The eyes are our most important sensory organs, both complex and sensitive. Many eye diseases may affect our vision, bringing terrible consequences to the way we perceive the world around us. These include harmless eye diseases such as chronic dry eye, vitreous opacities, and strabismus, as well as cataracts, glaucoma, and macular degeneration. This blog will bring helpful knowledge about glaucoma.

What is glaucoma?

Glaucoma is a group of eye diseases characterized by damage to the optic nerve, usually due to high intraocular pressure (IOP). It is often referred to as the "silent thief of sight" because it can cause irreversible vision loss without any symptoms until it's too late.

Causes of glaucoma

Glaucoma is mainly caused by the increase in intraocular pressure (eye pressure). The anterior chamber located in front of the eye is filled with clear secretion (aqueous humor) that constantly flows in and out through the anterior chamber angle. If the flow of aqueous humor is blocked and cannot be drained, it will lead to an increase in eye pressure, causing compression of the optic nerve, poor blood circulation, and damage to the optic nerve.

People with high myopia and long-term use of corticosteroid medicines, especially eye drops, or a history of eye trauma, are more likely to develop glaucoma. In addition, systemic diseases such as migraines, Raynaud's phenomenon, low blood pressure, high cholesterol, diabetes, and others are also associated with an increased risk of glaucoma.

Symptoms of glaucoma

Glaucoma, apart from when it occurs causing a sudden rapid increase in eye pressure, other symptoms are usually only noticeable when significant damage is done to the optic nerve and/or retina. The typical symptoms include watery eyes and vision loss, such as distorted peripheral vision and narrowing of the outer visual field. Glaucoma can sometimes cause central vision loss or the appearance of colorful halos when looking at bright light sources.

During an acute episode or glaucoma attack, eye pressure will suddenly and sharply rise. This may also be accompanied by symptoms such as red eyes, hardening of the eyeball, eye pain and headaches, nausea, vomiting, and fixed pupils (pupils do not react to light), and sudden blindness may also occur.

Current research on glaucoma

Currently, there are some great advancements in glaucoma research, including:

l "The Role of Inflammation in the Pathogenesis of Glaucoma" - This research investigates the role of inflammation in the development and progression of glaucoma, suggesting potential anti-inflammatory therapies as a treatment strategy.

l "Advances in Imaging Technologies for Glaucoma Diagnosis and Monitoring" - This study reviews recent advances in imaging technologies for the early detection and monitoring of glaucoma, highlighting the importance of early diagnosis in preventing vision loss.

l "Genetic Risk Factors for Glaucoma and Exfoliation Syndrome Identified by Genome" - This research published on PubMed Central explores the genetic risk factors associated with glaucoma, providing insights into the underlying genetic mechanisms of the disease.

Research into glaucoma has made significant strides in recent years, bringing hope to those affected by this debilitating disease. 

Type 1 diabetes mellitus (T1DM) culminates in the autoimmune destruction of the pancreatic β-cells, leading to insufficient production of insulin and development of hyperglycemia. Diagnosis of diabetes can help researchers efficiently analyze the causes of diabetes and advance the development of therapies. Ace Therapeutics can provide diagnostic development service of T1DM with more efficient function analysis.

Overview of T1DM Diagnosis

T1DM is a chronic autoimmune disease characterized by insulin deficiency as a consequence of autoimmune-mediated destruction of insulin producing pancreatic β-celIs. At the time of diagnosis, 80% to 90% of β-cells mass has been lost. Biomarkers including a combination of glucose, glycated molecules, C-peptide, and autoantibodies have been well established for the diagnosis of T1DM.

Source from: c peptide biomarker

Gene editing, one of the key tools in synthetic biology, allows scientists to manipulate the DNA of organisms to create new functions, optimize metabolic pathways, and engineer new traits. In recent years, the development of new gene editing tools, such as CRISPR-Cas9, has made gene editing faster, cheaper, and more precise than ever before.

