Scienmag

OCTOBER 14, 2020

Known as myofibrillar myopathies, these rare genetic diseases lead to progressive muscle wasting, affecting muscle function and causing weakness.

Genetic Disease 67

Genetic Disease Genetics Protein Research 67

STAT News

SEPTEMBER 16, 2022

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.

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Gene Editing Genetic Disease Genetics Protein 94

pharmaphorum

JULY 20, 2022

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.

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RNA Genetic Disease Drugs Protein 52

Pharmaceutical Technology

AUGUST 17, 2022

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.

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RNA Vaccination Vaccine In-Vivo 147

Drug Discovery World

AUGUST 23, 2022

BV-101 is an adeno-associated virus (AAV) gene therapy vector that simultaneously addresses the metabolic dysfunction of diseased neurons as well as contributes to the clearance of the mutant huntingtin protein. A rare inherited neurodegenerative disease, it’s thought to affect 62,000 people in the European Union.

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Gene Therapy Gene Trials Clinical Trials 98

BioTech 365

NOVEMBER 18, 2020

Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today … Continue reading → Stoke Therapeutics Announces Proposed Public Offering Stoke Therapeutics Announces Proposed Public Offering BEDFORD, Mass.–(BUSINESS

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Genetic Disease Genetics Protein 52

Drug Discovery World

JANUARY 11, 2024

The team, led by University College London (UCL), King’s College London and Moderna scientists, found that mRNA could be used to correct a rare genetic liver disease known as argininosuccinic aciduria in a mouse model. mRNA contains instructions that direct the cells to make proteins.

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Research Gene Therapy RNA Gene 59

Drug Discovery World

AUGUST 28, 2023

It is the method for removing unwanted debris, e.g., old proteins, and breaking them down so their constituent parts can be used again. The ones we have focussed on, because the data is so promising and the opportunity so big, are neurodegenerative disorders, in particular Parkinson’s disease and Amyotrophic Lateral Sclerosis (ALS).

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Protein Genetics Genetic Disease Clinical Trials 52

pharmaphorum

OCTOBER 4, 2020

CALD is caused by mutations in the ABCD1 gene located on the X chromosome, which provides instructions for the production of the ALD protein. ALD protein is needed to clear toxic molecules called very long-chain fatty acids (VLCFAs) in the brain, and if mutated causes the VLCFAs to accumulate and damage the myelin sheath.

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Gene Therapy Gene Genetic Disease Protein 98

Pharmaceutical Technology

MARCH 1, 2023

“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 genetic diseases.

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Development Gene Therapy Genetics Genetic Disease 130

pharmaphorum

MAY 6, 2021

Thalassaemia is a severe genetic disease 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.

Genetic Disease 104

Genetic Disease Protein RNA Doctors 104

Drug Discovery World

FEBRUARY 28, 2024

Each of the three vaccines in Tri-Ad5 targets different proteins associated with precancer and cancer cells. The vaccine combination is studying whether activation of dendritic cells and training the immune system to recognise those proteins will destroy the precancer cells before the cancer occurs.

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Vaccination Vaccine Trials Protein 52

Camargo

JULY 27, 2021

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 genetic diseases, immune system disorders, oncology treatments, neurogenerative diseases, infectious diseases, and more.

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Gene Therapy Gene Gene Editing Genetics 238

XTalks

MAY 26, 2023

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.

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Gene Therapy Gene FDA Approval Dermatology 97

Delveinsight

JANUARY 12, 2021

Birinapant is a clinical-stage SMAC mimetic that degrades Inhibitors of Apoptosis Proteins (IAPs) by binding to them, ultimately leading to cell death in tumor cells. Bluebird bio recently announced its plans to split its genetic disease and oncology businesses. and Europe.

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Licensing Licensing Antibody Gene Therapy 52

pharmaphorum

SEPTEMBER 6, 2021

PKU is a rare genetic disease 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.

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Gene Therapy Gene Genetic Disease DNA 94

XTalks

AUGUST 6, 2020

TSC is a rare genetic disease 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.

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FDA Approval Protein Containment Genetic Disease 64

pharmaphorum

JANUARY 10, 2022

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.

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Delveinsight

AUGUST 26, 2021

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.

