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

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

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 (..)

Protein 52

Protein Genetic Disease Genetics Development 52

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 Doctor 104

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.

RNA 52

RNA Genetic Disease Drugs Protein 52

XTalks

MAY 26, 2023

Vyjuvek is also the first drug approved to treat the disease and is Krystal’s first approved product. DEB is a genetic disorder characterized by very fragile skin that rips and blisters easily even from minor friction (like rubbing or scratching) or injury, resulting in open wounds that are prone to skin infections and fibrosis.

Gene Therapy 97

Gene Therapy Gene Dermatology FDA Approval 97

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

OCTOBER 5, 2022

Sanofi has added to its rare disease pipeline by licensing an antibody-RNA conjugate (ARC) for facioscapulohumeral muscular dystrophy (FSHD), a genetic muscle disorder, from US biotech miRecule. billion deal in 2018.

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RNA Genetics Dermatology Antibody 105

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.

Gene Therapy 94

Gene Therapy Gene Genetic Disease DNA 94

XTalks

OCTOBER 16, 2024

Hympavzi reduces the activity of TFPI, a naturally occurring anticoagulation protein. This is Pfizer’s second FDA-approved treatment for a rare genetic blood disorder this year. This action increases the amount of thrombin, a critical enzyme in blood clotting, helping to prevent bleeding episodes.

FDA Approval 105

FDA Approval Trials Clinical Trials Clinical Trials 105

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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Vaccine Vaccination Gene Therapy RNA 98

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.

Protein 52

Protein RNA Production Genetics 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.

Gene Therapy 105

Gene Therapy Gene Genetics Trials 105

XTalks

MAY 12, 2023

Rett syndrome is a rare genetic disorder that predominantly affects girls and leads to severe physical and cognitive impairments. The MeCP2 protein plays a crucial role in regulating the activity of genes involved in brain development. Dr. Bishop: Rett syndrome is a genetic disorder caused by a mutation in the MECP2 gene.

FDA Approval 97

FDA Approval Genetics Trials Drugs 97

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.

FDA Approval 64

FDA Approval Protein Containment Genetic Disease 64

Roots Analysis

AUGUST 12, 2024

These diagnostic solutions are essential for detecting and monitoring diseases, identifying genetic abnormalities, and guiding personalized treatment plans. Molecular diagnostic solutions are pivotal across various medical fields, including oncological disorders, infectious diseases, genetic testing, and personalized medicine.

Genetics 40

Genetics Gene Expression RNA DNA 40

XTalks

JANUARY 3, 2025

FCS is a rare genetic disorder that prevents the body from properly breaking down triglycerides (a type of fat in the blood), leading to dangerously high levels. Tryngolza works by targeting a protein in the liver, apoC-III, which regulates triglyceride metabolism.

FDA Approval 59

FDA Approval Drugs Clinical Trials Clinical Trials 59

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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In-Vivo Gene Editing Gene Therapy Gene 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. Lipodystrophy. Prevalence: 1 in 10 million.

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Trials Gene Hormones Clinical Trials 98

XTalks

SEPTEMBER 16, 2024

HAE is a rare genetic condition that causes episodes of severe swelling in various parts of the body, including the face, hands, feet and airway. HAE is caused by a deficiency or dysfunction of the C1-inhibitor, a protein involved in regulating inflammation.

Protein 52

Protein Genetics Trials Allergies 52

XTalks

OCTOBER 8, 2024

SMA is a genetic neuromuscular disease causing progressive muscle weakness and loss of motor function. Apitegromab is a monoclonal antibody that selectively binds to and inhibits myostatin, a protein that limits muscle growth.

Trials 52

Trials Antibody Genetics Medicine 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 .

Gene 52

Gene Gene Therapy Medicine Development 52

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.

Gene Therapy 52

Gene Therapy Gene Clinical Trials Clinical Trials 52

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.

RNA 52

RNA Antibody Life Science Protein 52

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 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

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.

FDA Approval 52

FDA Approval Drugs Protein Gene 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.

Genetic Disease 105

Genetic Disease Genetics Protein Clinical Development 105

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

Camargo

JULY 27, 2021

The technology of gene therapy is possible due to extensive DNA research and our resulting understanding of many diseases on the genetic level, and it encompasses several mechanisms such as introducing new genes (gene addition) and inactivating or replacing mutated genes (gene editing). Formulation Considerations.

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Gene Therapy Gene Gene Editing Genetics 238

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.

Gene Therapy 52

Gene Therapy Gene Trials Clinical Trials 52

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.

Protein 40

Protein Production Development Drugs 40

XTalks

APRIL 1, 2025

Hemophilia A and B are rare genetic bleeding disorders caused by a deficiency or dysfunction of clotting factors VIII (FVIII) and IX (FIX), respectively. Through RNA silencing, it targets the expression of antithrombin, a protein that inhibits blood clotting. The frequent intravenous infusions can be challenging for patients.

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.

Gene Therapy 98

Gene Therapy Gene Genetic Disease Protein 98

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genomics 102

Genomics Genome Genetics Genome Project 102

The Pharma Data

DECEMBER 3, 2020

Dravet syndrome is a severe and progressive genetic epilepsy characterized by frequent, prolonged and refractory seizures that usually begin within the first year of life. The disease is classified as a developmental and epileptic encephalopathy due to the developmental delays and cognitive impairment associated with the disease.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52