genetic disease Articles
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Fierce Biotech`s 2022 Fierce 15
Innovation cannot happen in a silo. And this year we have mirrored this need, focusing more than ever before on diversity in management and geography across the biotech world, highlighting a broader range of teams, leaders and science in our Fierce 15 winning companies. And what a crop we have picked out as the honorees for 2022. Their scientific roots run deep. We have biotechs seeking cures ...
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Expanding Our Commitment to Rare Disease Therapeutics
Each year, the last day of February serves as a reminder to pause and reflect on the challenges and unique needs of patients and families living with rare diseases. It is an opportunity for all members of the patient, medical, and scientific communities to shine a light on the urgent need to improve the care and support for those impacted by such conditions. At Moderna, we are working to ...
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The Importance of DNA Modifying Enzymes in Genetic Information Maintenance and Expression
DNA modifying enzymes are a group of specialized proteins that play an essential role in the maintenance and expression of genetic information. These enzymes catalyze chemical reactions that modify the structure or sequence of DNA, including replication, repair, recombination, and transcription. In this article, we will explore the importance of DNA modifying enzymes and their potential ...
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Persistent gene editing therapy using LNP-delivered mRNAs
Gene editing technology, represented by CRISPR/Cas9, has greatly accelerated the development of gene therapy, bringing hope to many genetic diseases that otherwise had no cure. In June 2021, Intellia Therapeutics' NTLA-2001, a CRISPR gene editing therapy for the treatment of transthyretin amyloidosis (ATTR) invented by Nobel Laureate Jennifer Doudna, was proven to be safe and effective in a ...
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Barbara: CEFALY is a ‘Remarkable Breakthrough’
First Name: Barbara Age: 60 Location: Seattle Occupation: Retired medical assistant How long have you had migraines? I started suffering from migraines as a child. I grew up in the 60’s in Iowa, and at that time my parents nor I knew what migraines were or to seek treatment for such a medical problem as this. When I was 32 years old, I have a vivid memory of having a terrible migraine, ...
By CEFALY
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Building effective institutional frameworks to support pharmacogenetic research: an international empirical analysis
As science unravels the genetic basis of disease, the opportunities offered by pharmacogenetics and pharmacogenomics (PGx) for future healthcare become more and more apparent. The objective of this paper is to analyse the current state of PGx research and explore future strategies for more efficient research projects and supportive infrastructures. Based on internet searches and an online survey ...
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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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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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New Findings about BRD4 Protein You May Want to Know
A new study clarifies how BRD4 (a protein that scientists have studied for many years) directs the spatial organization of DNA in the cell nucleus (a key function of stem cells to differentiate into muscle cells), which promotes the understanding of certain cancers and complex congenital diseases. Since the way DNA is folded is essential for gene regulation, this research not only has ...
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PKU and MSUD screening for phenylketonuria and maple syrup urine disease
Phenylketonuria (PKU) and Maple syrup urine disease (MSUD), branched-chain ketoaciduria are genetically transmitted metabolic diseases. PKU results in elevated Phenylalanine levels due to deficient activity of the enzyme Phenylalanine hydroxylase. In the MSUD state, elevated levels of leucine (Leu), isoleucine (Ile), valine (Val), and alloiso-leucine can be detected in blood. The increased ...
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Introduction to Protein N-glycosylation
Glycosylation is one of the most important protein post-translational modifications in organisms, occurring in 50%-70% of proteins in cells. It is associated with many diseases as it can affect essential life activities, such as cell recognition, differentiation, adhesion, signal transduction, and immune response. Immune diseases, congenital sugar defects, and dozens of genetic diseases, as well ...
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Myths vs Facts: HPV and Cervical Cancer
Cervical cancer is the second most common cancer affecting and causing deaths among women in India. Cervical cancer is caused by the Human Papilloma Virus or HPV. The lower part of the uterus known as Cervix is affected due to HPV infection. This cancer develops very slowly and most of the times is asymptomatic during the development stage. HPV infection is a sexually transmitted infection (STI) ...
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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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SNP Array, A Powerful Tool for Diagnosis and Agrigenomics Research
Single-nucleotide polymorphisms (SNPs) are a kind of DNA polymorphisms caused by single-nucleotide variants in both coding and non-coding regions, which are the most common and smallest variants. There are more than 3 million SNPs in the human genome with an average of 1 in 500-1000 base pairs. SNP microarrays are capable of detecting a large number of subtle DNA alterations and/or abnormal ...
By CD Genomics
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Introduction to AAV as a Gene Therapy Vector, Part 1
What are AAVs? and what makes them good candidates for gene therapy? In two previous posts, we introduced gene therapy, a method for curing genetic diseases by providing healthy copies of defective genes, and Adeno-associated virus (AAV) capsids, the gene therapy delivery system Dyno focuses on. In those posts, we also discussed how natural variants of AAV did not evolve for the specialized ...
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Targeted Region Sequencing in Human Disease Studies and Clinical Care
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 ...
By CD Genomics
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Unraveling the Genetic Code: An Introduction to Genome-Wide Association Studies
Introduction to Genome-wide Association Studies A genome-wide association study is what the National Institutes of Health call "a study of common genetic variation across the whole human genome with the goal of finding genetic links to observable traits."Even though family linkage studies and studies with tens of thousands of gene-based SNPs measure genetic variation across the genome, the ...
By CD Genomics
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The Netflix of Digital Biology? Recursion Is Reimagining Drug Discovery
By applying a proprietary operating system to drug discovery, the Utah clinical-stage biotechnology company expects to turn drug discovery from sequential testing into a search problem. Unmet clinical needs often serve as the fundamental driving force behind drug discovery programs. During lead discovery, an intensive search ensues to find a drug-like small molecule or biological therapeutic, ...
By Recursion
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Genetic Link to Parkinson`s Disease Is Best Hope for the Future in Rare Disease
Collaboration Announced Between Researchers at University of California Irvine and Population Diagnostics, Inc. at Rare Disease Event in Southern California The Spooner Girls Foundation , University of California, Irvine School of Medicine, (UCI) and Population Diagnostics, Inc. (PDx), announced today a collaborative research initiative focused on the NUBPL gene at the Spooner family’s ...
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Utilizing Zebrafish Genome Editing Services: Shaping the Future of Genomic Research
Within the rapidly advancing realm of biotechnology, zebrafish genome editing services are carving a niche, heralding a new epoch in genomics and cellular research. This development is driving innovative research approaches, empowering researchers to create effective models to comprehend complex genetic interactions and responses quickly and efficiently. Zebrafish, also known as Danio rerio, ...
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