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The US Food and Drug Administration (FDA) has granted approval for bluebird bio ’s Zynteglo (betibeglogene autotemcel, beti-cel) for the treatment of the underlying genetic cause of beta?thalassemia A custom-made, one-dose gene therapy, Zynteglo is indicated for such patients who need red blood cells (RBCs) transfusions on a regular basis.
Genetic testing provides patients with a diagnosis for their illness, helps patients and family members to understand risks of developing new diseases, and can be used to support clinical trial advancement. What are the benefits and limitations to using genetic testing? It is important to consider the type of testing performed (e.g.,
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. The study was published in the American Journal of Human Genetics. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings.
Ben Hargreaves finds that the vast amount of genetic data that exists today could help provide a faster, more targeted way of developing new drug candidates. The logical extension to this kind of approach is treating individual patients, with their individual genetic makeup.
Historically, these indications have challenged the one-size-fits-all treatment approach due to patient variability, such as genetic differences in drug metabolism and underlying health conditions. This resistance may occur due to genetic mutations, epigenetic changes, or a tumor’s microenvironment.
A trio of bioengineering scientists at Ecole Polytechnique Fédérale de Lausanne has found age and gender differences in gene expression related to the circadian clock. For their paper published in the journal Science, Lorenzo Talamanca, Cédric Gobet and Felix Naef analyzed data obtained for the Genotype-Tissue Expression project.
Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Eagleton recently spoke on a webinar with his colleagues from Medpace about lessons learned from successful approaches from rare disease and gene therapy product approvals.
There, plasma is separated, and tumor DNA is identified by detecting genetic mutations, methylation patterns and fragmentation signals. Using cervical or self-collected vaginal specimens, the test works with the BD Viper LT and BD COR systems to detect individual genotypes, such as HPV 16, 18 and 31, and grouped results for other types.
Expeditious and accurate diagnoses are necessary for patients to access healthcare services and treatment options for rare genetic diseases. Increasing the efficiency of case analysis and interpretation is essential to providing timely care for patients with genetic diseases.
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.
The test is based on the detection of actionable genes – genes with known driver mutations that can be targeted by an approved therapy (or investigational therapies in clinical trials). The panel of genes in the test only include known NSCLC-associated genes, making the test specific to the disease. Personalized Approach.
The rare, X-linked genetic condition is characterised by short stature and facial, limb and genital abnormalities and was first described in 1970. Because Aarskog is an X-linked genetic condition affecting predominantly males, women have traditionally been considered asymptomatic carriers. No one would listen.”.
In patients with T790M mutant NSCLC receiving osimertinib, 63% experienced loss of T790M at progression, commonly linked to histological transdifferentiation, KRAS mutations, or gene fusions. In the same study, those with T790M loss had a shorter treatment duration (6.1 months vs. 15.2 months, p = 0.01).
Pharmacogenomics, the understanding of how genes impact an individual’s response to medications, provides a potential outlet to better optimised therapies. The participants undergo monitoring for genetic variations that could potentially negatively impact their reaction to therapies. About the Author.
The study by a team at the Universities of East Anglia and Edinburgh shows that HRT use is associated with better memory, cognition, and larger brain volumes in later life among women carrying the APOE4 gene, a well-established risk factor for Alzheimer’s.
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.
ONWARD is investigating Adial’s lead drug candidate, AD04, as a therapeutic agent for the treatment of Alcohol Use Disorder (AUD) in persons with certain target genotypes related to the serotonin transporter and receptor genes. Key ONWARD highlights include:
All 25 planned investigative sites are active.
According to a study, around 20,000 genes are present in the human body, all of which interact with the nutrients in the food, either directly or indirectly. For instance, carbohydrates increase the expression of genes responsible for the synthesis of enzymes and transporters involved in their metabolism.
In some areas, say Alzheimer’s disease, we have growing collections of imaging, gene, cerebrospinal fluid (CSF) and blood markers to follow and look at target engagement of our drugs,” says James Vornov, MD, PhD, Vice President of the Medical Department at Medpace.
The US Food and Drug Administration (FDA) has granted approval to Nulibry (fosdenopterin) for reducing the risk of death associated with molybdenum cofactor deficiency type A (MoCD Type A), making it the first treatment for the ultra-rare, genetic metabolic disorder. The approval was granted to BridgeBio Pharma, Inc.
Factors Contributing to Kidney Diseases There are several factors which contribute to an increased risk of developing kidney diseases, including genetic causes and underlying metabolic causes ( diabetes, high blood pressure, aging and obesity ), which when combined with other factors increase the risk of developing kidney diseases.
HIV drug resistance is caused by changes in the genetic structure of HIV that affects the ability of drugs to block the replication of the virus. such as the integrase gene and assay validation recommendations. The recommended specimen types for HIV drug resistance genotyping are plasma or dried blood spots.
The Chinese biopharmaceutical industry is growing in leaps and bounds, but there is still a huge unmet need when it comes to getting patients access to the breakthrough therapeutic modalities and platforms like RNAi, cell and gene therapy and others. A solution could be at hand with Overland Pharmaceuticals.
PH1 is an ultra-rare genetic disease characterized by oxalate overproduction. About Primary Hyperoxaluria Type 1 (PH1) PH1 is an ultra-rare genetic disease that affects an estimated one to three individuals per million in the United States and Europe. Oxlumo should be administered by a healthcare professional.
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