Working together against rare diseases To ensure that patients with rare diseases can count on the right care everywhere in Europe, the European Commission created the Reference Networks in 2017. These ERNs are now also increasingly active in research and education and have achieved a central position in the academic world. Also at Amsterdam UMC, where 2 of the 24 networks are coordinated.
Genomic Study Reveals Causal Link Between PTSD and Cardiovascular Disease, Offering New Insights for Prevention and Treatment Those with posttraumatic stress disorder (PTSD) are at increased risk of cardiovascular diseases. Why this is, remains unknown. Researchers from Amsterdam UMC and Yale University analysed the genomic data of more than a million individuals and found a shared genetic predisposition for both PTSD and cardiovascular disease. Further, they found strong evidence that PTSD causally increases the risk of cardiovascular diseases. This study is published today in Translational Psychiatry.
Hormone therapy reshapes the skeleton in transgender individuals who previously blocked puberty Skeletal size may be altered by gender-affirming hormone therapy only if puberty has also been suppressed during adolescence, according to research presented at the 62nd Annual European Society for Paediatric Endocrinology Meeting in Liverpool. The findings from this research, carried out by Amsterdam UMC, not only help researchers further understand the roles sex hormones play on the skeleton but may also improve counselling on gender-affirming treatment in transgender individuals.
Study quantifies impact of rapid first shock after cardiac arrest It is well known that acting quickly in the event of a cardiac arrest is important, but what does a quick initial shock with a defibrillator mean exactly for patients' chances of survival? Researchers from Amsterdam UMC analysed the data of 3723 patients who had a cardiac arrest outside the hospital and concluded that for the first shock, every minute reduces the chance of survival by 6%. The results of this research were published in the journal Circulation.
Phase Two results with CRISPR-Cas9 gene editing support further development as treatment for hereditary angioedema A single treatment with, a CRISPR-Cas9 based gene editing therapy, is enough to replace the daily medication of patients with hereditary angioedema (HAE), a condition characterized by severe, painful and sudden onset of swelling, sometimes resulting in death. Confirming the findings published earlier this year from researchers from Amsterdam UMC, the University of Auckland and Cambridge University Hospitals NHS Foundation Trust. This phase two study is published today in the New England Journal of Medicine and presented at American College of Allergy, Asthma & Immunology's annual congress on the 26th of October.
Predicting epilepsy after rare stroke Researchers from 15 countries, led by Amsterdam UMC, have developed a way to predict which patients are at risk of epilepsy after a cerebral venous sinus thrombosis (CVT). CVT is a type of stroke that typically affects women between the ages of 20 and 50. The prediction model is now available worldwide free of charge and research it is based on is published in JAMA Neurology.
Genetic background of pregnant women can influence the result of the Non-Invasive Prenatal Test Non-Invasive Prenatal Tests (NIPTs) are increasingly an integral part of screening during pregnancies across the world. Research from Amsterdam UMC shows that a pregnant woman's genetic background influences the effectiveness of the test. Data from over 140,000 administered tests in the Netherlands shows that a specific genetic variant, carried by about 7% of women in The Netherlands, increases the odds of inconclusive results and impairs the sensitivity of NIPT. These results are published today in Cell Reports.
Mental health issues are a common phenomenon in elite sport Nearly three-quarters of Dutch elite athletes and forty percent of their coaches report sport-related distress. This is one of the findings from a study conducted by Amsterdam UMC together with NOC*NSF, the organisation which represents the Dutch Olympic Committee and the Dutch Sport Federation, published today in BMJ Open Sport & Exercise Medicine.
Creating an environment where everyone can reach their full potential Firmly based on the scientific insights we gained about human health, fueled by our moral ambition to contribute to society through science, Amsterdam UMC wants to take responsibility as the biggest academic medical center in the Netherlands, to contribute to an international movement that takes the interests of future generations into account. In order to facilitate this, Amsterdam UMC appointed this year its first Future Generations Commissioner, Tessa Roseboom, professor of Early Development and Health.
A step forward in the battle against MRSA Staphylococcus aureus, mostly known from its antibiotic-resistant variant Methicillin-resistant Staphylococcus aureus (MRSA), is among the leading causes of both community- and hospital-acquired infections. According to the most recent data, MRSA killed around 120,000 people in 2022 globally and far more are killed by antibiotic-susceptible strains of S. aureus. So far however, all attempts at developing a protective vaccine for S. aureus have been unsuccessful. Research from Amsterdam UMC, in collaboration with UMC Utrecht, Leiden University, and the University of California, San Diego, have discovered an important immune component that offers protection against infection, suggesting a new direction for the future. These results are published today in Cell Reports Medicine.
