Search for: "genetic disease" - 250 articles found

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Anastasia Khvorova, PhD

Pioneering work in the field of RNA-based therapies for Huntington's disease

RNA researcher Anastasia Khvorova, PhD, professor of RNA therapeutics at UMass Chan Medical School, will receive this year's Else Kröner Fresenius Prize for Medical Research on May 15, 2025. The award ceremony will be a part of the festive event together with the Fresenius SE & Co. KGaA celebrating the 100th birthday of Else Kröner, at the Städel Museum in Frankfurt am Main.

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Article • Promising, but in need of further validation

Implementation challenges of blood biomarkers for Alzheimer’s disease

Blood-based biomarker (BBB) tests may represent the best weapon to combat the soaring rates of Alzheimer’s disease (AD) throughout the world. Existing clinically validated tests are currently deployed to facilitate diagnosis, to monitor disease and effectiveness of treatments, to quantify progression, and to determine if a patient is appropriate for treatment or participation in a clinical…

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News • Gene Therapy

Innovative gene therapy for hemophilia

Until now, those affected have had to inject the missing coagulation factor proteins themselves several times a week. Gene therapy now offers those affected the prospect of an improvement: the therapeutic agent is administered as a single intravenous injection.

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Article • Photon-counting CT, strain imaging, 4D flow MRI

How new technologies shape the future of cardiovascular radiology

New approaches to cardiovascular radiology are evolving to help clinicians gain an increasingly better insight into heart conditions. Latest developments in cardiovascular radiology include myocardial strain imaging, 4D flow and photon-counting CT technology. An ECR 2024 session shone the spotlight on these areas of cardiovascular imaging with expert speakers outlining the pros and cons of each.

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Article • Interdisciplinary diagnostics

Crossing the radiology-pathology boundary

In diagnostics, there used to be a hard divide between radiology and pathology, where methods were largely considered incompatible with one another. However, to pave the way for next-generation diagnosis, Professor Regina Beets-Tan urged both sides to come out from their trenches and appreciate the synergies the fields have to offer. In her presentation at the European Congress of Radiology (ECR)…

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Article • Joint action

A pan-European effort to tackle cancer and NCDs

This February, the Norwegian Institute of Public Health officially launched the ‘Joint Action on cancer and other non-communicable disease prevention project‘ (JA PreventNCD). In the four-year-initiative, 22 EU member states plus Iceland, Norway and Ukraine have joined forces to combat the increasing burden of non-communicable diseases (NCDs) across national borders.

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Article • Knowledge gaps in gender medicine

Covid-19 and sex: higher mortality of male patients

The Covid-19 pandemic has affected scientific research in numerous ways – for example by highlighting knowledge gaps in gender medicine. In many studies differences in morbidity and mortality between women and men surfaced incidentally. While the extent and causes of these differences remain largely unexplored, the preliminary insights confirm the need for further research.

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Article • Infection control

The strain typing technologies of tomorrow

Cedars-Sinai Medical Center, a non-profit hospital and medical research institution in Los Angeles, is setting new standards for quality and innovation in patient care by successfully introducing typing of Candida auris species – a procedure that could prove crucial in protecting patients from infection outbreaks caused by these microbes in healthcare settings.

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News • Promising application of "gene scissors"

Using CRISPR-Cas9 to treat anaemia

ETH Zurich molecular biologist Mandy Boontanrart is researching gene therapies that could be used to cure two of the most common types of inherited anaemia: beta thalassaemia and sickle cell anaemia.

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News • Promising reseach results

Using artificial DNA to kill cancer

Researchers at the University of Tokyo have used artificial DNA to target and kill cancer cells in a completely new way. The method showed promising results against various cancers in lab tests on mice.

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Article • Infection prevention

Vaccination: why ‘positive consensus’ is crucial

Vaccination projects across the world are at a pivotal post-Covid moment, according to one of the leading experts in the field. Speaking to Healthcare in Europe ahead of the World Innovation Summit for Health (WISH) congress in Qatar – where vaccination will be a central topic – Dr Jerome Kim said there is an urgent need to regain a ‘positive consensus’ around the value of vaccines. He…

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Article • Preventing clinical errors

Supporting transgender health in the clinical laboratory

Clinical laboratories need to be proactive to attract transgender patients for testing and to ensure that they are comfortable with the services provided. This issue is of great importance to the American Association for Clinical Chemistry (AACC), which conducted a scientific session on transgender health at its recent annual meeting in Chicago.

