
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.

It has been known for some time that it is better to transfer a single embryo to a woman’s womb during assisted reproduction treatment (ART) to avoid a multiple pregnancy. However, even when single embryo transfer (SET) is performed, some women still become pregnant with twins or even triplets. Researchers have investigated one of the reasons why this happens.

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.

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.

With new immunotherapy treatments for melanoma, recovery rates have risen dramatically – in some cases to around 50%. But they could be much higher. A new study led by researchers at the Weizmann Institute of Science showed, in lab dishes and animal studies, that a highly personalized approach could help the immune cells improve their ability to recognize the cancer and kill it.

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.

Evidence of tiny particles of carbon, typically created by burning fossil fuels, has been found in placentas for the first time, in new research presented at the European Respiratory Society International Congress. Previous research has indicated links between pregnant mothers’ exposure to air pollution and premature birth, low birth weight, infant mortality and childhood respiratory problems.

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…

Researchers at Cleveland Clinic, University of Oxford, and University of Erlangen have identified a novel imaging biomarker – and found it can be used to predict all-cause and cardiac mortality by measuring inflammation of fatty tissue surrounding the coronary arteries.

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…

Researchers have developed a novel way for dating "hibernating" HIV strains, in an advancement for HIV cure research in the province. The HIV cure research confirms that dormant HIV strains can persist in the body for decades.

Burnout in doctors has devastating consequences on the quality of care they deliver, according to a large-scale systematic review and meta-analysis. The study, by experts at the Universities of Manchester, Keele, Leeds, Birmingham and Westminster, looks at 47 papers which together analyse the responses of 43,000 doctors. It finds that doctors with burnout are twice as likely to make mistakes,…

A new method predicts the course of HPV-negative head and neck cancer after radiation chemotherapy. According to a recent article in the journal ‘Clinical Cancer Research’, five microRNAs (miRNAs) can provide the decisive data.

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.

An international collaboration between Imperial College London, Singapore's Duke-NUS Medical School and Belgium-based pharmaceutical company UCB led to the discovery of a new anti-epileptic drug target and a whole new approach that promises to speed up the discovery of future drugs to treat debilitating diseases, such as epilepsy.

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.

The genome sequences of ape parasites related to Plasmodium vivax (P. vivax), the main source of mosquito-borne malaria outside Africa, provide insights on the origin and early evolution of the human parasite. This finding could have implications for better comprehending and eradicating malaria infection worldwide.

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 –…