Scienmag

SEPTEMBER 23, 2020

Progress in overcoming spinocerebellar ataxia, an intractable genetic disease 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 (..)

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Protein Genetic Disease Genetics Development 52

Scienmag

OCTOBER 14, 2020

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

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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

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.

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Genetic Disease Protein RNA Doctor 104

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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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

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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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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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 Dermatology FDA Approval 97

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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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

The Pharma Data

OCTOBER 14, 2020

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 genetic diseases.

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Protein RNA Production Genetics 52

XTalks

OCTOBER 16, 2024

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.

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FDA Approval Trials Clinical Trials Clinical Trials 105

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

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

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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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

Roots Analysis

AUGUST 12, 2024

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.

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XTalks

SEPTEMBER 16, 2024

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.

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Protein Genetics Trials Allergies 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.

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Trials Gene Hormones Clinical Trials 98

XTalks

JANUARY 3, 2025

Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism. People with FCS often have triglyceride levels higher than 880 mg/dL, compared to a healthy target level of below 150 mg/dL. FCS also severely impacts quality of life, causing chronic fatigue and recurrent stomach pain.

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FDA Approval Drugs Clinical Trials Clinical Trials 59

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

JULY 6, 2021

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.

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Gene Therapy Gene Clinical Trials Clinical Trials 52

XTalks

SEPTEMBER 25, 2024

Miplyffa primarily slows disease progression using a different mechanism of action, targeting heat shock protein responses to assist cells under stress.

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FDA Approval Drugs Protein Gene 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 Development 52

XTalks

OCTOBER 8, 2024

Apitegromab is a monoclonal antibody that selectively binds to and inhibits myostatin, a protein that limits muscle growth. Current therapies mainly address motor neuron loss, leaving a need for treatments that directly target muscle weakness.

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Trials Antibody Genetics Medicine 52

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.

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DNA Scientist Genetic Disease Research 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.

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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).

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FDA Approval Life Science Containment Genetics 52

XTalks

NOVEMBER 26, 2024

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 genetic diseases space.

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Genetic Disease Genetics Protein Clinical Development 105

The Pharma Data

OCTOBER 28, 2020

The interim analysis did not include data from other exploratory outcome measures such as seizure frequency, sleep diaries, EEG patterns, UBE3A protein levels in the CSF, ambulation by wearable device, and adaptive behaviors. This condition is typically not inherited but instead occurs spontaneously. About Ultragenyx.

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The Pharma Data

JANUARY 9, 2021

The most common adverse events associated with valoctocogene roxaparvovec occurred early and included transient infusion-associated reactions and transient, asymptomatic, and mild to moderate rise in the levels of certain proteins and enzymes measured in liver function tests with no long-lasting clinical sequelae. GENEr8-1 Study Description.

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Gene Therapy Gene Trials Clinical Trials 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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XTalks

APRIL 1, 2025

Through RNA silencing, it targets the expression of antithrombin, a protein that inhibits blood clotting. Moreover, Qfitlia, an siRNA therapy that blocks target protein expression at the RNA level, requires dosing only once every other month, compared to Alhemos daily and Hympavzis weekly dosing.

FDA Approval 59

FDA Approval RNA Clinical Trials Clinical Trials 59

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

Pharma Mirror

APRIL 21, 2024

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.

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In-Vitro Drugs Genetic Disease RNA 130

The Pharma Data

DECEMBER 3, 2020

Stoke believes that STK-001, a proprietary antisense oligonucleotide (ASO), has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome. protein expression by leveraging the non-mutant (wild-type) copy of the SCN1A gene to restore physiological Na V 1.1

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