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3811

Gene disruption signals cerebral palsy and autism link

University of Adelaide researchers have uncovered a genetic signal common to both cerebral palsy and autism. The finding comes from the first large-scale study of gene expression in children with cerebral palsy. The researchers, from the University’s Australian Collaborative Cerebral Palsy Research Group in the Robinson Research Institute, also showed common underlying molecular pathways in […]

3812

Scientists find possible autism biomarker in cerebrospinal fluid

Autism diagnosis is slow and cumbersome, but new findings linking a hormone called vasopressin to social behaviour in monkeys and autism in people may change that. Low vasopressin in cerebrospinal fluid was related to less sociability in both species, indicating the hormone may be a biomarker for autism. A paper describing the research, which was […]

3813

New tool predicts deadly form of rare cancer

Two patients with mycosis fungoides (MF) can appear to have identical diseases upon first diagnosis but can have radically different outcomes. MF in an unusual cancer of the T lymphocyte that begins in the skin rather than in the lymph nodes, with the first sign often being a rash. Most patients with MF, the most […]

3814

New breast cancer targets

Genome-wide association studies (GWAS) have identified more than 150 genetic variations associated with increased risk for breast cancer. Most of these variants are not located in protein-coding gene regions but are assumed to regulate the expression of certain genes. One way to figure out what these variants are doing is to conduct a cis-eQTL analysis. […]

3815

New methods for genetics analyses and diagnosis of inflammatory bowel disease

The two most common types of inflammatory bowel diseases are ulcerous colitis and Crohn’s disease. These are diagnosed by camera inside the gut, and by investigating small samples of the gut (biopsies). The diagnosis is often difficult, and if the wrong diagnosis is made, there may be severe consequences for the patients, because the treatments […]

3817

Study of thyroid cancer genetics finds new mutations, suggests immunotherapy

University of Colorado Cancer Center researchers recently completed the largest-ever study of thyroid cancer genetics, mining the data of 583 patient samples of advanced differentiated thyroid cancer and 196 anaplastic thyroid cancers. In addition to identification of specific genes that may drive these cancers and thus provide attractive targets for treatment, the researchers found that […]

3819

A blood test determines when it is safe to return to play after concussion

A high-sensitive blood test can aid concussed hockey players when it might be safe to return to play. In a study, researchers at Sahlgrenska Academy has identified a superior blood-based biomarker for assessing subtle brain injury. "This could serve as an objective test a long side clinical evaluation to whether a player is fit to […]

3820

Protein responsible for leukaemia’s aggressiveness identified

Researchers have identified a protein critical for the aggressiveness of T-cell leukaemia, a subtype of leukaemia that afflicts children and adults. The identification of ubiquitin-fusion degradation 1 (UFD1) allows for better understanding what causes leukaemia to progress and become highly aggressive and treatment-resistant, and may lead to a new treatment for this type of cancer. […]