Scienmag

FEBRUARY 3, 2021

Scientists illuminate the protein’s role in rare genetic diseases 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.

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Protein Genetic Disease Genetics Scientist 42

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

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

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

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 Doctors 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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Development Gene Therapy Genetics Genetic Disease 130

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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Genetic Disease Genetics Protein 40

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

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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Vaccination Vaccine Gene Therapy RNA 98

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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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

JANUARY 10, 2022

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 genetic diseases. 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.

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XTalks

MAY 4, 2021

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.

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DNA Gene Gene Silencing Genome 98

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

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 Gene FDA Approval 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

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

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

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

XTalks

DECEMBER 22, 2021

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

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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

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.

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In-Vitro FDA Approval Drugs Manufacturing 52

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

XTalks

MAY 4, 2021

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.

DNA 52

DNA Gene Gene Silencing Genome 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