familymednews.com
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 bearing in early childhood, with […]
Continue reading »
Skip to: Symptoms & Pathology Causes and Current Research Treatment Cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome, is a recently discovered autoinflammatory disease caused by mutations within the receptor-interacting serine/threonine-protein kinase 1 (RIPK1) gene. The exact prevalence of CRIA syndrome is still undetermined as it has only recently been identified as a disease. Seven people from three separate families in the U.S. […]
Continue reading »
A comprehensive map of genes necessary for cancer survival is one step closer, following the validation of the two largest CRISPR-Cas9 genetic screens in 725 cancer models, across 25 different cancer types. Scientists at the Wellcome Sanger Institute and the Broad Institute of MIT and Harvard compared the consistency of the two datasets, independently verifying the methodology and findings. The […]
Continue reading »
Researchers have identified a genetic signature with prognostic value for certain kinds of breast cancer. The discovery also contributes to a better understanding of the molecular mechanisms of pathological angiogenesis, the aberrant proliferation of blood vessels that occurs during cancer and other diseases. The research, published in the journal PLOS Genetics, combined a study of the genes involved in retinopathy, […]
Continue reading »
Researchers believe that autism is caused by mutations that occur sporadically in the egg or sperm or during pregnancy. Activity-dependent neuroprotective protein (ADNP) is a dominant gene whose de novo (during pregnancy) mutations are known to cause autism-related intellectual disabilities. A new Tel Aviv University study has found that ADNP mutations continue to occur in old age and accumulate in […]
Continue reading »
The constant battle against infectious pathogens has had a decisive influence on the human immune system over the course of our evolution. A key role in our adaptation to pathogens is played by HLA molecules. These proteins activate the immune system by presenting it with fragments of pathogens that have entered the body. People with a wide variety of different […]
Continue reading »
Researchers have revealed the initial results from the world’s largest comprehensive study of hypertrophic cardiomyopathy, an abnormal thickening of the heart that often goes undiagnosed and can prove deadly. The condition can present at any age, and it is the most common cause of sudden cardiac death in young athletes. The early findings from the $14.4 million study suggest that […]
Continue reading »
When young athletes experiences sudden cardiac death as they run down the playing field, it’s usually due to arrhythmogenic cardiomyopathy (ACM), an inherited heart disease. Now, Johns Hopkins researchers have shed new light on the role of the immune system in the progression of ACM and, in the process, discovered a new drug that might help prevent ACM disease symptoms […]
Continue reading »
In an unprecedented scale, researchers have begun to unravel the genetics that may predispose some individuals to develop kidney disease once they have diabetes, independent of the degree of blood sugar control. The findings appear in an upcoming issue of JASN. Many individuals with type 1 diabetes develop kidney disease despite adequate blood sugar control, while others maintain normal kidney […]
Continue reading »
The U.S. Preventive Services Task Force (USPSTF) has released a new Recommendation Statement for BRCA1/2 evaluation, urging the medical community to widen the parameters used to assess BRCA1 and BRCA2 mutation risks and increase the use of genetic counseling and testing for those with the highest risk. While the changes are beneficial, the recommendations still fail to address many persisting […]
Continue reading »