Scienmag

DECEMBER 30, 2021

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.

Genetic Disease 85

Genetic Disease Protein Genetics Gene 85

pharmaphorum

OCTOBER 4, 2020

Bluebird bio could be just a few months away from approval of its gene therapy for rare disease cerebral adrenoleukodystrophy (CALD) in the EU, after the EMA started an accelerated review. CALD is caused by mutations in the ABCD1 gene located on the X chromosome, which provides instructions for the production of the ALD protein.

Gene Therapy 96

Gene Therapy Gene Genetic Disease Protein 96

pharmaphorum

SEPTEMBER 6, 2021

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU) on hold while it investigates a safety signal.

Gene Therapy 82

Gene Therapy Gene Genetic Disease DNA 82

Drug Discovery World

DECEMBER 19, 2023

Developer Immusoft has received FDA Orphan Drug Designation and Rare Pediatric Disease Designation for the therapy, designated ISP-001, in this indication. MPS I is a rare, genetic disease that affects the body’s ability to produce the enzyme alpha-L-iduronidase (IDUA).

Engineer 113

Engineer Trials Genetic Disease Gene Therapy 113

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.

Protein 42

Protein Genetic Disease Genetics Scientist 42

pharmaphorum

AUGUST 1, 2022

Sarepta is pressing forward with a bold plan to file with the FDA for accelerated approval of its gene therapy SRP-9001 for Duchenne muscular dystrophy (DMD) in the next few months, with a view to making it available in sometime around the middle of 2023. The post Sarepta says early filing for DMD gene therapy is back on appeared first on.

Gene Therapy 105

Gene Therapy Gene Trials Genetics 105

pharmaphorum

JULY 20, 2022

Armed with a $100 million second-round financing, CAMP4 Therapeutics is preparing to start the first clinical trial of a drug targeting regulatory RNA (regRNA) molecules that can be used to fine-tune the expression of genes. ” The post CAMP4 raises $100m to take lead RNA drugs into clinic appeared first on. .

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RNA Genetic Disease Drugs Protein 52

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

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. . Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.

RNA 147

RNA Vaccination Vaccine In-Vivo 147

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.

Research 59

Research Gene Therapy RNA Gene 59

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

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

pharmaphorum

JANUARY 10, 2022

Bayer has bolstered its cell and gene therapy platform by securing access to a CRISPR-based gene-editing platform developed by US biotech Mammoth Biosciences. 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.

In-Vivo 52

In-Vivo Gene Editing Gene Therapy Gene 52

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).

Genetics 52

Genetics Protein Genetic Disease Clinical Trials 52

Delveinsight

AUGUST 26, 2021

Shape Therapeutics inks gene therapy deal with Roche worth up to USD 3 Billion. 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. was swooped up by Real Chemistry in January.

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Vaccination Vaccine Gene Therapy RNA 98

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 96

Genetic Disease Protein RNA Doctors 96

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 spins off to two companies, cleaving off its gene therapy, and cancer units. Further, Birinapant also complements the anti-tumor activity of the immune system.

Licensing 52

Licensing Licensing Antibody Gene Therapy 52

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).

FDA Approval 52

FDA Approval Gene Clinical Trials Clinical Trials 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

AUGUST 6, 2020

TSC is a rare genetic disease that affects approximately 1 in 6,000 people. Due to this, the disease can be misdiagnosed or not even recognized for a while. 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

The Pharma Data

OCTOBER 27, 2020

The Massachusetts-based biotech is investing in their proprietary “Gene Traffic Control” system, which tells the cells when to express which genes where and in what order within the chromatin regulatory system. AavantiBio has a unique opportunity to change the lives of those living with FA and other rare diseases,” Cumbo said.

