is reminiscent of the regulation of the cell cycle by phosphatases that counteract the role of kinases, thus re-establishing the ground state of 'once and only once' cell cycle processes," says the investigator Miguel Godinho Ferreira. "With this work, we now understand better how telomere regulation works, a key process in cancer and ageing," says Jose Escandell, first author of the publication.

How genetic background shapes individual differences within a species: Every genome is different and scientists are beginning to understand what this means for life of an organism -- ScienceDaily

With all this information, Hou was able to scan the genomes of all 1000 yeast isolates and accurately guessed which other strains will act like Sigma or the Sake yeast and be completely reliant on the CYS genes to survive. This is similar to being able to single out, from 1000 patients with the same genetic disorder, those individuals who have a higher chance of developing a more severe form of disease.

Fat cells work different 'shifts' throughout the day -- ScienceDaily

During this unique study seven participants underwent regulated sleep-wake cycles and meal times before entering the laboratory, where they maintained this routine for a further three days. Participants then experienced a 37- hour 'constant routine' during which time they did not experience daily changes in light-dark, feed-fast and sleep-wake cycles. Biopsies of fat tissue were taken at six hourly intervals and then followed by an analysis of gene expression. Researchers identified 727 genes in the fat tissue that express their own circadian rhythm, many carrying out key metabolic functions. A clear separation in gene rhythms was identified with approximately a third peaking in the morning and two thirds in the evening.

Could we soon be able to detect cancer in 10 minutes? | Science | The Guardian

Looking for ctDNA has become a viable proposition in recent years because of improvements in DNA sequencing technologies that make it possible to scan fragments and find those few with alterations that may indicate cancer. While other blood-based biomarkers are being investigated, the advantage of ctDNA is that, because it has a direct link to the tumour, it can be very specific at identifying cancer. For that reason, ctDNA is also showing promise as a way to profile and monitor advanced stage cancers, a “liquid biopsy”. Early detection is a harder problem. Early on, when the tumour is small, there is not as much ctDNA to detect. The women Illumina identified as having cancer were all late, not early stage.

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated | Genetics in Medicine

Until very recently, the fragmented distribution of patients across institutions hindered the discovery of new rare diseases. Clinicians working with a single, isolated patient could steadily eliminate known disorders but do little more. Families would seek clinicians with the longest history and largest clinic volume to increase their chances of finding a second case, but what does a physician do when N = 1 or if the phenotype is inconsistent across patients? These challenges are driving an increase in the use of NGS. Yet this technological advance presents new challenges of its own. Perhaps the most daunting, in our opinion, is the inability to share sequencing data quickly and universally. Standards and bioinformatic tools are needed that allow for a national repository where families or scientists can bring clinical results and NGS data for comparison. This challenge can be circumvented by tools already created for and by the Internet and social media.

Your genes could impact the quality of your marriage: Specific genes relevant to how partners provide and receive support from each other -- ScienceDaily


Male Y chromosomes not 'genetic wastelands' -- ScienceDaily

Using sequence data generated by new technology that reads long strands of individual DNA molecules, Chang and Larracuente developed a strategy to assemble a large part of the Y chromosome and other repeat-dense regions. By assembling a large portion of the Y chromosome, they discovered that the Y chromosome has a lot of duplicated sequences, where genes are present in multiple copies. They also discovered that although the Y chromosome does not experience crossing over, it undergoes a different type of recombination called gene conversion. While crossing over involves the shuffle and exchange of genes between two different chromosomes, gene conversion is not reciprocal, Larracuente says. "You don't have two chromosomes that exchange material, you have one chromosome that donates its sequence to the other part of the chromosome" and the sequences become identical.

Myriad Genetics to Acquire Counsyl for $375M | GenomeWeb








