A joint collaboration has resulted in world's first genetic kit measuring for Clinical Endo-Cannabinoid Deficiency (CECD). CECD was originally theorized by Dr. Ethan Russo (1) in his 2004 article and is believed to be responsible for migraine, fibromyalgia, inflammatory bowel disease and other related conditions that effectively and collectively impact over 20% of the U.S. population. Physicians now will be capable of obtaining genetic insight leading to preventative care, symptom
A personal cancer treatment vaccine that targets distinctive "neoantigens" on tumor cells has been shown to stimulate a potent, safe, and highly specific immune anti-tumor response in melanoma patients, report scientists from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard. The study, published online by Nature "provides proof-of-principle that a personal vaccine tailored to a patient's tumor can be produced and generates highly specific responses to that
A consortium including St. Jude Children’s Research Hospital and the Children’s Oncology Group has performed an unprecedented genomic sequencing analysis of hundreds of patients with T-lineage acute lymphoblastic leukemia (T-ALL). The results provide a detailed genomic landscape that will inform treatment strategies and aid efforts to develop drugs to target newly discovered mutations. The data will also enable researchers to engineer better mouse models to probe the leukemia’s aberrant biological
We put things into a container to keep them organized and safe. In cells, the nucleus has a similar role: keeping DNA protected and intact within an enveloping membrane. But a new study by Salk Institute scientists, detailed in the November 2 issue of Genes & Development, reveals that this cellular container acts on its contents to influence gene expression. "Our research shows that, far from being a passive enclosure
The cornerstone of genetics is the loss-of-function experiment. In short, this means that to figure out what exactly gene X is doing in a tissue of interest—be it developing brain cells or a pancreatic tumor—you somehow cut out, switch off or otherwise destroy gene X in that tissue and then watch what happens. That genetic litmus test has been applied since before people even knew the chemical DNA is what
Scientists have shown that a mutation in a gene called Arid1b can cause liver cancer. The gene normally protects against cancer by limiting cell growth, but when mutated it allows cells to grow uncontrollably. The researchers have shown that two existing drugs can halt this growth in human cells. This points to a new approach to treating liver cancer. These early results could be translated into a treatment relatively quickly,
When University of Colorado Cancer Center researcher, Jing Hong Wang, MD, PhD, found more than 1,000 genetic translocations in her mouse model of B cell lymphoma, she assumed her lab had made a mistake. To rule out experimental technique as the cause of the way-more-than-expected genomic alterations, Wang’s lab sequenced three different types of cells from “wildtype” mice – effectively the kind that might move into your garage in bad
Experiments designed to reveal how a protein protects the lungs from asthma-related damage suggest a new way to treat a rare disease marked by the inability of cells to break down fats, according to a report in EBioMedicine published online Oct. 25. The study results address Gaucher’s disease, which is caused by a genetic glitch in cell structures called lysosomes that process fats and remove cellular waste. Found mostly in
Viruses hijack the molecular machinery in human cells to survive and replicate, often damaging those host cells in the process. Researchers at the University of California San Diego School of Medicine discovered that, for cytomegalovirus (CMV), this process relies on a human protein called CPEB1. The study, published October 24 inNature Structural and Molecular Biology, provides a potential new target for the development of CMV therapies. “We found that CPEB1,
A team of physicians and laboratory scientists has taken a key step toward a cure for sickle cell disease, using CRISPR-Cas9 gene editing to fix the mutated gene responsible for the disease in stem cells from the blood of affected patients. For the first time, they have corrected the mutation in a proportion of stem cells that is high enough to produce a substantial benefit in sickle cell patients. The
Patients who have received a solid organ transplant require lifelong immunosuppressive therapy. The threat of transplant rejection due to insufficient drug therapy must be balanced against increased risks of infections and cancer from excessive immunosuppression. A significant unmet need exists for non-invasive diagnostic tools to monitor transplant recipients, especially for early detection of active injury and rejection. A report in The Journal of Molecular Diagnostics describes a new non-invasive test
Researchers have shown that when parts of a genome known as enhancers are missing, the heart works abnormally, a finding that bolsters the importance of DNA segments once considered “junk” because they do not code for specific proteins. The team, led by scientists at the Department of Energy’s Lawrence Berkeley National Laboratory (Berkeley Lab), examined the role of two heart enhancers in the mouse genome, showing that the loss of
The underlying cause of male infertility is unknown for 30 percent of cases. In a pair of new studies, researchers at University of California San Diego School of Medicine determined that the reproductive homeobox (RHOX) family of transcription factors — regulatory proteins that activate some genes and inactivate others — drive the development of stem cells in the testes in mice. The investigators also linked RHOX gene mutations to male
A team at the MRC Clinical Sciences Centre (CSC), based at Imperial College London, has found an important part of the machinery that switches on a gene known to protect against Alzheimer’s Disease. Working in collaboration with scientists at the Hong Kong University (HKU) and the Erasmus University in Rotterdam, CSC associate professor Richard Festenstein explored the steps by which this Neuroglobin gene is gradually switched on, or up-regulated. Neuroglobin
A team of scientists at The University of Texas Health Science Center at Houston (UTHealth) and Baylor College of Medicine, led by Eric Boerwinkle, Ph.D., Richard Gibbs, Ph.D., and Bing Yu, Ph.D., have identified powerful predictors of congestive heart failure, a major cause of hospitalization and death in the United States. The discovery, published today in Science Advances, was made through an analysis of how gene mutations affect circulating metabolites
Using advanced stem cell technology, scientists from the Icahn School of Medicine at Mount Sinai have created a model of a heart condition called hypertrophic cardiomyopathy (HCM) — an excessive thickening of the heart that is associated with a number of rare and common illnesses, some of which have a strong genetic component. The stem cell lines scientists created in the lab, which are believed to closely resemble human heart
September is Thyroid Cancer Awareness Month, and physicians at the Mount Sinai Health System are sharing tips on prevention and urging high-risk groups to get screened. “High-risk populations are individuals who have a family history of thyroid cancer, and people who have had exposure to radiation, “ said Mike Yao, MD, Associate Professor of Otolaryngology, Icahn School of Medicine at Mount Sinai. “Early detection is critical because thyroid cancer has
Scientists have found a variation of the miR-182 gene in patients with primary open-angle glaucoma that results in this overexpression, said Dr. Yutao Liu, vision scientist and human geneticist in the Department of Cellular Biology and Anatomy at the Medical College of Georgia at Augusta University. Its impact appears to reduce the ability of the cells in the eye's trabecular meshwork to continually move the clear aqueous humor out of
Genetic profiling of cancer tumors provides new avenues for treatment of the disease, according to a study conducted by Sanford Health and recognized by the American Society of Clinical Oncology. In 2014, Sanford developed and launched the Genetic Exploration of the Molecular Basis of Malignancy in Adults, or GEMMA, to determine if evaluating genetic information could help customize treatment options for adult patients whose cancer had progressed after the first
Scientists at the Stowers Institute for Medical Research have reported a detailed description of how function-impairing mutations in polr1c and polr1d genes cause Treacher Collins syndrome (TCS), a rare congenital craniofacial development disorder that affects an estimated 1 in 50,000 live births. Collectively the results of the study, published in the current issue of PLoS Genetics, reveal that a unifying cellular and biochemical mechanism underlies the etiology and pathogenesis of
