Genetics

— Poor Air Quality Amplifies Risks from Genetic Predispositions Are there any inflammatory diseases that aren’t aggravated by air pollution? As more research emerges, it's becoming increasingly difficult to identify any. A recent study has unveiled a new association between exposure to key air pollutants and the onset of psoriasis in Great Britain. Leveraging data from the U.K. Biobank, with a median follow-up period of nearly 12 years, scientists identified that annual exposure to

— British Data Highlights the Interplay Between Environmental and Genetic Factors The risk of new-onset systemic lupus erythematosus (SLE) substantially increases with exposure to common air pollutants, especially among those with a known genetic predisposition, according to data from the U.K. Biobank study. An analysis involving approximately 460,000 individuals from this British healthcare database revealed that higher estimated exposure to particulate matter and nitrogen oxides increased the

— Moderate Link Between Parents' and Children's BMI at 17 Years Old Teens with parents who had obesity at the same age were significantly more likely to experience similar issues, as suggested by a large-scale Israeli cohort study. Analyzing data from around 450,000 participants, researchers led by Gabriel Chodick, PhD, of Tel Aviv University, observed that 76.6% of 17-year-olds whose parents struggled with obesity at age 17 also had either obesity or were overweight. In stark

— Phase II trial reveals brigatinib surpasses historical benchmarks by reducing 10% of targeted tumors A Phase II platform trial presented promising findings for patients suffering from NF2-related schwannomatosis with advancing tumors. The ALK inhibitor brigatinib (Alunbrig) demonstrated potential across various tumor types, showing measurable tumor shrinkage and enhancements in hearing, along with improvements in other clinical parameters. Among 40 individuals diagnosed with either vestibular

Zinc Finger Protein 341 (ZNF341) Role in the Body The ZNF341 gene carries the blueprint for a transcription factor, a type of protein that binds to specific DNA sequences to regulate gene activity. The ZNF341 protein is believed to control the function of the STAT1 and STAT3 genes, contributing to the production of their respective proteins. These proteins are critical players in immune system processes. They influence cellular mechanisms that help the body defend against viruses, bacteria,

Description Neutral lipid storage disease with myopathy is a rare disorder where fats (lipids) accumulate in different parts of the body, including various organs and tissues. Individuals with this condition often experience muscle weakness (myopathy) caused by fat buildup in muscle cells. Other potential symptoms may include fatty liver, an enlarged, weakened heart (cardiomyopathy), inflammation of the pancreas (pancreatitis), reduced thyroid function (hypothyroidism), and sometimes type 2

Overview Malonyl-CoA decarboxylase deficiency is a rare metabolic disorder that impairs the body’s ability to convert specific fats into usable energy. This condition generally presents its symptoms in early childhood. In nearly all cases, affected children experience developmental delays. Additionally, symptoms may include poor muscle tone (hypotonia), seizures, digestive issues such as diarrhea and vomiting, as well as episodes of low blood sugar (hypoglycemia). A notable complication is

Overview Congenital adrenal hyperplasia (CAH) stemming from 11-beta-hydroxylase deficiency is part of a group of disorders collectively referred to as congenital adrenal hyperplasia. These conditions impact the adrenal glands, which are small structures situated above the kidneys that produce vital hormones essential for the body’s proper functioning. In individuals with CAH caused by 11-beta-hydroxylase deficiency, the adrenal glands generate excessive androgens, a category of hormones

— Nearly All APOE4 Homozygous Individuals Develop Alzheimer’s Emerging evidence from multiple research cohorts suggests that carrying two copies of the APOE4 gene variant is more than just a risk factor; it may drive a unique genetic form of Alzheimer’s disease. Data on clinical features, biomarkers, and pathology indicate that APOE4 homozygous individuals could have a distinct genetic trajectory in Alzheimer’s onset, according to Juan Fortea, MD, PhD, from the Hospital of Sant Pau in

Scientific team headed by Luís Graça, leading a Portuguese research group at iMM, uncovers how antibody production is controlled in different contexts, opening doors for new allergy treatments without compromising immune defense Antibodies play a crucial role in defending our bodies against infections, and their production is meticulously controlled by a specialized type of immune cells called follicular helper lymphocytes. A research group led by Luís Graça, group leader at Instituto de

This impactful clinical trial aimed to go beyond outlining disparities in outcomes; it took a proactive step toward addressing these gaps to foster equity in breast cancer care. Its findings show that research, when specifically tailored to underrepresented populations, yields positive results. In a study carried out by the ECOG-ACRIN Cancer Research Group (ECOG-ACRIN), Black patients with early-stage breast cancer who received docetaxel chemotherapy every three weeks experienced fewer

Advancing Precision Medicine by Integrating Genomic, Transcriptomic, Proteomic, and Clinical Data While smoking remains the leading cause of lung cancer, a rising number of cases in non-smokers—particularly among women—has been documented. Roughly 80% of lung cancer patients who never smoked receive treatments targeting specific protein mutations, like those in the EGFR and ALK genes. For those without such mutations, however, treatment often involves chemotherapy, which typically produces

— Ongoing Quest for Reliable CIDP Biomarkers Accurate diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP) is often delayed or missed entirely, with standard options like intravenous immunoglobulin (IVIG), steroids, and plasma exchange offering inconsistent success, especially for certain CIDP subtypes. Although promising, validated biomarkers remain elusive, which could potentially revolutionize both diagnosis and therapy for this complex condition. "Biomarkers can be