
News • Solving a medical mystery
Cause of rare type of dwarfism discovered
Scientists have uncovered the cause of Saul-Wilson syndrome: A single, spontaneous gene change alters protein packaging in the cell’s Golgi complex, causing the disease.
Scientists have uncovered the cause of Saul-Wilson syndrome: A single, spontaneous gene change alters protein packaging in the cell’s Golgi complex, causing the disease.
One in two women and one in three men will likely be diagnosed with dementia, Parkinson's disease, or stroke in their lifetime, estimate Dutch researchers in an observational study
An interdisciplinary and international research group led by Dr. Volker Busskamp from the Center for Regenerative Therapies Dresden at the TU Dresden (CRTD) has decoded the regulatory impact on neuronal survival of a small non-coding RNA molecule, so-called miRNA, at the highest resolution to date.
Women diagnosed with non-small cell lung cancers (NSCLC) live longer than their male counterparts, according to results of a SWOG study presented by Loyola Medicine researcher Kathy Albain, MD, at the International Association for the Study of Lung Cancer's 19th World Conference on Lung Cancer in Toronto.
A commonly used biomarker of kidney disease may also indicate lung problems, particularly COPD, or chronic obstructive pulmonary disease, according to new research published online in the American Thoracic Society’s American Journal of Respiratory and Critical Care Medicine. In “Albuminuria, Lung Function Decline, and Risk of Incident COPD: the NHLBI Pooled Cohorts Study,” Elizabeth C.…
Autoimmune diseases like Bechterew’s disease direct our immune systems agains our own bodies. Now, researchers at Jacobs University Bremen have come one step closer to understanding the molecular mechanisms of the disease also known as ankylosing spondylitis. It is characterized by long-term painful inflammation of the joints and deformation of the spine. One suspected cause is a particular…
Researchers at the University of Cambridge and the University of Oxford have discovered a new molecule that plays a key role in the immune response that is triggered by influenza infections.
Cell stress in combination with an altered microbiota in the colon drives tumour growth. Previously, it was assumed that this combination only contributes to inflammatory intestinal diseases.
Historical bias is a key reason why biomedical researchers continue to study the same 10 percent of all human genes while ignoring many genes known to play roles in disease, according to a study led by Thomas Stoeger and Luís Amaral of Northwestern University, and colleagues. This bias is bolstered by research funding mechanisms and social forces.
Scientists working to bioengineer the entire human gastrointestinal system in a laboratory now report using pluripotent stem cells to grow human esophageal organoids.
A DNA-based analysis of blood cells soon after a stem cell transplant can predict likelihood of disease recurrence in patients with myelodysplastic syndrome (MDS), a group of cancerous disorders characterized by dysfunctional blood cells. Such a practice could help doctors identify patients at high risk of disease recurrence early after a transplant and help guide treatment decisions.
Macrophages are immune cells that are supposed to protect the body from infection by viruses and bacteria. Yet Zika virus preferentially infects these cells. Researchers at University of California San Diego School of Medicine have now unraveled how the virus shuts down the genes that make macrophages function as immune cells.
Half of clinical trials on the EU register have not reported results, despite rules requiring results to be posted within 12 months of completion, finds a study published by The BMJ. Findings show compliance has been poor overall, but companies show higher rates of compliance than academics
Cancer cells often have mutations in their DNA that can give scientists clues about how the cancer started or which treatment may be most effective. Finding these mutations can be difficult, but a new method may offer more complete, comprehensive results. A team of researchers has developed a new framework that can combine three existing methods of finding these large mutations - or structural…
Anyone with arthritis can appreciate how useful it would be if scientists could grow cartilage in the lab. To this end, Keck School of Medicine of USC scientists in the USC Stem Cell laboratory of Denis Evseenko, MD, PhD, collaborated with colleagues at several institutions to provide new insights into how gene activity drives the development of cartilage. Their findings appear in Nature…
In healthy individuals, the Zika virus causes flu-like symptoms. If a pregnant woman becomes infected, the unborn child can suffer from severe brain abnormalities as a result of mechanisms that have not yet been explained. A study by the Technical University of Munich (TUM) and the Max Planck Institute of Biochemistry (MPI-B) shows that Zika virus proteins bind to cellular proteins that are…
A drug which has been used to treat liver disease for decades could help to restore cells damaged by Alzheimer's, a new study from the University of Sheffield has found. The pioneering study discovered the drug ursodeoxycholic acid (UDCA) improves mitochondrial dysfunction – which is known to be a causative factor for both sporadic and familial Alzheimer's disease.
Clinicians should consider how the way we think can make us vulnerable to obesity, and how obesity is genetically intertwined with brain structure and mental performance, according to new research. The study, led by researchers at the Montreal Neurological Institute and Hospital (The Neuro), was an examination of MRI and cognitive test data from 1,200 individuals, supplied as part of the Human…
A team of researchers at the University of Minnesota have, for the first time, fully 3D printed an array of light receptors on a hemispherical surface. This discovery marks a significant step toward creating a “bionic eye” that could someday help blind people see or sighted people see better. The research is published in Advanced Materials, a peer-reviewed scientific journal covering…
Scientists at the Virginia Tech Carilion Research Institute (VTCRI) have found evidence that may disrupt conventional understanding about how electrical activity travels in the heart — a discovery that potentially can lead to new insight into medical problems such as heart arrhythmia and sudden cardiac death.
A major study has been launched to investigate the interaction between genes and lifestyle factors and dilated cardiomyopathy (DCM). Led by Professor Stuart Cook, at the National Heart and Lung Institute, this, the largest ever DCM study, will investigate why people develop DCM, with a focus on who is most at risk of sudden death or heart failure (HF). Six hospital trusts across England –…
When delegates from around 150 countries converge on Munich for ESC Congress 2018 they will no doubt reflect on what they themselves eat. Yes, nutrition is up for debate, questioning, for example, whether weight loss therapies can also prevent heart attacks and strokes. Results from the CAMELLIA-TIMI 61 trial of 12,000 overweight individuals with established cardiovascular disease or diabetes…
Scientists have identified a key molecular player in a subtype of lung cancer which could lead to a new way to tackle the disease, according to research published in Nature Communications. They found lung squamous cell carcinoma (LUSC) cells contained high amounts of a protein called BCL11A. The study showed that manipulating the gene responsible for the protein stopped the development of LUSC in…
Researchers have discovered a good reason to not wear tight-fitting underwear – beyond the obvious aspect of fashion: According to new research led by Harvard T.H. Chan School of Public Health, men who frequently wear boxers have significantly higher sperm concentrations and total sperm counts when compared with their briefs-wearing counterparts. The findings of this study, conducted in the…
Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy and affects more than two million people worldwide. In Germany, at least 30.000 people suffer from CMT which belongs to the class of rare disease. In a close collaboration, researchers at the Max-Planck-Institute for Experimental Medicine and the University Medical Center of Göttingen now hope to use lecithin, a harmless…