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At the recent World Orphan Drug Congresses (WODC) in Europe and the United States, Worldwide Clinical Trials 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. One diagnostic example that I discussed in my presentation is autism.
The Medicines and Healthcare products Regulatory Agency (MHRA) aims to launch a pilot genetic biobank that will gather patient data to associate drug-related adverse events to their genetic makeup. The Yellow Card biobank will launch as a joint venture with the UK-government funded entity Genomics England on June 1.
2022 was a banner year for genomics. In March, the collaborative T2T consortium published the first complete telomere-to-telomere sequence of the human genome, filling in the last 8% of the 3 billion base pairs that make up our DNA.
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 field of genomic medicine has reached a true turning point. With scientists fervently developing mRNA vaccines, nucleic acid therapeutics, and viral vector-based gene therapies, clinicians are set to have a growing number of tools available to treat a wide range of conditions, from infectious diseases to genetic disorders and more.
Swiss medical data specialist Sophia Genetics has launched a platform that will sift through data generated at more than 1,000 hospitals around the world to try to work out how the COVID-19 pandemic will evolve in the coming months and years. The post Sophia Genetics launches AI tool to find COVID-19 ‘unknowns’ appeared first on.
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.
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.
Analysing almost eight thousand tumours across 33 different cancers, researchers say this marks the first time that a framework was created to understand the role of internal factors in driving such genomic alterations. Genomic research have greatly expanded our understanding of disease pathophysiology over the years.
In the last three years alone, there have been over 633,000 patents filed and granted in the pharmaceutical industry, according to GlobalData’s report on Innovation in Pharmaceuticals: Genetically modified animal models. Regeneron Pharmaceuticals is one of the leading patent filers in the generation of genetically modified animal models.
Drug development has long been an issue for the pharma industry, due to the expense and the high failure rate of potential treatments. 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.
David Del Bourgo (CEO and co-founder, Whitelab Genomics) has always been passionate about introducing disruptive, innovative technologies to markets. We founded Whitelab Genomics after realising the potential to use data, data science, and AI in a more systematic way to develop genomic therapies,” Del Bourgo says.
Solid tumors exhibit genetic variances between patients with a shared diagnosis and within a single patient, even across one tumor. The tumor microenvironment can also impact drug efficacy, while strict eligibility criteria can limit the pool of potential participants, affecting the generalizability of study findings.
Although recently approved drugs can treat seizures more safely, they do not treat the comorbidities that patients experience. Gene therapies are an attractive way of targeting the underlying genetic mutations, but traditional approaches cannot be used while targeting mutations for Dravet Syndrome, forcing researchers to develop new ways.
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?”
This reach allows us to support 82% of the novel drugs and therapeutic products approved by the US FDA, including 63% of those specific to oncology,” Reddy states. Everyone’s genetic makeup differs, and each person’s cancer experience is unique to them – how cancer develops, how fast it spreads, which drugs it responds to, and more.
Phosphorus, a leading preventative genomics company, has developed the first comprehensive preventative genetic test for consumers. The test is called GeneCompass and features medical-grade technology to provide a holistic assessment of genetic health and wellness. The Phosphorus GeneCompass test has a list price of $249.
Describing a previously unknown genetic condition that affects children, researchers at University of California San Diego School of Medicine and Rady Children’s Institute for Genomic Medicine say they also found a potential method to prevent the gene mutation by administering a drug during pregnancy.
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.
Individuals that develop lung cancer with no smoking history are genetically distinct from those who develop the cancer with a smoking history. With advances in DNA sequencing, such as the technology developed by Foundation Medicine, the genetic profiles of lung cancer patients could be annotated to then select appropriate treatment options.
In a pivotal move for the food industry, the US Food and Drug Administration (FDA) has unveiled industry guidance for genome edited foods derived from plants. This landmark guidance aims to demystify the FDA’s risk-based approach towards both genome edited foods and all new plant varieties. What is Genome Editing?
In preparation for this, drug manufacturing will begin later this year and will be outsourced to external contract manufacturing organisations (CMOs). However, in patients with urea cycle disorders, genetic defects result in inadequate amounts of the enzymes needed to convert nitrogen into urea.
