Search for: "genetic disease" - 250 articles found

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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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News • Classifying subtypes

Breast cancer ‘ecotypes’ could lead to more personalised treatment

A team led by the Garvan Institute of Medical Research has revealed a new approach for classifying breast cancer subtypes based on their cell profile, which could help personalise treatments for patients. By analysing breast cancer biopsies from patients at Sydney hospitals, the researchers revealed more than 50 distinct cancer, immune and connective cell types and states, which could assign…

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News • Amyotrophic lateral sclerosis

New predictive biomarkers for ALS identified

Some blood lipid biomarkers linked to cardiovascular disease risk are also associated with a lower risk of amyotrophic lateral sclerosis (ALS) suggest the findings of a large epidemiology study. ALS is the commonest form of motor neuron disease - a progressive nervous system disease that destroys nerve cells responsible for voluntary movement such as walking and talking.

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News • Prevention of toxic DNA lesions

Promising mechanism to stop Huntington's progression

A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their research groups at the UK Dementia Research Institute. Researchers say the breakthrough study, published in Cell Reports, could lead to much needed therapies for the rare genetic disease, which is…

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News • Atrial fibrillation

Night shift work could increase risk of heart problems

People who work night shifts are at increased risk of developing an irregular and often abnormally fast heart rhythm called atrial fibrillation (AF), according to research published in the European Heart Journal. The study is the first to investigate the links between night shift work and AF. Using information from 283,657 people in the UK Biobank database, researchers found that the longer and…

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Video • Coronavirus medication research

Lab-grown beating heart cells could identify Covid drugs

Scientists have grown beating heart cells to attempt to identify drugs to prevent Covid-19-related heart damage. Concerns over the extent of cardiac damage among Covid patients emerged during the coronavirus pandemic and there are also suggestions that the impact on cardiomyocytes could contribute to the symptoms of long Covid. To explore these issues, a research team at the University of…

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Article • Precision oncology

Personalized health and genomics: Minimizing collateral damage

A solid diagnosis has always been the first step on any patient’s journey to health. However, diagnostic categories are necessarily oversimplifications. In the last decades, medical professionals and scientists have begun to uncover the true variability in patients’ physiological and biochemical make-up that is the principal cause for individual variations in the way diseases present…

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News • Early detection & prevention

Blood-based micro-RNAs indicate colorectal cancer risk

The risk of colorectal cancer can be predicted more accurately by determining seven blood-based micro-RNAs (miRNAs) than by using traditional methods - and can be done so many years before a diagnosis is made. In a current study, researchers from the German Cancer Research Center and the National Center for Tumor Diseases (NCT) Heidelberg show that miRNA profiles provide greater predictive…

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News • Infection research

Understanding lung damage in Covid-19 patients

Covid-19 disease severity is determined by the individual patient’s immune response. The precise mechanisms taking place inside the lungs and blood during the early phase of the disease, however, remain unclear. Researchers from Charité – Universitätsmedizin Berlin, the Max Delbrück Center for Molecular Medicine (MDC) and Freie Universität Berlin have now studied the cellular mechanisms…

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News • Genome editing

Using CRISPR to speed up Covid-19 testing

A research team led by scientists in the labs of Jennifer Doudna, David Savage and Patrick Hsu at the University of California, Berkeley, is aiming to develop a rapid Covid-19 diagnostic test that is much faster and easier to deploy than qRT-PCR. It has now combined two different types of CRISPR enzymes to create an assay that can detect small amounts of viral RNA in less than an hour. Doudna…

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News • Controlling KRAS

New targeted gene therapy could stop lung cancer progression

A newly targeted therapy could help millions of lung cancer patients worldwide keep their cancers from spreading, says an expert at Cleveland Clinic, on the occasion of World Lung Cancer Day. Dr. Khaled Hassan, of the Hematology and Medical Oncology Department at Cleveland Clinic, explains the concept of KRAS targeted therapy – and why the approach should not be mistaken for a cancer cure.

