Tag: gene

Rare diseases are a global healthcare challenge, with almost 10,000 conditions that affect 6% of the Western population. There is a genetic component to more than 80% of rare diseases, and these conditions can be disabling and costly to treat. With the development of next-generation sequencing in recent years, the diagnosis rates of rare diseases

In three studies from the Cancer Cell Map Initiative, researchers uncovered previously unknown interactions between proteins that drive cancer and combined this new data to generate a map of protein pathways informing cancer outcomes. Their approach offers a framework that could improve scientists' understanding of cancer progression and aid in identifying therapeutic targets. For many

People with rare disorders that cause shortened telomeres — protective caps that sit at the end of chromosomes — may be more likely to have blood cancers such as leukemia or myelodyplastic syndrome. Now, Johns Hopkins Medicine scientists have discovered several "self-correcting" genetic mutations in bone marrow that may protect such patients from these cancers.

Stroke, a devastating condition that causes damage to the brain due to interruption of blood supply, is often considered an adult disease. But children can experience strokes as well. Sadly, pediatric stroke affects one in every 4,000 newborns and an additional 2,000 older children each year. The most common cause of stroke in children is

CRISPR Researchers from Aarhus University and University of Copenhagen have developed a new method, which makes CRISPR gene editing more precise than conventional methods. The method selects the molecules best suited for helping the CRISPR-Cas9 protein with high-precision editing at the correct location in our DNA, the researchers explain. It eventually became a Nobel prize-winning

Type 1 diabetes (T1D) is an autoimmune disease in which a misdirected immune system gradually destroys healthy pancreatic islet β cells, resulting in a lack of insulin. The exact cause of T1D remains unknown. However, β cell-reactive autoantibodies can be detected in circulating blood months to years before diagnosis, raising the possibility of intervening to

A new study published in the journal Science Immunology analyzed lung epithelial cells from patients infected with COVID-19 and found the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) induces the complement system as a dangerous weapon for viral infection. The complement system is an extension of the innate immune system to recognize pathogens and remove

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

Findings A UCLA research team has shown that using a truncated form of the CD4 molecule as part of a gene therapy to combat HIV yielded superior and longer-lasting results in mouse models than previous similar therapies using the CD4 molecule. This new approach to CAR T gene therapy — a type of immunotherapy that

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

A new Penn State and Cornell study describes an effort to produce the most comprehensive and high-resolution map yet of chromosome architecture and gene regulation in yeast, a major step toward improving understanding of development, evolution and environmental responses in higher organisms. Specifically, the study mapped precise binding sites of more than 400 different chromosomal

As new variants of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continue to emerge, fueling the continued spread of the coronavirus disease 2019 (COVID-19) pandemic, a new study offers encouragement. Released as a preprint on the bioRxiv* server, the study reports the protection offered by antibodies elicited by natural infection against the newer variants

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

Strategies based on the use of gene therapy to mitigate the effects of mutations that cause blindness are undergoing rapid development. Novel gene vectors now achieve widespread gene delivery and reduce the risks associated with these approaches. The incidence of genetic mutations that result in rapid deterioration of the ability to see is larger than

Researchers from Indiana University have identified key genetic changes in the interstitial kidney tissue of people with diabetes, a discovery that signifies the potential for a revolutionary new genetic approach to the treatment of kidney disease. They will contribute their findings to the Kidney Precision Medicine Project’s (KPMP) “cell atlas,” a set of maps used

Researchers from Uppsala University show in a new study that inhibition of the protein EZH2 can reduce the growth of cancer cells in the blood cancer multiple myeloma. The reduction is caused by changes in the cancer cells' metabolism. These changes can be used as markers to discriminate whether a patient would respond to treatment

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

Research has repeatedly shown that women have a stronger immune response to infections than men. Studies from as early as the 1940s have elucidated that women possess an enhanced capability of producing antibodies. Image Credit: Peterschreiber.media/Shutterstock.com Even though this builds an effective resistance barrier to infections, women have a higher predisposition to autoimmunity caused by

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

Gene expression can be regulated by various cellular processes with the aim to control the amount and nature of the expressed genes. This article aims to describe the regulatory mechanisms that control gene expression in both eukaryotes and prokaryotes. BitCyte | Shutterstock Gene expression is controlled with the help of regulatory proteins at numerous levels.