Methods for gene editing 

l CRISPR-Cas9

CRISPR-Cas9 is a revolutionary gene editing tool that uses a molecular complex composed of a guide RNA (gRNA) and a Cas9 protein. The gRNA guides the Cas9 protein to a specific location in the genome where it can make a double-stranded break. This break is then repaired by the cell's own DNA repair machinery, which can introduce desired genetic changes.

l Multiplex Genome Editing by Natural Transformation (MuGENT)

MuGENT is a gene editing method that utilizes the natural transformation process in bacterial cells to introduce multiple edits into the genome simultaneously. This technique is particularly useful for making multiple changes in the bacterial genome without the need for complex molecular biology techniques.

l Genome synthesis

Genome synthesis is the process of creating artificial DNA sequences in a laboratory. This technique is highly valuable for gene editing as it allows scientists to design and engineer synthetic genes or whole genomes for various purposes, including gene therapy, drug development, and studying genetic diseases.

l Homologous Recombination (HR)

Homologous recombination is a natural DNA repair process that can be harnessed for gene editing. In this method, a piece of DNA containing the desired genetic changes is introduced into the cell, and the cell uses its homologous recombination machinery to incorporate this DNA into the genome, replacing the target sequence.

Each of these gene editing methods has its advantages and limitations, and the choice of method depends on the specific requirements of the research or application. CD Biosynsis has years of experience in gene editing, Engineered Bacteria for Research and strain engineering. Their experts use the latest tools and techniques to ensure that their services are precise, efficient, and cost-effective. Whether researchers are developing new strains for biotechnology, agriculture, or medicine, the company can help clients achieve their goals and drive innovation in their industry.

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 countless individuals and their families who have suffered from the uncertainties and lack of answers associated with these conditions.

What are rare diseases?

Rare diseases are a diverse group of disorders that affect a small percentage of the population, often occurring as a result of genetic mutations. With over 7,000 rare diseases identified worldwide, their rarity makes them particularly challenging to diagnose accurately. Traditional diagnostic methods often involve time-consuming and costly procedures, such as multiple invasive tests, leading to delayed or missed diagnoses. Advances in genetic sequencing in molecular diagnostic techniques have greatly improved scientists' ability to understand rare diseases.

Whole genome sequencing for rare diseases

Whole genome sequencing, or the comprehensive analysis of an individual's complete set of genes, has emerged as a game-changer in diagnosing rare diseases. WGS allows the analysis of unknown etiological variants in the coding and noncoding regions of rare disease genomes, and the use of WGS can play a synergistic role in diagnosis and etiological discovery in routine healthcare. The application of existing WGS technologies to rare disease cases has proven to be useful in identifying the cause of disease by detecting multiple and comprehensive mutations at the whole-genome level, providing invaluable insights into the underlying molecular mechanisms of various rare diseases and opening up new possibilities for personalized medicine.

Whole genome sequencing offers several advantages over traditional genetic testing methods. For starters, it allows researchers and scientists to examine not just a handful, but all of an individual's genes. This comprehensive analysis helps in identifying rare genetic variations that might have been missed by targeted genetic tests. Moreover, by analyzing the entire genome, researchers can study the interactions between different genes and understand how different mutations work together to cause a disease.

The power of whole genome sequencing lies in its ability to provide precise and accurate diagnoses. In some cases, these diagnoses can even lead to the development of targeted therapies tailored specifically to the individual's unique genetic makeup.

Beyond diagnosis, whole genome sequencing also plays a crucial role in advancing the understanding of rare diseases. By studying the genetic variations found in patients, researchers can gain insights into the underlying biological processes and pathways involved in these diseases. This knowledge not only helps in developing novel treatment strategies but can also aid in identifying potential biomarkers for early detection or monitoring disease progression.

Key whole genome sequencing methods

The key whole-genome sequencing methods include human whole-genome sequencing and Phased sequencing. Human whole-genome sequencing offers the most detailed view of the human genetic code and valuable information for the study of rare diseases and phased sequencing distinguishes between alleles on homologous chromosomes to produce genome-wide haplotypes, which are often important for the study of genetically rare diseases.

With these whole genome sequencing methods, researchers can achieve:

l Identification of structural variants in rare disease research, including deletions, insertions, inversions, duplications, copy-number variants, and translocations.

l Detection of small variants in challenging regions of the genome.

l Capture the full length and sequence of repeat expansions.

l Phasing rare disease variants across alleles.

In conclusion, WGS provides great convenience for research and diagnosis of rare disease genomics.