The U.K. has released a huge repository of children’s genomic data after sequencing blood samples from three large cohorts recruited at birth and followed across three decades. The power of the data is amplified by the large volume of longitudinal health information, biological samples and responses to surveys and questionnaires that has been provided by participating families. Before this, large-scale publicly available genome sequences were limited to adult cohorts, and the only childhood genome sequence data was from children with rare diseases.
The U.K. has released a huge repository of children’s genomic data after sequencing blood samples from three large cohorts recruited at birth and followed across three decades. The power of the data is amplified by the large volume of longitudinal health information, biological samples and responses to surveys and questionnaires that has been provided by participating families.
Abbvie Inc. is buying into the obesity fray in a potential $1.875 billion development and commercialization agreement with Danish peptide drug discovery specialist Gubra A/S. In addition, there will be a $350 million up-front payment as Abbvie takes over the reins of GUB-014295 (referred to as Gubamy), a long-acting analog of the satiety hormone amylin, currently in phase I development.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
The EMA’s Committee for Medicinal products for Human Use (CHMP) is standing by its opinion on Leqembi (lecanemab) after the European .mission pushed back against a recommendation in November 2024 that the Alzheimer’s disease drug be approved
The map of cystic fibrosis (CF) research is being redrawn in the U.K. as improvements in treatment, and in particular the introduction of CF modulator drugs, mean people with the rare inherited disease are living much longer.
The map of cystic fibrosis (CF) research is being redrawn in the U.K. as improvements in treatment, and in particular the introduction of CF modulator drugs, mean people with the rare inherited disease are living much longer.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. Researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients led to the identification of 141 new disease-gene associations.
Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis.
New research has uncovered a complex interplay between extracellular matrix (ECM) structure and the transcriptional responses of cancer cells, showing how they alter their gene expression to ‘escape’ from ECM.
