Genetics

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News • Brain cancer

Typical mutation in cancer cells stifles immune response

The exchange of a single amino acid building block in a metabolic enzyme can lead to cancer. In addition, it can impair the immune system. It thus blocks the body’s immune response in the battle against the mutant molecule and also impedes immunotherapy against brain cancer. This finding opens new insights into cancer development and progression and it also suggests that rethinking antitumor…

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Article • Questioning the Genetic Diagnostics Act

Self-help healthcare or face a penalty?

The fact that genetic research can reveal hereditary diseases has been transferred to medical practice for some time and, since 2010, the Gene Diagnostics Act (GenDG) has regulated permissible DNA tests in medical diagnostics and pedigree in Germany. The procedure has great potential, says Professor Jochen Taupitz - but also great risks are associated with it.

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News • Faster diagnosis, reduced cost

The impact of whole genome sequencing on newborn babys in ICU

Early whole genome sequencing might bring hope for children who are born severely ill or who develop serious illness in the first few weeks of their life. Because these children are often difficult to diagnose, detection of diseases has considerable implications for their short and longer-term care. At the annual conference of the European Society of Human Genetics (ESHG) in Milan, Italy, the…

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News • Old as mice

When less is more: Gene switch for healthy aging found

Aging is a major risk factor for physical frailty and the development of age-related diseases such as cancer, cardiovascular diseases, type II diabetes and Alzheimer's disease. Numerous studies have already shown that a calorie-restricted diet can significantly delay age-related conditions in several organisms like flies, worms, fish and mice, and that it even improves fitness at old age. But who…

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News • High throughput screening

Tumor-like spheres to help discover smarter cancer drugs

Cancer is a disease often driven by mutations in genes. As researchers learn more about these genes, and the proteins they code for, they are seeking smarter drugs to target them. The ultimate goal is to find ways to stop cancer cells from multiplying out of control, thereby blocking the growth and spread of tumors. Now researchers from The Scripps Research Institute are reporting an innovative…

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Video • Gender & genetics

Alzheimer's: study reveals sex differences

The APOE gene, the strongest genetic risk factor for Alzheimer’s disease, may play a more prominent role in disease development among women than men, according to new research from the Vanderbilt Memory and Alzheimer’s Center. The research confirmed recent studies that carrying the APOE ε4 allele has a greater association with Alzheimer’s disease among women compared to men, and went one…

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News • Music for life

Massive Attack to last forever – in DNA form

The digital audio of an entire music album is to be stored in the form of genetic information for the first time, using technology developed at ETH Zurich. Coded in DNA molecules and poured into tiny glass beads, an album by Massive Attack will be preserved – practically for eternity. The British band Massive Attack are considered pioneers of trip hop, an atmospheric style of electronic music…

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Video • Wolbachia

Little-known bacteria might grind Zika and dengue infections to a halt

A Vanderbilt team took the next leap forward in using a little-known bacteria to stop the spread of deadly mosquito-borne viruses such as Zika and dengue. Wolbachia are bacteria that occur widely in insects and, once they do, inhibit certain pathogenic viruses the insects carry. The problem with using Wolbachia broadly to protect humans is that the bacteria do not normally occur in mosquitoes…

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News • Fact-checking

Inherited cancer and genetic testing - looking beyond the myths

Cancer is a genetic disease caused by abnormal changes over time to genes that control cell function, typically starting in a single cell (an acquired mutation) and often not linked to an inherited genetic mutation. In other words, most cancers happen by chance. Only about 5 to 10 percent of cancers are due to an inherited genetic mutation, says Monique Lubaton, MGC, CGC, cancer genetic counselor…

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News • Life expectancy

Mole-rats might teach us how to become old and healthy

Humans and other mammals have a lot in common. Depending on race, 80 to 98% of mammalian genetic makeup is identical to the human one. Nevertheless, the variety of life expectancy among mammals is huge; and so far, it was unclear, which impact the genetic makeup has on a species’ life span. In rodents, differences in life expectancy and morbidity during aging are particularly high: Despite…

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News • DNA research

Stroke: largest-ever genetic study provides new insight

An international research group, including scientists at the University of Maryland School of Medicine, studying 520,000 people from around the world has identified 22 new genetic risk factors for stroke, tripling the number of gene regions known to affect stroke risk. The results show that stroke shares genetic influences with other vascular conditions, especially blood pressure, but also…

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News • Triggering inflammatory reactions

Parkinson’s gene initiates disease outside of the brain

Until very recently, Parkinson’s had been thought a disease that starts in the brain, destroying motion centers and resulting in tremors and loss of movement. New research published this week, shows the most common Parkinson’s gene mutation may change how immune cells react to generic infections like colds, which in turn trigger the inflammatory reaction in the brain that causes…

