News archive

Evaluating the genetic correlations across our phenotypes is of essential importance for understanding disease etiology and other potential causality. The new method – published in the journal Nature Genetics – vastly improves our power in estimating genetic correlations using the huge established resources from genome-wide association studies.

Decades-long endurance training alters the activity of genes in human skeletal muscle that are important for metabolic health. This is according to a new study published in the journal Cell Reports by researchers at Karolinska Institutet in Sweden and the University of San Diego in the U.S. Sex differences found in untrained individuals were also dramatically reduced with long-term training. The results may have implications for metabolic disease prevention.

Researchers at Karolinska Institutet have discovered that excessive degradation of the power plants of our cells plays an important role in the onset of mitochondrial disease in children. These inherited metabolic disorders can have severe consequences such as brain dysfunction and neurological impairment. The study is published in EMBO Molecular Medicine.

A new study has been initiated to evaluate whole-genome and RNA-sequencing as a first line diagnostic approach for patients in Sweden with acute leukemia. The study is conducted jointly by the national R&D platform Genomic Medicine Sweden and the biotech company Illumina – and is coordinated from Karolinska Institutet.

One in three women in Europe inherited the receptor for progesterone from Neandertals – a gene variant associated with increased fertility, fewer bleedings during early pregnancy and fewer miscarriages. This is according to a study published in Molecular Biology and Evolution by researchers at the Max Planck Institute for Evolutionary Anthropology in Germany and Karolinska Institutet in Sweden.

Researchers at Karolinska Institutet and the University of North Carolina have mapped out the cell types behind various brain disorders. The findings are published in Nature Genetics and offer a roadmap for the development of new therapies to target neurological and psychiatric disorders. One interesting finding was that cells from the gut's nervous system are involved in Parkinson's disease, indicating that the disease may start there.

Twin Research and Human Genetics has just published an overview article of the Swedish Twin Registry (STR). The registry has developed into an infrastructure of broad utility, aiming to provide a resource for epidemiological and molecular studies of twins.

Twelve researchers at Karolinska Institutet qualify for the annual list of highly cited researchers compiled by Web of Science.

Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods of genetic analysis, researchers at Karolinska Institutet report in the scientific journal Genome Medicine. Whole-genome sequencing using analytical tools developed by the researchers will now be introduced for first-line clinical diagnosis at Karolinska University Laboratory in Sweden.

Jesper Eisfeldt from the research group Rare Diseases will defend his thesis "Characterization of structural chromosomal variants by massively parallel sequencing" on November 8th, 2019. Main Supervisor is Anna Lindstrand.

Researchers at Karolinska Institutet in Sweden have uncovered a chromosome-wide mechanism that keeps the gene expression of sex chromosomes in balance in our cells. The findings shed light on molecular reasons for early miscarriage and could be important for the emerging field of regenerative medicine. The study is published in Nature Structural and Molecular Biology.

Researchers have developed a new variant of the gene editing technique CRISPR-Cas9 that has the potential to increase precision during gene therapy in humans. The new variant reduced unintended changes in DNA compared to its wildtype, suggesting it could play a role in gene therapies that require high precision. The study by researchers from Karolinska Institutet’s Ming Wai Lau Centre of Reparative Medicine in Hong Kong is published in the journal PNAS.

Researchers at Karolinska Institutet have taken part in the largest study to date on the genetic risk factors for multiple sclerosis (MS). The study, which is published today in the journal Science, corroborates earlier studies and provides new clues as to what causes this neurological disease. The resulting map will prove a vital resource for future researchers and could one day lead to new, more potent drugs.

People – or more specifically just Swedes – are more like chimpanzees than previously known. This is indicated in a genetic mapping of one thousand Swedish individuals, where new DNA sequences that should be included in the reference genome have been identified. The study is published in the scientific journal Molecular Biology and Evolution.

Title: Socioeconomic influences on late-life health and mortality : exploring genetic and environmental interplay 

Genes cannot be used to determine an individual’s sexual orientation. A study published in the journal Science found only five out of hundreds of thousands genetic variants occurred somewhat more often in people who had had same-sex partners. This suggests human sexuality is influenced by a complex mix of genetic and environmental factors, according to the researchers. The study is based on data from the UK Biobank, the U.S. company 23andMe and the Swedish Twin Registry at Karolinska Institutet.

Using puzzle pieces from four different DNA analyses, researchers at Karolinska Institutet have been able to map three extremely complex chromosome aberrations. This has given families answers about the cause of their children’s serious symptoms. The study was published in the scientific journal PLOS Genetics and the goal is to produce a test to be used in the clinic.

Most researchers will never come close to winning a Nobel Prize. But some are fortunate enough to work with one of the 200 or so living Nobel legends of the research world. In the magazine Medical Science no 4 2018, there is a news article where three KI researchers are interviewed about their collaborations.

Scientists at Karolinska Institutet in Sweden and University of North Carolina, USA, have identified the cell types underlying schizophrenia in a new study published in Nature Genetics. The findings offer a roadmap for the development of new therapies to target the condition.

The failure of drugs such as SSRIs, used to treat depression, can be a result of genetic variations in patients. Variations within the gene that encodes the CYP2C19 enzyme results in extreme differences in the levels of escitalopram achieved in patients, according to a new study published in The American Journal of Psychiatry. Prescribing the dose of escitalopram based on a patient’s specific genetic constitution would greatly improve therapeutic outcomes.

This year’s Nobel Prize in Physiology or Medicine has been awarded for work dedicated to the connection between celestial body movements and molecular fluctuations in our cells. Or, in simpler terms, to our internal biological clocks, also known as our circadian rhythm.

Researchers have been able to demonstrate the hereditary nature of certain forms of tinnitus. Bilateral tinnitus – that is, tinnitus in both ears – has been shown to depend on genetic factors, particularly in men. The twin study, which is published in the journal Genetics in Medicine, was conducted by researchers at Karolinska Institutet together with colleagues from GENYO in Granada, Spain, as part of the European research network TINNET.