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New genetic cause discovered for photosensitive blood disorder
Researchers have uncovered a new genetic cause for erythropoietic protoporphyria...
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Genomics
Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.
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Novel genetic mutation discovered in Parkinson’s disease
Researchers have identified the first case of a patient with Parkinson's disease carrying a mutation in the ACMSD gene...
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How next-generation sequencing is opening the door for drug discovery
The Wellcome Trust Sanger Institute's Kim Judge explains how Next Generation Sequencing forms a crucial part of the scientist’s toolkit and makes a valuable contribution to the field of drug discovery...
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Calcilytics as potential novel therapeutic treatments to halt Alzheimer’s disease
Alzheimer’s disease (AD) is the most prevalent form of dementia.1 The common (>95% of cases) slow-developing form of the ailment is known as late-onset AD (LOAD) or sporadic AD (SAD). The rare (
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Genetic testing leads to response in MET fusion lung cancer
Researchers have identified a rare fusion involving the gene MET leading researchers to treat the cancer with a targeted therapy...
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Sequencing all 24 human chromosomes uncovers rare disorders
Study from NIH may help improve prenatal genetic screening...
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Nanoparticles give disease-fighting properties to cells
A new biomedical tool has been developed using nanoparticles that deliver transient gene changes to targeted cells...
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Scientists characterise regulatory DNA sequences responsible for human diseases
Scientists have developed an innovative system to identify and characterise the molecular components that control the activities of regulatory DNA sequences...
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New test for rare immunodeficiency
Researchers have developed a test to diagnose a rare and severe immune defect...
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GIST tumours linked to NF1 mutations
Researchers have determined that a specific region of the duodenal-jejunal flexure, shows a high frequency of gastrointestinal stromal tumours with mutations of the NF1 gene...
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Histone 1, the guardian of genome stability
Researchers have explained for the first time that the suppression of histone 1 causes cell damage and genomic instability...
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Two-step process leads to cell immortalisation and cancer
New research, has studied the immortalisation process using genome-engineered cells...
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New genetic analysis reveals early diagnosis for breast cancer
Researchers have shown that catching and treating breast cancer before it spreads is now a realistic goal...
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£2m collaboration to focus on gene and cell therapy
A leading gene and cell therapy group has announced a collaboration focusing on gene and cell therapy manufacturing..
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Improved analysis of kidney cancer
A research team have discovered that in the Cancer Genome Atlas database the gene expression in reference samples differs from normal tissue, depending on where in the kidney the samples happen to have been taken from...
