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At the recent World Orphan Drug Congresses (WODC) in Europe and the United States, Worldwide ClinicalTrials Derek Ansel , Vice President, Therapeutic Strategy Lead, Rare Disease, facilitated roundtable discussions to explore the operational challenges and ethical barriers surrounding genetic testing.
Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.
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 clinicaltrial advancement. What are the benefits and limitations to using genetic testing?
Around 8% of human DNA is made up of genetic sequences acquired from ancient viruses. These sequences, known as human endogenous retroviruses (or Hervs), date back hundreds of thousands to millions of years – with some even predating the emergence of Homo sapiens.
When using genetic screening to identify clinicaltrial volunteers, a sponsor’s obligations for further testing and disclosure of results to patients and families are unclear, especially when the results have no impact on medical management. Guidance in this area is much needed. Read the full article!
Fulgent Genetics has acquired clinical-stage therapeutics development firm Fulgent Pharma for a total deal price of nearly $100m. According to the deal, the purchase price, contingent on adjustments, has to be paid by Fulgent Genetics as a combination of cash on hand and its shares of common stock.
Last week geneticist Dr Charles Steward shared with us his experiences of searching for a genetic cause for his children’s rare neurological diseases. Here he gives us a deeper look at how genomic medicine is evolving and the barriers that are preventing it from reaching its full potential.
Both the Pfizer and Moderna vaccines copied RNA sequence from the virus genome and found a way to manufacture it at scale with high-level processes and quality control. These vaccines were developed using different “platform technologies” that involve slotting genetic material from the virus into a tried and tested delivery package.
SOPHiA GENETICS is expanding its collaboration with AstraZeneca to include multimodal approaches for developing cancer drugs. This collaboration aims to use the global SOPHiA DDM platform, a cloud-native platform of SOPHiA GENETICS, and multimodal algorithmic capabilities for AstraZeneca’s oncology portfolio.
The application of whole genome sequencing (WGS) to derive a more complete understanding of cancer has been a central goal of cancer researchers even before the first human genome was decoded in 2003. Ultima Genomics has already partnered with other leading biotech startups.
Alongside drugs and therapeutics, data collection and technology enhancements have redefined the traditional healthcare experience, especially within oncology, and genomic profiling has become a significant factor in allowing for personalised care. In other words, every person’s cancer has its own genetic construct. Tailored oncology.
One of the more intriguing developments in cancer research in recent years is the growing understanding of clonal hematopoiesis, a phenomenon where blood cells expand from a single clone due to genetic mutations. Clonal hematopoiesis increases in prevalence with age and can precede hematologic malignancies.
A group representing pharma companies selling precision therapies for cancer has called for a change to the way genomic testing is done in Scotland, to make sure patients get access to targeted drugs. “It would have saved me and the NHS a lot of money. .” Why do we always have to follow? Why not lead?”
CAMP4’s CSO David Bumcrot PhD tells Pharmaceutical Technology that the company plans to see clinicaltrials go forward for their urea cycle disorder programs late next year. However, in patients with urea cycle disorders, genetic defects result in inadequate amounts of the enzymes needed to convert nitrogen into urea.
The Department of Health Abu Dhabi (DoH) has signed a memorandum of understanding with integrated healthcare company M42 and AbbVie Biopharmaceuticals to advance personalised medicine and genomics in the city. M42 was created through the combination of Mubadala Health and G42 Healthcare.
This capital will accelerate the companys clinical programs and support its pipeline of investigational drugs aimed at treatments for metabolic diseases like Prader-Willi syndrome (PWS). Current Share Price: PWS is a complex, genetically determined neurodevelopmental disorder that affects multiple organ systems.
Fortunately, technological advances — such as those pioneered by Menarini Silicon Biosystems — have allowed researchers and healthcare practitioners to decipher these issues, drilling down to single-cell genomic levels to uncover variations that may account for reduced drug efficacy or biochemical resistance. billion in 2019.
LifeMine has developed an industrialised, genomics-based discovery engine that it hopes will take a broad, systematic approach to identifying new compounds from fungi and screening them for activity against disease targets. Greg Verdine – LifeMine. Image by jggrz from Pixabay .
GSK has entered a strategic partnership with Wave Life Sciences to progress the discovery and development of oligonucleotide therapies for new genetic targets. The alliance will merge the PRISM oligonucleotide platform of Wave and the capabilities of GSK in genetics and genomics.
Experts discuss the therapeutic landscape, treatment gaps, regulatory considerations and clinicaltrial strategies. Breast Cancer Multiomics: Unified Insights in Tumor Heterogeneity This on-demand webinar introduces a cutting-edge single-cell multiomics method designed for garnering detailed genetic insights into breast cancer.
HAV usually hijacks TENT4 and utilises it for the replication of its own genome. They also noted how the oral treatment could lower the ability of the virus to cause liver injury in mice genetically modified to develop HAV infection and disease.
Lung-MAP is a pioneering clinicaltrial designed to simultaneously test multiple treatments for non-small cell lung cancer (NSCLC) under a single, comprehensive “umbrella” protocol. Could you give us an overview of the Lung-MAP trial and its significance in the treatment of NSCLC?
