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CF is a progressive geneticdisease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. These mutations can vary in severity and impact on CFTR function, from complete protein dysfunction to defects in protein folding, trafficking or regulation.
This progressive disease occurs when misfolded transthyretin (TTR) proteins form amyloid deposits in the heart, leading to cardiac dysfunction. BridgeBio has been highly active in the geneticdiseases space.
Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.
With the rapid development of biotechnology and molecular medicine, the introduction of mRNA as a vaccine or therapeutic agent enables the production of almost any desired functional protein/peptide within the human body.
MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare geneticdiseases. The new deal excludes oncology and other therapeutic areas outside the scope of geneticdisease.
Alternative Splicing is an extraordinarily complex process that requires the coordinated action of multiple proteins, each specialised in very specific functions. These proteins are assembled and matured, forming a kind of consortium of proteins that perform these gene reading functions.
Mutations can disrupt protein binding through a “burr effect” thus interfering with the regulation of cell growth Credit: Kümmel team/Oeckinghaus team Tuberous Sclerosis Complex (TSC) affects between one and two of every 10,000 new-born babies.
Scientists illuminate the protein’s role in rare geneticdiseases often diagnosed during infancy or childhood Scientists at Scripps Research have clarified the workings of a mysterious protein called G?o, o, which is one of the most abundant proteins in the brain and, when mutated, causes severe movement disorders.
oRNA molecules have been demonstrated to possess increased stability in vivo compared to linear mRNA and can potentially create more quantities of therapeutic proteins within the body. . By self-circularisation, Orna’s oRNA technology makes circular ribonucleic acids (oRNAs) from linear RNAs.
Progress in overcoming spinocerebellar ataxia, an intractable geneticdisease Credit: Associate Professor Takahiro Seki A research team from Kumamoto University, Japan has developed an animal model that reproduces motor dysfunction and cerebellar neurodegeneration similar to that in spinocerebellar ataxia (SCA) by inhibiting chaperone-mediated autophagy (..)
Research and development in the area is currently growing at a fast rate, and the National Institute of Health reports hundreds of clinical trials to test gene therapies for different geneticdiseases, immune system disorders, oncology treatments, neurogenerative diseases, infectious diseases, and more.
Preliminary results from the study — just the second to show that CRISPR-based gene editing can be delivered systemically and performed inside the body — found the treatment, NTLA-2002, reduced levels of the disease-causing protein, kallikrein, by 65% and 92% in the low- and high-dose cohort, respectively.
Thalassaemia is a severe geneticdisease that is characterised by significantly reduced production of functional beta-globin, a component of haemoglobin, the oxygen-carrying protein in the blood. Severely-affected patients need regular blood transfusions to maintain their haemoglobin levels.
“By combining Tevard’s ability to restore the production of critical proteins with Vertex’s clinical, regulatory, and manufacturing expertise, we hope to make an important difference for patients and their families.” The company is pioneering tRNA-based therapeutics for modulating mRNA function and curing several geneticdiseases.
The Cambridge, Massachusetts biotech has discovered that areas of the non-coding parts of the human genome – referred to by its chief executive Josh Mandel-Brehm (pictured above) as the “dark side” of the genome – actually produce regRNAs that control the expression of the 2% that codes for proteins.
Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of geneticdiseases by precisely upregulating protein expression, today … Continue reading → Stoke Therapeutics Announces Proposed Public Offering Stoke Therapeutics Announces Proposed Public Offering BEDFORD, Mass.–(BUSINESS
PKU is a rare geneticdisease that manifests at birth and is marked by an inability to break down phenylalanine, an amino acid that is commonly found in many foods. So far, subjects in Phearless have received doses of either 2e13 vg/kg or 6e13 vg/kg of BMN 307, although the protocol does include a third, higher-dose group.
DEB patients are also at an increased risk of aggressive skin cancer.DEB usually presents at birth and is caused by one or more mutations in the COL7A1 gene, which encodes type VII collagen (COL7), an important protein that helps connect, strengthen and stabilize the outer and middle layers of the skin.
Seattle biotech firm Shape Therapeutics has signed a deal potentially exceeding USD 3 billion with pharma giant Roche to bolster the development of gene therapies for Alzheimer’s and Parkinson’s disease. Shape’s RNA editing technologies can modify the RNA sequence, which makes the body’s protein building blocks.
TSC is a rare geneticdisease that affects approximately 1 in 6,000 people. The disease is caused by mutations on the TSC1 and TSC2 genes, which produce the proteins hamartin and tuberin, respectively.
Premature stop codons are point mutations that disrupt protein synthesis from messenger RNA. As a consequence, patients with premature stop codon diseases have reduced or eliminated protein production from the mutation bearing allele accounting for some of the most severe phenotypes in these geneticdiseases.
Hympavzi reduces the activity of TFPI, a naturally occurring anticoagulation protein. Hympavzi is the first anti-tissue factor pathway inhibitor (anti-TFPI) approved in the US for hemophilia A or B, and it’s also the first hemophilia therapy to be administered via a pre-filled auto-injector pen.
The new drug candidate for FSHD will combine an RNA molecule from miRecule targeting double homeobox 4 (DUX4) – a protein that is mutated in FSHD – with a nanobody developed by Sanofi that targets muscle cells. billion deal in 2018.