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News • Breast cancer

Double mastectomy slashes risk - but not for all women

Healthy women who carry a breast cancer-causing mutation in the BRCA1 gene, not only reduce their risk of developing the disease but also their chances of dying from it if they have both breasts removed, according to new research presented at the 11th European Breast Cancer Conference. However, the study also found that for women with a mutation in the BRCA2 gene, there was no difference in their…

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News • Power of the heart

Gene therapy can make the heart stop atrial fibrillation itself

The heart is capable of terminating arrhythmias itself after local gene therapy, potentially avoiding the need for patients to undergo painful electric shocks, according to a proof-of-concept study presented today at EHRA 2018, a European Society of Cardiology congress. Atrial fibrillation is the most common heart rhythm disorder (arrhythmia). Treatment aims to restore the heart’s normal rhythm…

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News • DNA repair

Proteins: Sentinels of the Genome

Throughout life, DNA is constantly being damaged by environmental and intrinsic factors and must be promptly repaired to prevent mutations, genomic instability, and cancer. Different types of damages are repaired by numerous proteins organized into damage-specific pathways. The proteins from different pathways must be spatially and temporally coordinated in order to efficiently repair complex DNA…

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News • Screening tumor samples

A molecular map of childhood cancers

Researchers led by Professor Stefan Pfister from the "Hopp Children's Cancer Center at the NCT Heidelberg" (KiTZ) have been able to draw an extremely detailed molecular map of childhood cancers. In close collaboration with the German Cancer Consortium (DKTK) and the Society for Pediatric Oncology and Hematology (GPOH), they screened almost 1,000 tumor samples from 24 cancer types for…

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News • DNA analysis

Magnetic biosensor array simplifies cancer detection

In standard settings, the analysis of each DNA modification requires a carefully optimised assay that runs under specific conditions. This increases cost and labour and is a severe limitation to throughput. Now, however, researchers at Stanford University and the Technical University of Denmark have come up with a new method that will enable doctors to make a more precise diagnosis, prognosis and…

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News • Large study

Five novel genetic changes linked to pancreatic cancer risk

In what is believed to be the largest pancreatic cancer genome-wide association study to date, researchers at the Johns Hopkins Kimmel Cancer Center and the National Cancer Institute, and collaborators from over 80 other institutions worldwide discovered changes to five new regions in the human genome that may increase the risk of pancreatic cancer. The new findings represent one more step toward…

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News • Beyond PSA monitoring

New prostate cancer risk model could better guide treatment

One of the biggest challenges in treating prostate cancer is distinguishing men who have aggressive and potentially lethal disease from men whose cancer is slow-growing and unlikely to metastasize. For years, prostate-specific antigen (PSA) level, cancer grade and tumor stage have been used to sort prostate cancer patients into risk groups established by the National Comprehensive Cancer Network.…

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News • Gene editing

CRISPR-based technology DETECTR can detect viral DNA

A powerful genome editing tool can be deployed as an ace DNA detective, able to sniff out DNA snippets that signal viral infections, cancer, or even defective genes. This genetic detective, developed in the laboratory of Howard Hughes Medical Institute (HHMI) Investigator Jennifer Doudna at the University of California, Berkeley, uses the genome-slicing system known as CRISPR. By combining the…

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News • Discovery

'Selfish' gene may protect against heart disease

Scientists have identified a gene that may play a protective role in preventing heart disease. Their research revealed that the gene, called MeXis, acts within key cells inside clogged arteries to help remove excess cholesterol from blood vessels. Published in the journal Nature Medicine, the UCLA-led study in mice found that MeXis controls the expression of a protein that pumps cholesterol out…

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Article • Immunotherapy

The DNA mismatch repair mechanism

A new genetic study by UK-based scientists suggests that immunotherapy drugs could prove to be an effective treatment for some breast cancer patients. Scientists from the Wellcome Trust Sanger Institute, near Cambridge – one of the world’s leading genome centres – and their collaborators, have identified particular genetic changes in a DNA repair mechanism in breast cancer. Led by Dr Serena…

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News • Microbubbles

Bracco Imaging to innovate ultrasound for new personalized gene therapy

Bracco Imaging S.p.A., a global leader in diagnostic imaging, announced that it has initiated new experimental activities in its R&D Center in Geneva, Switzerland, to explore a new application for gas-filled microbubbles in the development of personalized gene therapy for treatment of chronic dysfunctional diseases related to lipid metabolism. Microbubbles have already revolutionized medical…

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News • Primary ciliary dyskinesia

Molecular roots of genetic lung disease identified

Respiratory infections peak during the winter months, and most people recover within a few weeks. But for those with a rare genetic lung disease, the sniffling, coughing and congestion never end. The tiny hairlike structures called cilia that normally sweep mucus through the airways don’t work properly in people with what’s known as primary ciliary dyskinesia. When the cilia don’t brush…

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