Research offers new lead for cancer drug discovery Credit: Rensselaer Polytechnic Institute TROY, N.Y. — An antioxidant found in green tea may increase levels of p53, a natural anti-cancer protein, known as the “guardian of the genome” for its ability to repair DNA damage or destroy cancerous cells.
Alphabet subsidiary and precision health company Verily recently announced a breakthrough in its AI drug discovery GPCR research collaboration with Sosei Heptares. Essentially, the collaboration brought together both “the right expertise and the right technology”, opening up myriad possibilities for targeting GPCRs within the human genome.
Last year, the FDA's Center for Drug Evaluation and Research approved 50 drugs. A new study found that 33, or 66% of them, were supported with genomic data.
AAV genomes are highly compact, with overlapping coding regions, alternate splicing schemes, and multiple transcription initiation codons. There are two main genes in the AAV genome, rep and cap, which encode nine different proteins. Encoded Therapeutics develops gene therapies for the treatment of severe genetic disorders.
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.
The rankings are based on each companys ability to tackle critical challenges from drug delivery and diagnostics to personalized therapies using cutting-edge science. The company also launched Learn NPC, an awareness campaign aimed at improving early diagnosis and supporting families affected by this rare genetic disorder.
However, despite the work still left to be done, there are now a growing number of treatments in the pipeline and 2020 proved to be a remarkable year for orphan drug approvals, with the US FDA approving more orphan designated treatments than non-orphan drugs. The potential to leverage genomic data. Headway being made.
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.
million ($40 million) first-round financing that will be used to explore so-called ‘dark’ regions of the human genome. Nucleome’s platform adds 3D genomic information to a wealth of available genomic data, uncovering a new dimension of information that is disease as well as cell type-specific.
GlaxoSmithKline has thrown its financial and drug development weight behind LifeMine Therapeutics, a US startup that aims to find new therapeutics from fungi – widely regarded as an underexplored resource of biologically-active compounds. Greg Verdine – LifeMine. Image by jggrz from Pixabay .
New advances in heart failure genomics are helping to address this challenge. Experts from Servier and Genuity Science recently spoke on a webinar about using genomics data to drive drug development in heart failure and identify new targets for novel therapeutics. Watch this on-demand webinar to hear from these experts.
Swiss medical data specialist Sophia Genetics has raised $110 million in an oversubscribed funding round that will be used to boost its headcount and international presence and prepare to take its shares public. The post $110m financing sets up US, Asia expansion for Sophia Genetics appeared first on.
PHILADELPHIA – While gene mutations can lead to drug resistance, researchers in the Perelman School of Medicine at the University of Pennsylvania have identified an important, non-genetic adaptation that could also drive resistance to targeted therapy in T cell leukemia, a type of blood cell cancer.
More than 80% of genomics studies have been conducted in people of European descent. More than 80% of genomics studies have been conducted in people of European descent. Read the rest…
The first ever clinical data with a CRISPR/Cas9 drug used to edit the genomes of cells within the body has yielded impressive results in patients with ATTR amyloidosis, a life-threatening rare disease. . — Eric Topol (@EricTopol) June 26, 2021. — Eric Topol (@EricTopol) June 26, 2021.
In collaboration with VGP, the research group has published a research paper in Nature on platypus and echidna genomes early this year (see report in the right column).
A genome-wide association study (GWAS) published in the Journal of Clinical Oncology has identified a potential association between a genetic variant and anthracycline-related cardiomyopathy in childhood cancer survivors. Anthracyclines are a widely used chemotherapy drug class to treat various forms of cancer.
Genome editing is an exciting but still nascent field, and companies in the area face as many obstacles as they do opportunities. They wanted someone who had lots of experience in drug development, was a molecular biologist, and was stubborn enough to take on CRISPR!” billion in funding.
Chaired by the Genetic Alliance, the virtual meeting saw representatives from Scotland, England, Wales, and Northern Ireland discuss the implementation of the UK Government’s Rare Disease Framework. We now know that 80% of rare diseases have a genetic origin. Genomic technology, therefore, has a key role to play in our work,” he said.
Researchers from a USC-led consortium have discovered 15 “hotspots” in the genome that either speed up brain aging or slow it down — a finding that could provide new drug targets to resist Alzheimer’s disease and other degenerative brain disorders, as well as developmental delays. The big game-changer […].
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