Alzheimer’s disease is a neurodegenerative disorder characterized by progressive memory loss and cognitive dysfunction. It affects more than 30 million people worldwide, including an estimated 5.4 million Americans. One in … Continue Reading Dysfunction in neuronal transport mechanism linked to Alzheimer’s disease.
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.
Leukemia, or blood cancer, involves pathological alterations in the body’s hematopoietic system. In acute myeloid leukemia, it is specifically the bone marrow that is affected. In a healthy body, different … Continue Reading Previously unknown cell-death pathway mapped in leukemia cells.
Charcot-Marie-Tooth Disease (CMT) is a family of inherited disorders of the peripheral nervous system, affecting approximately one in 2,500 Americans. Its most common iteration, CMT1, comes in many forms, most … Continue Reading Researchers identify previously unknown genetic cause of inherited neuropathy.
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.
Intracellular organelles mediate complex cell-based functions that often require ion-transport across their membranes. Melanosomes are organelles responsible for the synthesis of the major mammalian pigment melanin. Defects in melanin synthesis … Continue Reading Study identifies the protein that puts the brakes on melanin production.
Deoxyribonucleic acid (DNA) is a molecule that contains the genetic information to develop and maintain life. DNA consists of four bases, namely adenine, cytosine, guanine, and thymine. These four bases … Continue Reading Misregulation of DNA building blocks mapped in colon cancer development.
Now, researchers at Peter MacCallum Cancer Centre have identified a link between the BRCA1 gene mutation and lower levels of a hormone that is an indicator of the number of … Continue Reading Gene mutation implicated in cancer also linked to lower fertility in women.
The innate immune system is hard-wired to protect people from infection. However, mutations in these protective genes can lead to uncontrolled inflammation, resulting in autoinflammatory disease. Autoinflammatory diseases are characterized … Continue Reading Precision medicine study identifies decades-old mysterious, rare and debilitating disease.
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.
Mitochondria are the cellular powerplant and, reliant on nutrient status, it is known that Vitamin B turns mitochondria into cellular builders. Through vitamin B, mitochondria produce substances to make ingredients … Continue Reading Mitochondria dysfunction shown to cause vitamin b imbalance and genetic changes.
It has long been known that transcriptional regulation during embryonic development relies on the regulation of thousands of genes. Within a particular cell type defined sets of DNA-binding transcription factors … Continue Reading Researchers map how transcription factors interact to create a heart.
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.
Autism spectrum disorder (ASD) represents a diverse group of neurodevelopmental conditions. The clinical presentation and outcome vary substantially. The use of genome-wide tests to provide molecular diagnosis for individuals with … Continue Reading Study identifies children with Autism who benefit from genetic testing.