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Rare Disease Articles & Analysis: Older
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Precision-Cut Lung Slices (PCLS) have emerged as a innovative ex vivo model that allows researchers to explore deep into lung physiology, disease mechanisms, and pharmacological responses. By offering a unique combination of biological complexity and controlled experimental conditions, PCLS serve as a critical bridge between the limitations of traditional in vitro cell cultures and the ...
Clinical trials are the backbone of modern medicine, responsible for bringing innovative, safe, and efficient treatments to market after rigorous testing and evaluation. However, the conventional process of conducting these trials has often been long, expensive, and fraught with inefficiencies¹. The advent of predictive analytics is reshaping the landscape of clinical trials, ushering in a ...
In response to the emerging needs in global healthcare, SOPHiA GENETICS has just revealed the New Generation SOPHiA DDM™ Platform, aiming to stay at the forefront of precision medicine and address today the healthcare needs of tomorrow. ...
Introduction to Variant Analysis Rare DNA changes within a population of cells are the first manifestations of mutations, which are the fuel for evolution. ...
Rare diseases, also known as orphan diseases, affect a small percentage of the population, making them particularly challenging to diagnose and treat. ...
Alongside the drug-target relationship, the analysis of the drug-disease relationship is equally important. This encompasses the understanding of how a drug's mechanism of action aligns with the underlying pathophysiology of a particular disease. By carefully examining the complex interplay between a drug and the disease it aims to treat, ...
Karyotype analysis can detect whether there are abnormalities in chromatin length, centromere position, the ratio of long and short arms, and the presence or absence of satellites. Many rare diseases have obvious manifestations of chromosomal structural abnormalities, making it a strategy to determine the cause of diseases from a macroscopic ...
Rare diseases are characterized by their low prevalence, affecting a small number of people across the world. ...
Imagine tiny bubbles, smaller than a red blood cell, carrying powerful medicines directly to diseased cells. This isn't science fiction, it's the cutting edge of drug delivery with drug-loaded liposomes. ...
Rare diseases, also known as orphan diseases, are a diverse group of disorders that affect a small percentage of the population. ...
GalNAc can bind to the highly expressed sialic acid receptors in the liver and guide the siRNA bound to itself into liver cells, which has good application potential in treating liver-targeted diseases. GalNAc has become a prominent delivery carrier and has been applied to a variety of drugs. Clinical indications for siRNA drugs siRNA drugs are most widely used in oncology and ...
The diagnosis and treatment of rare diseases have long been a daunting challenge due to their complex and often undefined nature. ...
What is cystic fibrosis? Cystic fibrosis (CF) is a rare genetic disorder that affects the lungs, digestive system, and other organs. ...
Syndrome drugs. Rett syndrome is a rare disease with a spectrum of cognitive, motor, and autonomic symptoms. It is a complex, rare neurodevelopmental disorder usually caused by genetic mutations in the MECP2 gene. ...
In recent years, scientific advances in viral vector engineering, rare disease genome identification, and gene editing are ushering in a new era of viral gene therapy. ...
Cell and gene therapies for various rare diseases are currently undergoing clinical trials worldwide. The rapid development in this field has led to an increase in regulatory scrutiny and product characterization requirements, as well as a bottleneck in viral vector supply. ...
With smaller accessible markets (due to smaller patient volumes and higher incidence of rare disease), specialty areas like pediatrics have been overlooked and under-addressed by industry and health tech. ...
A rare disease is any disease that affects a very small percentage of the population. ...
Abnormalities in muscle function are observed in many inherited or acquired diseases, such as muscular dystrophy, chronic obstructive pulmonary disease, and congestive heart failure. ...
In a fast and economical manner, targeted region sequencing is able to obtain the complete catalog of disease genes, allowing us to see the differences among thousands of people to discover critical genes that cause human disease, such as cancer, heart disease, autism, and schizophrenia. ...