Genetics

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News • Genetic signature mapping

Diagnosing Parkinson’s from a blood sample

In a world first, researchers have identified a set of biomarkers that could someday make it easy to spot Parkinson's disease in a patient’s blood sample.

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News • Machine learning analysis

Cancer genomics: new ML tool weeds out false positives

A major challenge in cancer genomics is separating meaningful mutations from false positives. A new tool uses machine learning to significantly reduce these errors.

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News • Promising protein analysis tool

New blood test to enable rapid diagnosis of rare genetic diseases

An Australian research team has developed a blood-based method of analysing thousands of proteins in a single, untargeted test. This potentially enables rapid diagnosis of many rare genetic diseases.

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News • Appeal for tailored care approaches

Breast cancer: Study reveals ethnic differences in development and outcomes

When it comes to breast cancer, ethnic differences matter, putting some women at a significantly higher risk, a new study finds. Genetic ancestry should therefore be considered as a risk factor.

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News • Intestinal disease diagnosis

Next-generation tools find infections missed by standard tests

A University of Liverpool study has used advanced genetic and genomic techniques to offer a major step forward in understanding and diagnosing infectious intestinal diseases.

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News • Amyotrophic lateral sclerosis

New insights on ALS onset opens paths to earlier treatment

New research shows that dysfunction in the mitochondria linked to amyotrophic lateral sclerosis (ALS) occurs before the cells show other signs of disease, which was not previously known.

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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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Maartje Huijbers

Combining research work and vice dean duties

As of May 1st, Maartje Huijbers holds the position of vice dean of research, a new position within the Leiden University Medical Center (LUMC). Huijbers is associate professor and research group leader in the Department of Human Genetics and the Department of Neurology. She will combine her work as a scientist with the position of vice dean.

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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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