Tag: Genetic

In the two decades since the human genome was first sequenced, scientists have learned much about how the genome is organized and how widely it varies between people around the globe. A better view of how that genetic variation influences traits or disease risk could lead to new ways of diagnosing and treating disease, but

Chemical and biomolecular engineer Xue Sherry Gao of Rice University's Brown School of Engineering has won National Institutes of Health support for a new strategy to fight cystic fibrosis. The agency awarded Gao a four-year R01 grant of more than $2 million to adapt tools developed by her lab that increase the accuracy of CRISPR/Cas9-based

Scientists at UC San Francisco, UC Berkeley and UCLA have received U.S. Food and Drug Administration approval to jointly launch an early phase, first-in-human clinical trial of a CRISPR gene correction therapy in patients with sickle cell disease using the patient's own blood-forming stem cells. The trial will combine CRISPR technology developed at Innovative Genomics

Using genetic engineering, researchers at UT Southwestern and Indiana University have reprogrammed scar-forming cells in mouse spinal cords to create new nerve cells, spurring recovery after spinal cord injury. The findings, published online today in Cell Stem Cell, could offer hope for the hundreds of thousands of people worldwide who suffer a spinal cord injury

Several genetic variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) have risen to prominence during the course of the coronavirus disease 2019 (COVID-19) pandemic, one of which is the UK variant – termed B.1.1.7 by the Centers for Disease Control and Prevention (CDC). This variant is associated with increased transmissibility compared to the wild-type

The most frequently mutated gene in human cancers is called p53. Patients with Li-Fraumeni syndrome, which is a rare disorder that increases the risk of developing several types of cancer, often have an increased risk to develop cancers at early ages if they inherit p53 mutations. Recent studies suggest that some individuals with inherited p53

Amyloid plaques are aggregates of misfolded proteins that form in the spaces between nerve cells. These abnormally configured proteins are thought to play a central role in Alzheimer's disease. The amyloid plaques first develop in the areas of the brain concerned with memory and other cognitive functions. The amyloid hypothesis Amyloid plaques form when pieces

X-linked hypophosphatemia (XLH) is the most common cause of hereditary rickets in children. Its early recognition is crucial to appropriate pediatric management and surveillance for complications related to the disease as well as to its treatment. Diagnosis The clinical features of rickets is the bowing of the lower extremity bones following the initiation of weight

“You are what you eat.” This popular phrase truly describes the important role that diet plays in maintaining a healthy body and mind. Research increasingly suggests that certain food, nutrients or diet plans may have beneficial effects on the skin, while others may act as triggers of certain skin conditions or disease. Psoriasis is a

The isolation of DNA was successfully carried out in 1869. However, its sequencing had to wait until the Human Genome Project was completed in 2003, more than a hundred years later. vitstudio | Shutterstock Modern genomics dates back to the 1970s, but its foundation was laid at least twenty years before this, with the creation

A new genetic risk factor for Motor Neurone Disease (MND), which if treated could halt or prevent the degenerative condition, has been identified in so-called ‘junk DNA’ by scientists at the University of Sheffield. The newly discovered genetic changes are present in up to one percent of MND patients. The pioneering research, published in the

Cocaine addiction is a chronic disorder with a high rate of relapse for which no effective treatment is currently available. Scientists from the Institut Pasteur, the CNRS, Inserm and the Paris Public Hospital Network (AP-HP) recently demonstrated that two gene mutations involved in the conformation of nicotinic receptors in the brain appear to play a

New research presented at this year’s annual meeting of the European Association for the Study of Diabetes (EASD), held online this year, shows the importance of good cardiovascular health in preventing type 2 diabetes (T2D) among middle-aged individuals, regardless of any genetic predisposition they may have towards developing the disease. The study was conducted by

Capecitabine is a chemotherapy drug used for breast and colorectal cancer. It can extend survival rate by nearly 10%. However, recent studies revealed that almost 50% of patients develop palmar-plantar erythrodysesthesia, a skin reaction also called hand-foot syndrome with mild to serious symptoms. Up to 17% of these patients can have a burning pain in

How we adapt to aging late in life may be genetically influenced, according to a study led by a psychologist at the University of California, Riverside. The research, published in Aging Cell, has implications for how epigenetic factors relate to aging. Epigenesis is a process in which chemicals attached to DNA control its activity. Epigenetic

(HealthDay)—Different genetic test interpretations have been identified for genetic variants, and some of these can impact patient management, according to a research letter published online June 30 in the Annals of Internal Medicine. Jeffrey A. SoRelle, M.D., from the University of Texas Southwestern Medical Center in Dallas, and colleagues examined the prevalence of different interpretations

Women with early stage breast cancer who test positive for an inherited genetic variant are not always receiving cancer treatment that follows current guidelines, a new study finds. An inherited gene can increase risk of developing a second breast cancer, so strategies such as removing a woman’s breasts or ovaries are intended to prevent a

Studies that started in zebrafish have now pointed to a role for collagen secretion in a wide variety of clinical symptoms—and in a newly identified genetic syndrome. Ela Knapik, MD, associate professor of Medicine at Vanderbilt University Medical Center, and her colleagues discovered the syndrome caused by mutation of a single gene and named it

Researchers at the University of Bergen in Norway have identified new genetic signals for the regulation of how infants grow. This may be a crucial step in the fight against growth-related diseases. “A better understanding of the biology of infant growth is important as growth-related diseases such as obesity and malnutrition are global societal challenges,”

Australian scientists have led the development of the world’s most detailed gene map of the human retina, providing new insights which will help future research to prevent and treat blindness. The retina is the latest part of the human body and the first part of the eye to be mapped as part of the Human