Rare Disease Day 2017 With A Commitment To Provide New Insights Into Rare Diseases Articles & Analysis: Older
46 articles found
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. The research of genomic variation between species and individual organisms has been revolutionized by next-generation sequencing (NGS) technologies. Variant detection and analysis refer to the sequencing and difference analysis of a genome ...
Rare diseases, also known as orphan diseases, affect a small percentage of the population, making them particularly challenging to diagnose and treat. However, thanks to advancements in medical research and technology, significant progress has been made in the field of rare disease research, from developing accurate diagnostic tools to making effective small-molecule drugs. One of the biggest ...
In the vast and ever-evolving field of medicine, the discovery of new drugs has been a critical pursuit, offering hope and relief to countless individuals suffering from various ailments. The process of drug discovery is a complex and multifaceted endeavor, involving the integration of diverse scientific disciplines, including biology, chemistry, and computational science. At the heart of this ...
Karyotype analysis refers to the pairing and grouping of chromosomes to reveal whether the organism accords with the inherent chromosomal characteristics, to determine if the organism has chromosomal abnormalities. 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. ...
Rare diseases are characterized by their low prevalence, affecting a small number of people across the world. These diseases often come with significant challenges, including accurate diagnosis, availability of effective treatments, and limited resources for research and development. However, recent advancements in diagnostics technology hold promise for speeding up the field of rare disease ...
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. What are liposomes? Liposomes are microscopic spheres made from phospholipids, the same fatty molecules that make up cell membranes. These phospholipids naturally arrange themselves in ...
Rare diseases, also known as orphan diseases, are a diverse group of disorders that affect a small percentage of the population. Due to their low prevalence and limited understanding, treating and finding cures for these conditions present significant challenges. However, preclinical animal models have emerged as invaluable resources for advancing research and unraveling the mysteries surrounding ...
siRNA, with a molecular weight of about 13 kDa, recruits the RNA-induced silencing complex (RISC) to mRNA through base pairing, thereby inhibiting protein translation. The mRNA is targeted for cleavage through the catalysis of the RISC protein Ago2, a member of the Argonaute family. In addition, other Ago proteins (Ago1, Ago3, and Ago4) catalyze endonuclease-mediated degradation of non-specific ...
The diagnosis and treatment of rare diseases have long been a daunting challenge due to their complex and often undefined nature. However, with recent advancements in technology, specifically in the realm of genomics, whole genome sequencing (WGS) has emerged as a powerful tool that has revolutionized the diagnosis and management of rare diseases. This groundbreaking technique offers hope to ...
What is cystic fibrosis? Cystic fibrosis (CF) is a rare genetic disorder that affects the lungs, digestive system, and other organs. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a protein that regulates chloride ions transport across cell membranes. These mutations cause the CFTR protein to be either absent or not function ...
The FDA's Center for Drug Evaluation and Research (CDER) regulatory approval of a total of 26 NME (New Molecular Entity) drugs in the first half of 2023. It is worth noting that the 26 drugs approved include 4 peptide drugs, accounting for 15% of the total. In the past 2022, the FDA has approved only three peptide drugs: Tirzepatide, Lutetium 177Lu Vipivotide Tetraxetan and Terlipressin, of which ...
In many cases, gene therapy requires a vector to deliver the gene therapy drug to the target cell. Viral vectors have been one of the most widely studied vectors due to their outstanding transduction efficiency and other significant advantages. Viral vector-based gene therapy has now achieved good clinical results. More than a dozen viral gene therapy products have been approved for the treatment ...
Why need viral vector characterization? 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. The manufacturing processes and analytical tools for gene therapy viral vectors need ...
I recently had the pleasure of attending the IPEG annual meeting in Sorrento, Italy. The collegiality of the surgeons attending the conference was fantastic, and the views of Sorrento and the Island of Capri were stunning. 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 ...
Did you know that almost 36 million people in the EU live with a rare disease and the number goes up to 350 million worldwide? These diseases are an important cause of chronic illness, disability, and premature death in children as well as adults. A rare disease is any disease that affects a very small percentage of the population. It has no single accepted definition; however, countries ...
Cardiovascular safety liabilities caused 52.3 % of 44 marketed data from 1980 to 2011, and cardiovascular disease remains the leading cause of death globally, yet only 8.7% of cardiovascular drugs successfully pass clinical trials. These statistics demonstrate the need to address a patient’s specific genetic make-up and phenotype by adopting a personalized treatment methodology for ...
Introduction to target region sequencing Since the introduction of Sanger sequencing in 1977, genetic sequencing has been greatly improved with costs simultaneously falling. With the ability to rapidly produce large volumes of sequencing data, next-generation sequencing (NGS) enables researchers to obtain whole genome or targeted regions of samples. Targeted region sequencing is preferred by ...