Rare Diseases Articles
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Karyotype Analysis for Rare Disease
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. ...
By Protheragen
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Innovative Diagnostic Development Urges Rare Disease Therapies
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 ...
By Protheragen
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Drug-Loaded Liposomes: Tiny Spheres with Big Potential
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 ...
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Preclinical Animal Models as A Resource to Explore Rare Diseases
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 ...
By Protheragen
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Advances in siRNA Drug Research
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 ...
By BOC Sciences
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Whole Genome Sequencing for Rare Diseases
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 ...
By Protheragen
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Gene Therapy for Cystic Fibrosis
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 ...
By Protheragen
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FDA Approved Peptide Drugs in the First Half of 2023
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 ...
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Viral Vector Characterization: Why and How
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 ...
By Protheragen
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Development of Gene Therapy Viral Vectors for Rare Diseases
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 ...
By Protheragen
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IPEG 2023: Setting a Foundation for Healthcare Transformation
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 ...
By Caresyntax
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Enzymes for Disease Diagnosis: An Overview
Enzymes are protein molecules that catalyze chemical reactions in living organisms. They are involved in many metabolic processes and play a critical role in maintaining the health of the body. In recent years, enzymes have been widely used in disease diagnosis, providing a quick and accurate way to detect and monitor diseases. Enzymes for disease diagnosis can be divided into two categories: ...
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How Whole Exome Sequencing Works: Principles and Workflow Demystified
As the development of biological experimental technology, especially gene-sequencing technology, both laboratory and clinical researchers realize that genome sequencing is the best way to analyze the etiology, pathophysiology, treatment and prognosis of diseases. Researches further demonstrate that there are only 30 million base pairs of genes that contain essential information of proteins for ...
By CD Genomics
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Evolutionary, Medical, and Clinical Applications of Whole Exome Sequencing
As we all know, proteins play important roles in human bodies since all physiologic events are related to the structural or mechanical functions of certain proteins. Studying the synthesis process of proteins is a way to study the etiology, pathophysiology, diagnosis, and treatment of certain diseases. The human genome contains approximately 3 billion base pairs of DNA. Among them, only about 30 ...
By CD Genomics
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Predicting cardiotoxicity with engineered 3D human cardiac tissue models
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 ...
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The University of Chicago - Case Study
The research goals of Carole Ober’s laboratory at the University of Chicago are to identify genetic variants that influence gene expression and epigenetic patterns in tissues relevant to complex phenotypes, especially related to asthma and fertility. The lab uses both freshly isolated cells, as well as tissue and cell culture models of gene-environment interactions to explore ...
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Recursion Pharmaceuticals Puts Strength on Full Display
The drug developer's latest capital raise, a $150 million private placement, comes during a difficult market environment. The strongest companies can raise money in any environment. Recursion Pharmaceuticals (RXRX) - Get Free Report recently raised $150 million in gross proceeds from a private placement of common stock, including half from a single fund that has never before invested in the ...
By Recursion
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Clinical CRISPR Success Demonstrates Need for Quality Control
The Clinical CRISPR Successes Are Stacking Up. But Where’s the Emphasis on Quality Control? In mid-September, Intellia released some promising data on two of their CRISPR-based therapeutics. These results are a significant milestone for genome editing and validation of its effectiveness in the clinic. However, the safety of CRISPR-based therapeutics has been a major concern and part of a ...
By CRISPR QC
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The Importance of Celebrating Progress for Your Child with Short Bowel Syndrome
“Parent” may very well be the most important and rewarding job title you will ever have. As a parent, you have three primary goals: (1) set a good example, (2) instill important values, and (3) encourage your child’s happiness. Navigating the early stages of child development and care can be both exciting and exhausting. Your precious bundle of joy comes into this world and ...
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Essential Clinical Trial Systems for Small, Midsize, and Large Pharma
Revisiting the “why” behind decision making can be a helpful exercise in all aspects of business. This is no less true for clinical operations executives when it comes to the clinical trial systems they employ to facilitate their teams’ work. The technology that supports clinical trial systems has evolved steadily over the past several decades, yet the ultimate goal of ...
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