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Almost a hundred experts from 27 countries took part in a hackathon on June 17–18 to identify diseases in 14 patients lacking diagnoses. “Four of them have now received an answer and we’re confident that more are to come,” says professor and consultant Ann Nordgren, who was one of the organizers of the event.

Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability. The study, published in Scientific Reports, shows that the costs when using whole genome sequencing as a first-line diagnostic test were lower compared to chromosomal microarray analysis.

Researchers at Karolinska Institutet shows in a new study that genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability. These findings are published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics, ACMG.

Researchers from Karolinska Institutet have analysed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes and that the level of the genetic variant is higher in sperm than in blood.  The study was recently published in Molecular Genetics & Genomic Medicine.

On November 24, H.M. Queen Letizia of Spain, H.M. Queen Silvia and H.R.H. Crown Princess Victoria Karolinska Institutet and Karolinska University Hospital.

Congratulations to five researchers at the Department of Molecular Medicine and Surgery who received funding from the Swedish Research Council within the field Medicine and Health at the dividend on October 28, 2021.

The government is set to invest through the innovation authority Vinnova another SEK 96 million on Genomic Medicine Sweden (GMS), a national organisation led from Karolinska Institutet. Regions and universities are also putting up SEK 124 million, making a total of SEK 220 million that will make it possible to continue introducing precision medicine into Swedish healthcare.

Liver transplantation is currently the only treatment available for the severe liver disease PSC. Now, however, researchers at Karolinska Institutet and Oslo University have discovered the first reported genetic mutation that causes PSC. The study, which is published in Science Translational Medicine, opens new paths to future treatments.

Researchers from Karolinska Institutet and Gothenburg University have investigated a potential new drug target for the rare genetic disorder Hutchinson-Gilford progeria syndrome that causes accelerated aging in children. The findings in mice are published in the scientific journal eLife and may aid in the development of more effective treatments for this fatal condition.

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.