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News • Tool to identify tumour mutations

Machine learning fuels personalised cancer medicine

The Biomedical Genomics laboratory at the Institute for Research in Biomedicine (IRB) Barcelona has developed a computational tool that identifies cancer driver mutations for each tumour type. This and other developments produced by the same lab seek to accelerate cancer research and provide tools to help oncologists choose the best treatment for each patient. The study has been published in the…

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News • Cardiology research

Dynamic heart model gives insight into cardiac disease progression

Efforts to understand cardiac disease progression and develop therapeutic tissues that can repair the human heart are just a few areas of focus for the Feinberg research group at Carnegie Mellon University. The group's latest dynamic model, created in partnership with collaborators in the Netherlands, mimics physiologic loads on engineering heart muscle tissues, yielding an unprecedented view of…

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Article • Oncology

Pancreatic cancer - current challenges and future direction

Pancreatic cancer is one of the deadliest cancers in the world, and one of the most difficult to treat. In 2020, an estimated 495,000 individuals worldwide were diagnosed with pancreatic cancer and an estimated 466,000 died, according to statistics from the World Health Organization’s International Agency for Research on Cancer. Most patients with advanced disease die within a year of…

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News • Leading cause for blindness

Breakthrough in research on age-related macular degeneration

Age-related macular degeneration (AMD) is the most common cause of blindness in developed countries affecting seven million in total in Germany, from which 500,000 people are suffering from late stage disease, around half of whom are registered as visually impaired. There are two forms of AMD, ‘wet’ and ‘dry’. There are currently no treatments available for the dry form of the disease…

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News • Unprecedented improvements

Gene therapy 'reprograms' cells to reverse AADC deficiency

A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University Wexner Medical Center and The Ohio State University College of Medicine, offers new hope to those living with incurable genetic and neurodegenerative diseases.

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News • Mammacarcinoma study

Breast cancer: finishing treatment soon after diagnosis increases survival

Research from Cleveland Clinic in the U.S. and Cleveland Clinic Abu Dhabi in the U.A.E. has found a decrease in patient survival rates when treatment options – surgery, chemotherapy and radiation – are completed more than 38 weeks from the time of diagnosis. The observational study, which included more than 28,000 breast cancer patients registered in the American National Cancer Database, is…

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News • Coronavirus epidemiology

A cloud-based software for the surveillance of SARS-CoV-2 variants

In-vitro-diagnostics company bioMérieux has launched Episeq SARS-CoV-2, a genomic software solution to support microbiology labs in identification and reporting from raw sequencing data related to SARS-CoV-2 variants. Viral mutation is a naturally occurring phenomenon leading to the emergence of variants that can have different characteristics. Today, a number of SARS-CoV-2 variants are…

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News • Cardiology research

Statins could reduce risk of cancer among heart failure patients

Statin use among patients with heart failure is associated with a 16% lower risk of developing cancer compared with non-statin users during an average of four years of follow-up. This is according to new research published in the European Heart Journal. In addition, the study found that statin use was associated with a 26% reduced risk of dying from cancer over the same period.

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News • Sonothermogenetics

Tool activates deep brain neurons by combining ultrasound, genetics

Neurological disorders such as Parkinson’s disease and epilepsy have had some treatment success with deep brain stimulation, but those require surgical device implantation. A multidisciplinary team at Washington University in St. Louis has developed a new brain stimulation technique using focused ultrasound that is able to turn specific types of neurons in the brain on and off and precisely…

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News • Molecular research

How retroviruses become infectious

Understanding every step in the life cycle of a virus is crucial for identifying potential targets for treatment. Now, scientists at the Institute of Science and Technology (IST) Austria were able to show how a virus from the retrovirus family – the same family as HIV – protects its genetic information and becomes infectious. Furthermore, they show an unexpected flexibility of the virus. This…

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Article • dPCR and HSAFM

Low-cost technique for missed genetic mutations

A new low-cost method targeting genetic mutations often missed by existing diagnostic approaches has been developed. Researchers at Virginia Commonwealth University (VCU) in the United States noted that most rearrangement mutations implicated in cancer and neurological diseases fall between what can be detected by DNA sequence reads and optical microscopy methods. The new technique combines…

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News • Vision for vision

Reversing blindness: Award for cone optogenetics gene therapy

The Foundation Fighting Blindness has granted 600,000 US$ to help Hendrik Scholl as principal investigator define a novel way of reversing blindness. Hendrik Scholl is Director of the Institute of Molecular and Clinical Ophthalmology Basel (IOB), Professor and Chairman of the Department of Ophthalmology, University of Basel, and Head of the University Hospital’s Eye Clinic in Basel, Switzerland.

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News • Battling bacteria

Stress test finds cracks in the armor of harmful hospital bugs

Research has identified critical factors that enable dangerous bacteria to spread disease by surviving on surfaces in hospitals and kitchens. The study into the mechanisms which enable the opportunistic human pathogen Pseudomonas aeruginosa to survive on surfaces, could lead to new ways of targeting harmful bacteria. To survive outside their host, pathogenic bacteria must withstand various…

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