In a study involving more than 31,000 women with cancer-causing mutations in the BRCA1 or BRCA2 genes, researchers at The Basser Center for BRCA, the Abramson Cancer Center, and the … Continue Reading Large-scale study shows risk of breast and ovarian cancer differs by type of BRCA1, BRCA2 mutation.
A new blood test may more accurately identify blood signatures, or biomarkers, for Parkinson’s disease (PD), according to a new study published in the journal Movement Disorders. The study, conducted … Continue Reading New blood test identifies genetic risk factor for Parkinson’s disease in human studies.
Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding may help scientists unravel … Continue Reading Researchers identify epigenetic mutation in pediatric seizure disorders.
The micro RNA miR-22 has long been known for its ability to suppress cancer. However, questions remain about how it achieves this feat. For example, which molecules are regulating miR-22, … Continue Reading Researchers being to map the epigenetic pathway of miR-22 cancer suppression.
Researchers at the Spanish National Cancer Research Centre (CNIO) have described the presence of mutations in the MDH2 gene, in a family with very rare neuroendocrine tumours associated with a … Continue Reading Researchers identify point of epigenetic mutation of hereditary neuroendocrine tumours.
A small number of children who catch the influenza virus fall so ill they end up in the hospital, perhaps needing ventilators to breathe, even while their family and friends … Continue Reading Epigenetic mutation helps explain why, in rare cases, flu can kill.
Recent research has linked autism with a lack of pruning in developing brain connections, but a new Dartmouth study suggests instead it is the excessive growth of new connections that … Continue Reading Researchers begin to map the epigenetic methylation of excessive brain connections in Autism.
Scientists from the Washington University and Emory University have gained new insight into fragile X syndrome, the most common cause of inherited intellectual disability, by studying the case of a … Continue Reading New genetic clues found in fragile X syndrome.
A University of Colorado study published in the journal Stem Cells has identified a program that makes stem cells damaged by radiation differentiate into other cells that can no longer … Continue Reading Researchers reprogram stem cells after radiation, lower cancer risk.
UT Southwestern Medical Center researchers have demonstrated that whole-genome sequencing can be used to identify patients’ risk for hereditary cancer, which can potentially lead to improvements in cancer prevention, diagnosis, … Continue Reading Researchers confirm whole-genome sequencing can identify cancer-related mutations and risk.
Premature ovarian failure, also known as primary ovarian insufficiency (POI), affects 1% of all women worldwide. In most cases, the exact cause of the condition, which is often associated with … Continue Reading Genetic mutation identified as cause of human ovarian failure.
Next generation sequencing in malignant pleural mesothelioma (MPM) tumours shows a complex mutational setting with a high number of genetic alterations in genes involved in DNA repair, cell survival and … Continue Reading Next generation sequencing used to map epigenetic methylation in malignant pleural mesothelioma.
The medical community knows that a tiny group of cells in the brain stem tells humans when to breathe. These cells can sense the buildup of carbon dioxide in the … Continue Reading Tiny patient prompts advance in neurogenetics.
A team of scientists led by The New York Stem Cell Foundation (NYSCF) Research Institute successfully created a human stem cell disease model of Parkinson’s disease in a dish. Studying … Continue Reading Scientists create precision genetics model of Parkinson’s Disease in a dish.
New work by scientists from the Children’s Hospital of Philadelphia details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases. Mitochondria are … Continue Reading Steadily rising increases in mitochondrial DNA mutations cause abrupt shifts in disease.
Scientists at the Institut de Recherches Cliniques de Montréal (IRCM) discovered a mechanism that promotes the progression of medulloblastoma, the most common brain tumour found in children. The team found … Continue Reading New discovery could prevent the development of brain tumours in children.