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News • Fibrodysplasia ossificans progressiva

FOP: Origin of rare disease

A mutation in the gene that causes fibrodysplasia ossificans progressiva (FOP) doesn’t just cause extra bone growth but is tied to a problem in generating new muscle tissue after injury.

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Sponsored • DNA extraction chemistry

Providing innovative molecular workflows to empower future diagnostics

Founded in 2018 as a DNA extraction chemistry company, Dutch company MolGen entered the market operating within the agricultural sector. At first, the company’s founders, Maarten de Groot, Wim van Haeringen and Niels Kruize, focused solely on this one industry, mainly developing and marketing advanced bulk chemistry kits for DNA/RNA extraction. These testing products and solutions successfully…

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News • Chemotherapy approach

New receptor insights might leave cancer bitter

Bitter taste receptors do not only support humans in tasting. They are also found on cancer cells. A team led by Veronika Somoza from the Faculty of Chemistry at the University of Vienna and the German Leibniz Institute for Food Systems Biology at the Technical University of Munich has investigated the role they play there. For this purpose, the scientists compiled and evaluated extensive…

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News • Relapse research

Multiple myeloma: Tracking down resistant cancer cells

In multiple myeloma, a cancer of the bone marrow, relapse almost always occurs after treatment. Initially, most patients respond well to therapy. However, as the disease progresses, resistant cancer cells spread in the bone marrow, with fatal consequences for the patients. Scientists at the German Cancer Research Center (DKFZ), Heidelberg University Hospital (UKHD) and the National Center for…

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News • DNA analysis

Should all babies have their genome sequenced at birth?

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…

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Article • New EU regulation

Lab tests: Watch out! Conflict ahead

In May 2022 a shortage of several lab tests may come as many manufacturers struggle to comply with EU regulation requirements covering in vitro diagnostic medical devices (IVDR, Regulation (EU) 2017/746). Even modified tests and laboratory-developed tests will present a problem for hospitals and labs as explained by Dr Thomas Streichert.

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News • 'CRyPTIC' research

Global tuberculosis study identifies genetic causes of drug resistance

Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments. The Comprehensive Resistance Prediction for Tuberculosis International Consortium (CRyPTIC) research project has collected the largest ever global dataset of clinical M.…

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News • Coronavirus inhibition

Highly potent antibody against SARS-CoV-2 discovered

Scientists at Lausanne University Hospital (CHUV) and École polytechnique fédérale de Lausanne (EPFL) have discovered a highly potent monoclonal antibody that targets the SARS-CoV-2 spike protein and is effective at neutralizing all variants of concern identified to date, including the delta variant. Their findings are published in the journal Cell Reports.

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Article • Mass spectrometry goes handheld

A pen to pin down the fringes of cancer

Mass spectrometry – a powerful tool for analysing the molecular composition of a tissue sample – is invaluable during cancer surgery. However, mass spectrometers are complex and unwieldy, and certainly a poor fit for an operating room (OR). To create a bridge between the lab and OR, Professor Livia S Eberlin, from Baylor College of Medicine, has developed a very special ‘pen’.

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News • For discoveries of receptors for temperature and touch

Nobel Prize in Medicine goes to David Julius and Ardem Patapoutian

The Nobel Prize in Physiology or Medicine 2021 was awarded jointly to two scientists who made important discoveries regarding our receptors for temperature and touch. Our ability to sense heat, cold and touch is essential for survival and underpins our interaction with the world around us. In our daily lives we take these sensations for granted, but how are nerve impulses initiated so that…

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Sponsored • Demand for molecular LIMS increases

Lab interoperability is essential

Fast, flexible laboratory information management systems (LIMS) that cope with data and workflow complexities of molecular and genetic testing now work in laboratories internationally. Here, in the first in a new Lab Pinnacle Series, experts from the CliniSys Group, Sunquest Information Systems and Data Innovations (all owned by Roper Technologies), discuss the value of a LIMS in molecular and…

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News • Promising algorithm

AI tool improves breast cancer imaging accuracy

A computer program trained to see patterns among thousands of breast ultrasound images can aid physicians in accurately diagnosing breast cancer, a new study shows. When tested separately on 44,755 already completed ultrasound exams, the artificial intelligence (AI) tool improved radiologists’ ability to correctly identify the disease by 37 percent and reduced the number of tissue samples, or…

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