The company has also stated, at the same time as the study was announced, that it will look at developing mRNA technology in oncology and geneticdiseases. This not only allowed Pfizer to establish a COVID-19 vaccine but the company also recently announced that it had begun a study testing an mRNA flu vaccine.
To develop CRISPRoff, the researchers generated a single “dead” Cas9 fusion protein capable of mediating DNA methylation and repressive histone modifications, but devoid of any DNA cleavage function. Epigenetic Editing with CRISPR.
Sarepta’s gene therapy – like rivals from Pfizer and Solid Biosciences – codes for a shortened form of the dystrophin protein that is deficient in patients with the X-linked muscle-wasting disease, which occurs primarily in males.
CRISPR drugs can be used to modify the expression of disease-associated proteins in the body, for example, by correcting a mutation in a specific gene. There is another $1 billion in downstream payments on offer, assuming the drug candidates all make it through to regulatory approval and hit sales targets.
Through its Shielded Living Therapeutics platform, the company is developing functional cures for chronic diseases. The impact of CNS diseases extends beyond patients—to their families and society as well.” Looking to extend the human healthspan, BioAge raised $90 million in an oversubscribed Series C.
Protein Based Assays- These tests measure the presence and levels of specific proteins, which can serve as biomarkers for various diseases. These tests can aid in the diagnosis and treatment monitoring of various conditions by providing information about the underlying biological processes and disease states.
HAE is caused by a deficiency or dysfunction of the C1-inhibitor, a protein involved in regulating inflammation. HAE affects approximately one in 50,000 people globally, and there is currently no cure for the disease. These attacks can be unpredictable, often leading to life-threatening situations when they affect the throat or lungs.
The disease occurs due to a point mutation in the hemoglobin beta globin ( HBB ) gene that codes for one of the proteins that make up hemoglobin, the oxygen carrier in red blood cells. It also affects Hispanic Americans, but at a lower prevalence. The mutation causes red blood cells to develop a crescent or “sickle” shape.
Progeria, also called Hutchinson-Gilford Progeria Syndrome (HGPS), is an ultra-rare and fatal geneticdisease of accelerated aging in children. It is caused by a point mutation in the LMNA gene, which codes for the lamin A protein, resulting in the farnesylated aberrant protein, progerin.
At the time, the Sanger Institute was working on the Deciphering Developmental Disorders study (DDD), which looked at the approximately 1-2% of the genome that is responsible for making proteins in patients with rare diseases. Everything the project does has to be rubber-stamped by the patients,” he says.
Dietary changes, including restriction of salt and animal protein, are also recommended. Symptoms and Etiology: Characterized by progressive muscle weakness and atrophy, Duchenne muscular dystrophy (DMD) is an X-linked genetic condition that primarily affects males.
The MeCP2 protein plays a crucial role in regulating the activity of genes involved in brain development. What’s been shown in mouse models of Rett syndrome which also have the geneticdisease, is that trofinetide helps strengthen those connections between the neurons. Daybue, also called trofinetide, is a tripeptide.
Haemophilia A is a serious, inherited bleeding disorder in which a person’s blood doesn’t clot properly, as they either lack or do not have enough of a clotting protein called factor VIII. 11 People with haemophilia A either lack or do not have enough of a clotting protein called factor VIII.
Miplyffa primarily slows disease progression using a different mechanism of action, targeting heat shock protein responses to assist cells under stress.
RNA, and its protein-generating form messenger RNA (mRNA) discovered in 1961 , has quickly transitioned from being an obscure, finicky molecule that is difficult to work with, to becoming a significant cornerstone of therapeutic innovation in pharma and biotech. The RNA Revolution: From mRNA Vaccines to RNA Editing. The deal is worth $1.5
AavantiBio’s strategic partnership with University of Florida’s Powell Gene Therapy Center provide their foundational research in rare genetic disorders. The company’s lead program is aimed at Friedrich’s Ataxia, a rare inherited geneticdisease that causes cardiac and central nervous system dysfunction. Be Biopharma .
CF is a rare, life-shortening geneticdisease that affects the lungs, liver, GI tract, sinuses, sweat glands, pancreas and reproductive tract. It is caused by a defective and/or missing CFTR protein caused by mutations in the CFTR gene. The most common mutation is having at least one F508del.
At the time, the Sanger Institute was working on the Deciphering Developmental Disorders study (DDD), which looked at the approximately 1-2% of the genome that is responsible for making proteins in patients with rare diseases. Everything the project does has to be rubber-stamped by the patients,” he says.
To develop CRISPRoff, the researchers generated a single “dead” Cas9 fusion protein capable of mediating DNA methylation and repressive histone modifications, but devoid of any DNA cleavage function. Epigenome Editing with CRISPR.
The US Food and Drug Administration (FDA) has approved Takeda Pharmaceuticals’ Adzynma, the first recombinant protein product for prophylactic (preventive) or on‑demand enzyme replacement therapy (ERT) in adult and pediatric patients with congenital thrombotic thrombocytopenic purpura (cTTP), an ultra-rare blood clotting disorder.
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