Articles tagged with Mendelian Disease
A new study by Mass General Brigham researchers found that genetic variants thought to always cause inherited blindness occur in only 28% of people who carry them. The findings challenge traditional models of rare disease genetics, suggesting a need for updated understanding and potentially impacting the development of new treatments.
A new study reveals that long-read sequencing can diagnose rare genetic diseases more accurately, quickly, and affordably. By analyzing longer stretches of DNA, this technology eliminates gaps and provides direct phasing data, improving the diagnostic yield of genetic sequencing.
Researchers developed a novel computational pipeline to identify protein biomarkers linked to Alzheimer's risk, offering insights into disease mechanisms and potential therapeutic targets. The pipeline, MR-SPI, can predict 3D structural changes in proteins, providing a deeper understanding of the molecular mechanisms driving disease.
Researchers at KAUST have developed NanoRanger, an accurate and rapid method for genetically diagnosing Mendelian genetic disorders. This breakthrough enables diagnosis in just 12 minutes, providing a detailed picture of the genomic disorder.
A machine learning system called AI-MARRVEL, developed by Baylor College of Medicine, has shown promising results in diagnosing rare Mendelian disorders. The system consistently ranked diagnosed genes as the No. 1 candidate in twice as many cases than other benchmark methods.
Researchers identified 35-63 proteins affecting severe COVID-19, hospitalization, SARS-COV2 infection, and 4-32 proteins for healthspan and lifespan. Novel proteins involved in inflammation, immunity, apoptosis and metabolism were also found.
A recent study published in Genome Medicine has identified 103 genes that cause inherited diseases when mutated can also increase cancer risk. The research found that individuals with these genes are more likely to develop cancer than those without them.
A NUS study highlights the crucial role of maternal genes in genetic diseases in children, shedding new light on previously unsolved conditions. The researchers found that SMCHD1 protein from mothers controls gene expression in offspring, leading to skeletal defects.
Researchers found that recessive Mendelian disease-causing genes were less likely to be swept out of populations, potentially due to genetic interference. This allowed these genes to persist longer in human populations despite their harmful effects.
The NIH is awarding $80 million to the Mendelian Genomics Research Consortium to develop new methods and approaches for identifying genetic causes of single-gene diseases. The consortium aims to significantly increase the number of Mendelian disorders with known genetic causes.
Scientists from the University of Chicago have developed a unique genetic map that identifies associations between single-gene diseases and complex diseases. The study analyzed over 120 million patient records and found statistically significant correlations between 2,909 disease pairs, including previously unknown comorbidities such a...
Scientists have identified two genetic mutations that cause metachondromatosis, a rare heritable disorder leading to bony growths, by sequencing the entire genome of one individual. The study uses whole-genome sequencing technology and classic genetic approaches to provide faster identification of Mendelian genes.