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Vaccination Vaccine Gene Therapy RNA 98

Drug Discovery World

NOVEMBER 14, 2023

Takeda’s Adzynma has become the first recombinant protein product approved in the US for prophylactic or on-demand enzyme replacement therapy (ERT) for congenital thrombotic thrombocytopenic purpura (cTTP).

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FDA Approval Gene Clinical Trials Clinical Trials 52

The Pharma Data

MARCH 16, 2021

Additionally, this study evaluated response rates in other common VHL disease-associated tumors, including pancreatic cysts, pancreatic neuroendocrine tumors, central nervous system (CNS) hemangioblastomas, and retinal hemangioblastomas. Proteins known as hypoxia-inducible factors, including HIF-2?, About Belzutifan.

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Drugs Trials Genetics Protein 52

pharmaphorum

OCTOBER 5, 2022

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.

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RNA Genetics Dermatology Antibody 105

The Pharma Data

DECEMBER 8, 2020

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.

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RNA Antibody Life Science Protein 52

XTalks

DECEMBER 13, 2023

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.

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Gene Therapy FDA Approval Gene In-Vivo 98

The Pharma Data

NOVEMBER 8, 2020

Progeria, also called Hutchinson-Gilford Progeria Syndrome (HGPS), is an ultra-rare and fatal genetic disease 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.

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Trials Protein Gene Genetic Disease 52

pharmaphorum

AUGUST 1, 2022

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.

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Gene Therapy Gene Genetics Trials 105

Drug Discovery World

MAY 11, 2023

However, she also presented thoughts in a technical update, Targeted Protein Degradation – Progress, Direction and Prospects. Ubiquigent’s Sheelagh Frame, said: “It was wonderful to share experiences and thoughts about building better workplaces alongside some other inspiring women in life science.”

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Life Science Genetics Vaccination Vaccine 52

XTalks

NOVEMBER 10, 2023

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.

FDA Approval 59

FDA Approval Gene Therapy Gene Clinical Trials 59

XTalks

FEBRUARY 27, 2023

Alpha-mannosidosis is an extremely rare genetic metabolic disease affecting approximately one in 500,000 people. The lysosomal storage disorder is caused by mutations in the MAN2B1 gene, which codes for lysosomal alpha-mannosidase, an enzyme that degrades glycoproteins (proteins attached to sugar residues).

FDA Approval 52

FDA Approval Life Science Containment Genetics 52

The Pharma Data

OCTOBER 27, 2020

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 genetic disease that causes cardiac and central nervous system dysfunction. Be Biopharma .

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Gene Gene Therapy Medicine Genetics 52

XTalks

MAY 12, 2023

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 genetic disease, is that trofinetide helps strengthen those connections between the neurons. Daybue, also called trofinetide, is a tripeptide.

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FDA Approval Genetics Trials Drugs 97

The Pharma Data

OCTOBER 18, 2020

Telomeres degrade and shorten with age and can become excessively damaged in certain genetic diseases, as well as from lifestyle factors such as smoking, poor diet, and chronic stress. Shortening of telomeres is associated with the symptoms of aging, heart disease, DNA damage and uncontrolled cell replication, which can lead to cancer.

DNA 52

DNA Scientist Genetic Disease Research 52

The Pharma Data

DECEMBER 20, 2020

CF is a rare, life-shortening genetic disease 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.

In-Vitro 52

In-Vitro FDA Approval Manufacturing Drugs 52

XTalks

SEPTEMBER 17, 2020

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.

Trials 98

Trials Gene Hormones Clinical Trials 98

pharmaphorum

SEPTEMBER 9, 2020

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.

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Genome Genomics Genetics Genome Project 102

pharmaphorum

SEPTEMBER 9, 2020

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.

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Genome Genomics Genetics Genome Project 80

Drug Discovery World

FEBRUARY 28, 2023

mRNA enables the delivery of a transiently expressed genetic molecule that is translated into a target protein using the machinery of the host cell. Therefore, the risk for off-target insertional mutagenesis is greatly reduced. In addition, it may be easier to target the therapeutic molecule to the correct cell or tissue.

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Genetics Genetic Analysis Vaccination Vaccine 52