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Forge Biologics has joined the public-private collaboration, the Bespoke Gene Therapy Consortium (BGTC), to expedite the development and manufacture of new AAV [adeno-associated virus] gene therapies to treat patients with rare diseases. Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.
The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for GeneticDisease (iCGD) to advance lifesciences.
CF is a progressive geneticdisease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. The CFTR gene itself is complex, with over 2,000 known mutations. Without functional CFTR, thick mucus builds up in organs like the lungs, leading to chronic infections and lung damage.
If the past year is anything to go by, then 2022 will also be a year marked by continued innovations in the lifesciences. The development and widespread adoption of new technologies is key to revolutionizing the way we diagnose, prevent, treat and manage disease. The RNA Revolution: From mRNA Vaccines to RNA Editing.
The Foundation for the National Institutes of Health (FNIH) announced this week that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio.
Krystal Biotech’s Vyjuvek has been awarded US Food and Drug Administration (FDA) approval to make it the first topical gene therapy for the treatment of wounds in patients with the rare, often debilitating skin disease dystrophic epidermolysis bullosa (DEB). As a topical treatment, it is also the first readily redosable gene therapy.
The US Food and Drug Administration (FDA) has approved the first gene therapies for the treatment of sickle cell disease, approving two on the same day. Both gene therapies are approved for individuals 12 years of age and older with sickle cell disease. It also affects Hispanic Americans, but at a lower prevalence.
In this episode, Ayesha spoke with Lawreen Asuncion, a patient advocate who works to raise awareness for the rare disease Usher syndrome. Lawreen is a seasoned biotech and lifescience professional with over 25 years of experience. Subscribe to the Xtalks LifeScience Podcast to never miss a new episode.
Solid Biosciences president and CEO Bo Cumbo said: “This collaboration with Phlox Therapeutics is an exciting opportunity to work with a company that shares our commitment and innovative approach to bringing transformative therapies to patients with rare geneticdiseases. By Cytiva Thematic.
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.”.
Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare geneticdiseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with geneticdiseases.
Now a common gene editing tool, the popularity of the CRISPR-Cas9 system has increased over the past decade. CRISPR is notable for engineering living cells, allowing scientists to edit, turn off, delete, or replace genes in a cell’s genome. Marson’s group initially collaborated with CRISPR pioneer Jennifer Doudna, PhD, in 2015.
CTX is a rare, progressive genetic disorder caused by mutations in the CYP27A1 gene, which disrupts the livers ability to produce chenodeoxycholic acid, a bile acid. Preclinical studies in a CTX mouse model demonstrated that VTX806 normalizes toxic bile acid metabolite levels in the blood, liver, tendons and brain.
A tiny child with a devastating geneticdisease who wasn’t supposed to blow out the candles on his first birthday cake. Not only did this baby survive to do all these things, but he became a poster child for gene therapy with the regulators at the U.S. “They called him ‘The Boy.’ Who wasn’t supposed to sit up.
Verily, Google’s life-science-focused sibling company and Janssen will also seek to tap into the data generated by people during their everyday lives to seek for any previous health-related signals in the two years leading up to the point they consented to participate in the study as well as in the two years after.
ZFNs are also used to create a new generation of geneticdisease models called isogenic human disease models. It is a chimeric endonuclease, which consists of a custom-designed ZF DNA-binding domain and the non-specific nuclease domain from the FokI restriction enzyme. They are the smallest type of programmable nuclease.
A 2015 study published in Nature Genetics found that the availability of human genetic data made investigational drugs twice as likely to pass pivotal trials and eventually be approved. Figure 1: The use of Mendelian randomization to validate genetic drug targets.
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.
The FDA recently approved two gene therapies for SCD: Vertex and CRISPR Therapeutics’ Casgevy and bluebird bio’s Lyfgenia. The company is still investigating the new clinical findings, but it advises patients to contact their physicians to discuss alternative treatment options, Habtezion said.
Inherited mutations in the SLC3A1 and SLC7A9 genes cause cystine to be abnormally transported within the kidney leading to cystinuria. Symptoms and Etiology: Characterized by progressive muscle weakness and atrophy, Duchenne muscular dystrophy (DMD) is an X-linked genetic condition that primarily affects males. galactosidase A (?-Gal
Pompe disease, also referred to as acid-maltase disease and glycogen storage disease II, is an uncommon genetic disorder characterized by the gradual weakening of both cardiac and skeletal muscles. The body relies on this enzyme to break down glycogen, a stored form of sugar utilized for energy production.
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.
