Congenital long QT syndrome (LQTS), affecting approximately 1 in 2000 people, is a heritable cardiac disease where patients are at an increased risk for LQTS-triggered seizures, and sudden cardiac arrest … Continue Reading Researchers identify genetic link between a rare heart disorder and an increased risk of seizures.
Telomere dysfunction has been proposed as a key event that causes cancer progression. According to this model, progressive telomere shortening results in telomere dysfunction and end-to-end chromosomal fusions. The resulting … Continue Reading Researchers identify telomere-based mechanism which turns mutant cells into aggressive cancers.
It is known that Amyotrophic Lateral Sclerosis (ALS) gradually kills nerve cells in the brain and spinal cord. It is one of the most prevalent neuromuscular diseases, resulting in more … Continue Reading Study shows microglia has a direct role in the development of Lou Gehrig’s disease.
In a cancerous breast, researchers have seen the problems with the various components of breast tissue and could not fully explain why they happened. The tissue, called the stroma, includes … Continue Reading Human study identifies new gene as cause and early indicator of breast cancer.
A germline mutation is any detectable and heritable variation in the lineage of germ cells, any biological cell that gives rise to the gametes of an organism in sexual reproduction. … Continue Reading Study provides most detailed analysis yet of germline mutations involved in childhood cancers.
Colorectal cancer is now understood to be definitely linked to microbial problems in the gut. Research has shown that the disease is linked with less numbers and diversity in the … Continue Reading Researchers use gut bacteria to map genetic mutations in colorectal cancer tumours.
Synapses are specialized, protein-rich cell junctions that are essential for normal brain function and are dysfunctional in many diseases and disorders of the nervous system. Synapses are made up of … Continue Reading Study identifies elusive master regulator of synaptic protein sorting.
Researchers have believed for a long time that cancerous stem cells may trigger reproduction and growth of cells within a cancer. These cancerous stem cells lurking within the cancer, under … Continue Reading New research supports theory that cancer is a ‘stem-cell disease’.
A healthy motor neuron needs to transport its damaged components from the nerve-muscle connection all the way back to the cell body in the spinal cord. If not, the defective … Continue Reading Researchers identify the role mitochondria plays in familial ALS.
Dividing cells are prone to errors, and so they must be prepared to summon sophisticated emergency systems to deal with potential damage. One type of division-derailing mishap can occur when … Continue Reading Researchers identify previously unknown part of the ICL DNA repair pathway.
An analysis of five families has revealed a previously unknown genetic immunodeficiency, says an international team led by researchers from Boston Children’s Hospital. The condition, linked to mutations in a … Continue Reading International team discovers previously unknown genetic immunodeficiency.
Researchers at the University of Toronto have uncovered new insights on the genetic causes of Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease. These findings could uncover a … Continue Reading Human generational study pinpoints epigenetic cause of Amyotrophic Lateral Sclerosis (ALS).
A new collaborative study led by researchers at Sanford-Burnham Medical Research Institute provides new insight into the molecular changes that lead to resistance to a commonly prescribed group of drugs … Continue Reading Researchers identify new epigenetic pathway in drug-resistant melanoma.
Nearly 70,000 people worldwide are living with cystic fibrosis, a life-threatening genetic disease. There currently is no cure for the condition, however, researchers from the University of Missouri have identified … Continue Reading Previously unseen mechanism and component in protein that causes cystic fibrosis identified.
The first-ever systematic study of the genomes of patients with ALK-negative anaplastic large cell lymphoma (ALCL), a particularly aggressive form of non-Hodgkin’s lymphoma, shows that many cases of the disease … Continue Reading Researchers demystify rare, deadly lymphoma.
In a group of patients diagnosed with colorectal cancer at 40 or younger, 1.3 percent of the patients carried germline TP53 gene mutations, although none of the patients met the … Continue Reading Researchers begin to map inherited gene mutations in colorectal cancer.