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A gene is a unit of heredity in a living organism. It normally resides on a stretch of DNA that codes for a type of protein or for an RNA chain that has a function in the organism. All living things depend on genes, as they specify all proteins and functional RNA chains.
Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which likely will help doctors optimize treatment for this rare and deadly blood condition. The study, appearing in the New England Journal of Medicine, could lead to tailor-made treatment plans for aplastic anemia patients as part of the emerging precision medicine movement. [More]
Researchers complete phase 1 clinical trial of new drug for children suffering from neuroblastoma

Researchers complete phase 1 clinical trial of new drug for children suffering from neuroblastoma

Researchers at Spectrum Health Helen DeVos Children's Hospital have completed the first clinical trial of a new treatment for children suffering from neuroblastoma. In a clinical trial led by Giselle Sholler, MD, pediatric oncologist at Helen DeVos Children's Hospital and the Neuroblastoma and Medulloblastoma Translational Research Consortium (NMTRC), DFMO, an investigational agent, showed minimal side effects with long-term survival of three patients. [More]
Certain colon cancer genes take a step back to move forward

Certain colon cancer genes take a step back to move forward

Recent Weizmann Institute studies are revealing a complex picture of cancer progression in which certain genes that drive tumor growth in the earlier stages get suppressed in later stages - taking a step back to move forward. [More]
Damon Runyon creates new award to increase number of physician-scientists

Damon Runyon creates new award to increase number of physician-scientists

Physician-scientists are crucial to moving scientific discoveries from the lab to patients, but their numbers have been dwindling just when they are needed most, particularly in cancer research, as the number of cancer cases is projected to increase by 45 percent in the next fifteen years and elevate cancer to the leading cause of death in America. [More]
Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

Researchers use pioneering stem cell techniques to better understand causes of Spinal Muscular Atrophy

New research from the Advanced Gene and Cell Therapy Lab at Royal Holloway, University of London has used pioneering stem cell techniques to better understand why certain cells are more at risk of degenerating in Spinal Muscular Atrophy than others. [More]
UVA Health System opens high-tech clinical genomics lab

UVA Health System opens high-tech clinical genomics lab

The University of Virginia Health System has opened a high-tech clinical genomics lab that will personalize care for patients, help doctors determine the best treatments for cancers and other diseases, and allow UVA to offer the most cutting-edge clinical trials. [More]
Dietary fat intake could potentially ease mitochondrial disease, shows research

Dietary fat intake could potentially ease mitochondrial disease, shows research

Mice that have a genetic version of mitochondrial disease can easily be mistaken for much older animals by the time they are nine months old: they have thinning grey hair, osteoporosis, poor hearing, infertility, heart problems and have lost weight. Despite having this disease at birth, these mice have a "secret weapon" in their youth that staves off signs of aging for a time. [More]
Breast tumors have something in common with embryos, say MD Anderson researchers

Breast tumors have something in common with embryos, say MD Anderson researchers

It may seem incredulous, but breast tumors may have something in common with embryos ... at least in mice, say researchers at The University of Texas MD Anderson Cancer Center. [More]
Study supports need for diagnostic analysis of germline and tumor biomarker information

Study supports need for diagnostic analysis of germline and tumor biomarker information

A core tenet of precision medicine is that predictive biomarkers can enhance therapeutic decision-making. In a new pilot study, scientists at Molecular Health analyzed a randomly selected set of 250 patients with solid tumors and detected predictive biomarkers in more than 85% of tumors. [More]
TSRI scientists find five different miRNAs involved in memory formation

TSRI scientists find five different miRNAs involved in memory formation

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have found that a type of genetic material called “microRNA” plays surprisingly different roles in the formation of memory in animal models. In some cases, these RNAs increase memory, while others decrease it. [More]
Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers at Duke University School of Medicine and Brigham and Women's Hospital, Harvard Medical School have identified a mechanism that explains why some mutations can be disease-causing in one genome but benign in another. [More]
Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Scientists have discovered a new inherited form of obesity and type 2 diabetes in humans. A large number of genes are involved in regulating body weight, and there are now over 30 genes known in which people with harmful changes in DNA sequence become extremely overweight. Similarly, there are a number of genes that can, when altered, cause type 2 diabetes. These conditions are inherited through families in exactly the same way as disorders such as cystic fibrosis or Huntington's disease. [More]
Bacterial ‘fight club’ approach effective for finding new drugs from natural sources

Bacterial ‘fight club’ approach effective for finding new drugs from natural sources

Creating bacterial "fight clubs" is an effective way to find new drugs from natural sources. That is the conclusion of a team of Vanderbilt chemists who have been exploring ways to get bacteria to produce biologically active chemicals that they normally hold in reserve. These compounds are called secondary metabolites. [More]
SLU's Center for Vaccine Development receives $2.9 million to study new vaccine to combat TB

SLU's Center for Vaccine Development receives $2.9 million to study new vaccine to combat TB

Saint Louis University's Center for Vaccine Development has received a $2.9 million award from the Bill & Melinda Gates Foundation to study a new tuberculosis vaccine. [More]
Scientists develop high-throughput strategy to build de novo genomes

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect. [More]
Study could point the way to new treatments for people with severe asthma

Study could point the way to new treatments for people with severe asthma

The immune response that occurs in patients with severe asthma is markedly different than what occurs in milder forms of the lung condition, according to researchers from the University of Pittsburgh School of Medicine. Those unique features could point the way to new treatments, they said in an article published online today in the Journal of Clinical Investigation. [More]
Two years may be a more practical survival goal for patients with follicular lymphoma

Two years may be a more practical survival goal for patients with follicular lymphoma

The goal for many cancer patients is to reach the five-year, disease-free mark, but new research from UR Medicine's Wilmot Cancer Institute suggests that two years might be a more practical survival goal for people with follicular lymphoma. [More]
Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for eyes -- the replacement of a faulty gene with a healthy one -- is now underway at the Royal Alexandra Hospital to preserve and potentially restore vision for people with a genetic disorder that leaves them blind by middle age. [More]
Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Study on fruit flies, brewer's yeast may provide clues about cause of Spinal Muscular Atrophy

Scientists at the University of Malta and the Institut de Génétique Moléculaire de Montpellier (CNRS/Université de Montpellier) have shown that fruit flies and brewer's yeast can reveal clues about the cause of Spinal Muscular Atrophy (SMA), the most common genetic killer of infants. [More]
Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award. [More]
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