ASMD is a rare genetic lysosomal storage disease caused by mutations in the sphingomyelin phophodiesterase-1 ( SMPD1 ) gene that codes for the acid sphingomyelinase (ASM) enzyme. ASM is required for breaking down a complex lipid called sphingomyelin.
GPP occurs in individuals with specific gene variations as it is a geneticdisease , and variations in the genes IL36RN and AP1S3 are known to cause it. The role of the IL-36 receptor was confirmed in loss-of-function mutation studies in the IL-36 receptor antagonist gene.
cTTP is a very rare, inherited and life-threatening blood clotting disorder caused by a disease-causing mutation in the ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13) gene, which encodes the ADAMTS13 enzyme that regulates blood clotting by cleaving the von Willebrand factor (VWF) protease.
Rett syndrome is caused by mutations in the MECP2 gene found on the X chromosome and leads to problems in brain function that cause behavioural problems, a rapid decline in the ability to speak and carry out manual tasks, as well as seizures, curvature of the spine and sleep disturbances.
Developing medicines – for people living with disease Dr Mullen’s current role involves providing medical monitoring support, as well as safety, pharmacovigilance, scientific, and medical advice across a range of client projects, including advanced therapies and orphan drugs. I still feel that it is very important,” Dr Mullen said. “We’ve
TSC is a rare geneticdisease that affects approximately 1 in 6,000 people. The disease usually presents within the first year of life, displaying subtle signs that can take years to develop. Due to this, the disease can be misdiagnosed or not even recognized for a while.
BridgeBio is dedicated to developing therapies for geneticdiseases with unmet needs. The FDA remains committed to facilitating the development and approval of safe and effective therapies for patients affected by rare diseases — an area of critical need.”. The approval was granted to BridgeBio Pharma, Inc.
Axovant – Kristin Vuori was named to the board of directors at Axovant Gene Therapies Ltd. Sabbagh will be responsible for expanding Inozyme’s proprietary pipeline by identifying and developing new therapeutics for monogenic and non-geneticdiseases of abnormal mineralization. Additionally, Parag V.
NPC, caused by mutations in the NPC1 or NPC2 gene, typically shortens life expectancy to around 13 years. Aqneursa is the only approved standalone therapy for NPC, specifically targeting its neurological manifestations, reflecting its unique role in addressing the debilitating effects of this disease.
CDKL5 deficiency disorder (CDD) is a rare genetic condition caused by mutations in the CDKL5 gene, which is essential for brain development and function. This disorder leads to severe neurodevelopmental impairment and early-onset, difficult-to-control seizures.
The lifesciences and healthcare are among the biggest industries globally, and their significance was particularly highlighted during the past couple of years by the COVID-19 pandemic. Given the hyperfocus on the lifesciences thanks to COVID, consumers appear to be more autonomous and vocal about their medical demands and choices.
The UK’s National Health Service (NHS) has recommended the use of Libmeldy for the treatment of the rare geneticdisease metachromatic leukodystrophy (MLD). Related: Gene Silencing Porphyria Treatment, Givlaari, Finally Wins Over England’s NICE Amid Stellar Long-Term Data. The cells are then injected back into the patient.
Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare geneticdiseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday. How Can Study Protocols Be More Effective?
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. The company boasts an expansive portfolio of assets that grant rights to future potential royalty and milestone payments.
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).
Based in Seattle, Washington, Sana focuses on in vivo and ex vivo cell engineering platforms to develop therapies for cancer, diabetes, cardiovascular disease, CNS disorders, and geneticdiseases.
The US Food and Drug Administration (FDA) has awarded approval to Orchard Therapeutics for its gene therapy Lenmeldy (atidarsagene autotemcel) for the treatment of children with pre-symptomatic late infantile, pre-symptomatic early juvenile or early symptomatic early juvenile metachromatic leukodystrophy (MLD).
RNA-based therapies hold the potential to offer new treatment options for diseases with limited or inadequate therapeutic alternatives. Gene Editing CRISPR-Cas9 and related gene-editing technologies continue to advance, and today they are widely used to study and develop therapeutic approaches for a broad range of human diseases.
FCS is a rare, genetic lipid disorder, typically caused by specific single-gene mutations, that affects the body’s ability to break down fats, or triglycerides, in the blood. FCS causes extremely elevated triglyceride levels, often exceeding 880 mg/dL.
Regenerons CHORD study evaluating investigational gene therapy DB-OTO for otoferlin-related hearing loss a rare condition caused by variants in the OTOF gene has revealed that 10 of 11 children with at least one post-treatment hearing assessment experienced notable improvements, including dramatic gains in speech perception.
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