CRISPR is notable for engineering living cells, allowing scientists to edit, turn off, delete, or replace genes in a cell’s genome. It is difficult to control where the viral vectors insert genes in the genome, and it is difficult to manufacture large quantities of clinical-grade viral vectors.
ClinicalTrial Design and Optimization: Generative AI can aid in the design and optimization of clinicaltrials. By simulating patient populations, generating synthetic trial data, and optimizing trial protocols, generative models can enhance the efficiency and effectiveness of clinicaltrials.
Voxzogo’s approval was based on an intermediate clinical endpoint (though accelerated approvals can also come from surrogate endpoints ). This means that full approval can only come from a clinicaltrial that assesses adult height. Voxzogo also received a priority review voucher.
This includes analyzing how drug combinations may impact individual patients or groups of patients before even entering a clinicaltrial. With a staggering 90 percent of drugs failing in clinicaltrials, AI has the potential to help improve these statistics.
The deal comes a year after Intellia and partner Regeneron reported promising results from the first clinicaltrial of a drug used to edit the genomes of cells within the body, in patients with rare disease ATTR amyloidosis. billion in potential milestones if the project advances through development and onto the market.
The COVID-19 Host Genetics Initiative was created to study the relationship between variation in the human genome and SARS-CoV-2 infection. Insights into why some people develop more severe symptoms than others and how to better treat the disease are desperately needed. This is an […].
not reached) in genomic analysis of post-progression samples from patients receiving second-line osimertinib. Another genetic change at the C797 residue in the ATP binding region of EGFR’s exon 20 has emerged as a key mechanism of resistance to osimertinib. months, 95% CI 1.3,
The power of leveraging clinical data to decipher disease mechanisms and fuel drug discovery has rapidly grown in the era of genomics and personalized medicine. Genuity Science focuses on population genomics as a tool to derive novel biological insights through partnerships with industry-leading pharmaceutical and biotech companies.
US-based Tempus has built a precision medicine platform – powered by artificial intelligence and machine learning – that sifts through a large library of anonymised patient data, including results of clinical, molecular, and genomic testing.
Accenture Applied Intelligence announced a new data and analytics approach to manage and derive insights from paediatric acute myeloid leukaemia (AML) genomic data, with the potential to improve precision medicine.
Insights from project could potentially improve precision medicine use for paediatric AML.
.” Hopes were high that a drug developed by Sangamo based on its zinc finger nuclease (ZFN) genome-editing technology could lead to the first therapy that could correct the genetic defect n MPS I, but that candidate – called SB-318 – flunked out in a clinicaltrial reported in 2019 and was discontinued.
At the same time, thought leaders in the field are endeavoring to ensure that real people—the ultimate beneficiaries of these rapidly evolving capabilities for clinicaltrial design and management—are not getting lost in the shuffle. Undoubtedly, the expectations for precision medicine are high,” Olsen adds.
This change expanded the definition of HGT research to include research using nucleic acids that are able to replicate, be transcribed, translated into protein, and/or integrate into the host genome. Since then, however, certain genetic engineering technologies (e.g., Since then, however, certain genetic engineering technologies (e.g.,
Geneticists from Trinity College Dublin have discovered how a specific genetic mutation called H3K27M causes a devastating, incurable childhood cancer, known as diffuse midline glioma (DMG), and – in lab studies working with model cell types – successfully reverse its effects to slow cancer cell growth with a targeted drug.
In a clinicaltrial, participants demonstrated a 98% success rate after six months post implantation, with arteries widened successfully and no stent fractures observed. There, plasma is separated, and tumor DNA is identified by detecting genetic mutations, methylation patterns and fragmentation signals.
Data Cleaning One of the most time-consuming tasks in CDM is data cleaning, which involves identifying and correcting errors and inconsistencies in the data collected during a clinicaltrial. Data Validation AI can also be used to validate data collected during a clinicaltrial.
Armed with a $100 million second-round financing, CAMP4 Therapeutics is preparing to start the first clinicaltrial 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. .
The COSMIC (Catalogue of Somatic Mutations in Cancer) database, operated by the Wellcome Sanger Institute, grew out of the work of the Cancer Genome Project and has been gathering data on mutations associated with specific cancers for almost 17 years. The post COSMIC database matches drugs to cancer mutations appeared first on.
As the co-founder of Blueprint Genetics, a proud member of the Quest Diagnostics family, I’ve witnessed firsthand the complexities and nuances involved in rare disease diagnostics and the development of orphan drugs. At Blueprint Genetics, we are committed to making sense of this complexity.
Mount Sinai researchers have developed a new model that uses DNA and RNA sequencing data from hundreds of patients to identify specific genes and genetic alterations responsible for never-before-defined subtypes of a blood cancer called multiple myeloma. doi: 10.1126/sciadv.abg9551. Source link: [link].
They also address diversity in clinicaltrials by supporting efforts to improve the representation of underrepresented patient populations. AI-driven models also help in identifying the most effective treatment regimens based on patient-specific factors, including genetic makeup and treatment history. Nanostics Inc.
The clinical study also highlighted the favorable tolerability profile of Filsuvez. The most commonly reported adverse reactions in the clinicaltrial were pruritus (itching) and pain at the wound application site, occurring in 7.3 Specifically, 41.3 percent observed in the control gel arm. percent of cases.
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