Gene 52

Gene Gene Therapy Medicine Genetics 52

XTalks

SEPTEMBER 17, 2020

Inherited mutations in the SLC3A1 and SLC7A9 genes cause cystine to be abnormally transported within the kidney leading to cystinuria. Dietary changes, including restriction of salt and animal protein, are also recommended. Individuals with this disease are deficient in ?-galactosidase Mutations in the gene encoding ?-Gal

Trials 98

Trials Gene Hormones Clinical Trials 98

XTalks

MAY 12, 2023

Caused by mutations in the MECP2 gene located on the X chromosome, Rett syndrome is primarily an X-linked disorder; however, there have been rare cases of boys being affected, usually with more severe symptoms due to the absence of a second X chromosome. 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

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.

Trials 52

Trials Protein Gene Genetic Disease 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

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

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. We know that neurodevelopmental disorders specifically have a very high frequency of such mutations. “If

Genome 87

Genome Genomics Genetics Genome Project 87

pharmaphorum

SEPTEMBER 9, 2020

Charlie has spent more than 26 years working on the human genome – 22 of which were spent at the Wellcome Sanger Institute, helping to assemble the human genome and trying to understand the function of the genes contained within it. We know that neurodevelopmental disorders specifically have a very high frequency of such mutations. “If

Genome 74

Genome Genomics Genetics Genome Project 74

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

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells through epigenetic editing without altering the genetic sequence itself. It’s a great tool for controlling gene expression.”.

DNA 98

DNA Gene Gene Silencing Genome 98

Drug Discovery World

FEBRUARY 28, 2023

Interestingly, at least 80% of all rare diseases originate from monogenic mutations, meaning that they arise from mutations in a single gene 4. 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.

Genetics 52

Genetics Genetic Analysis Vaccination Vaccine 52

The Pharma Data

JULY 6, 2021

Data will include the final analysis from the phase IIIb STASEY study of Hemlibra® (emicizumab) and updated data from the phase I/II study of SPK-8011, an AAV-based gene therapy in development by Spark Therapeutics (a member of the Roche Group). Roche’s Chief Medical Officer and Head of Global Product Development.

Gene Therapy 52

Gene Therapy Gene Clinical Trials Clinical Trials 52

Drug Discovery World

MARCH 6, 2024

Guiding neurological drug discovery and development to success The 20 years since the Human Genome Project has seen transformational advances in the molecular understanding of cancers and rare genetic diseases, leading to genetically informed, personalised selection of therapies and massively improved outcomes for many patients.

Genome 64

Genome Genomics Clinical Trials Clinical Trials 64

XTalks

DECEMBER 13, 2023

The year 2022 has proven to be a momentous period for Fulgent Genetics, marked by significant expansion of its product portfolio across various medical conditions. is a late-stage oncology company dedicated to developing targeted therapeutics for the treatment of metastatic disease. million and $38.8 million and $33.9

Genetics 111

Genetics Vaccination Vaccine DNA 111

XTalks

MAY 4, 2021

Researchers at the University of California San Francisco (UCSF) and the Whitehead Institute have developed a novel CRISPR-based tool called “CRISPRoff” that can switch off genes in human cells without editing the genetic sequence itself. These modifications regulate gene expression without altering the sequence or structure of DNA.

DNA 52

DNA Gene Gene Silencing Genome 52

The Pharma Data

DECEMBER 3, 2020

Targeted Augmentation of Nuclear Gene Output (TANGO) of SCN1A Reduces Seizures and Rescues Parvalbumin Positive Interneuron Firing Frequency in a Mouse Model of Dravet Syndrome. December 5, 2:00 PM – 3:30 PM; Platform A: Translational Research / Genetics. –( BUSINESS WIRE )– Stoke Therapeutics , Inc. of all patients.

Medicine 52

Medicine Genetics Clinical Trials Clinical Trials 52

The Pharma Data

AUGUST 3, 2021

SVP, Chief Medical Officer, Novartis Gene Therapies. “We Additionally, STEER will add to the clinical data and emerging real-world evidence for the use of gene therapy to treat SMA. This route of administration has the potential to open up access for older patients to all the benefits of gene therapy.

Clinical Trials 52

Clinical Trials Clinical Trials Gene Therapy Trials 52