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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.
Around 8% of human DNA is made up of genetic sequences acquired from ancient viruses. Our latest research suggests that some ancient viral DNA sequences in the […]
Rockville, Emmes, a global, full-service Clinical Research Organization dedicated to supporting the advancement of public health and biopharmaceutical innovation, today announced a partnership with MedGenome aimed at accelerating breakthrough treatments, powered by human genomics, for rare disease patients.
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.
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.
Biotechnology company Hopewell Therapeutics has raised $25m in seed financing to accelerate the development of next-generation lipid nanoparticles for targeted delivery of genomic medicines. Hopewell Therapeutics is engaged in discovering, synthesising and developing advanced ttLNPs to provide next-generation genomic medicines.
Scientists at the National Institutes of Health have identified new genetic risk factors for two types of non-Alzheimer's dementia. These findings were published in Cell Genomics and detail how researchers identified large-scale DNA changes, known as structural variants, by analyzing thousands of DNA samples.
Team of Japanese and European scientists identify a novel genetic mitochondrial disorder by analyzing DNA samples from three distinct families Credit: Fujita Health University DNA ligase proteins, which facilitate the formation of bonds between separate strands of DNA, play critical roles in the replication and maintenance of DNA.
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.,
Saying geneticsresearchers inconsistently and inappropriately use racial and ethnic labels that fail to capture the complex patterns of human genetic variation, the National Academies of Sciences, Engineering, and Medicine issued a report Tuesday calling for a transformation in how such descriptors are used.
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.
Collaborative research led by investigators at Dana-Farber/Boston Children's Cancer and Blood Disorders Center defines a novel approach to understanding how certain proteins called transcription factors determine which genetic programs will drive cell growth and maturation. The study is published in the journal Science.
Scientists have developed a powerful, inclusive new tool for genomicresearch that boosts efforts to develop more precise treatments for many diseases by leveraging a better representation of the genetic diversity of people around the world.
Genome sequencing, where scientists use laboratory methods to determine a specific organism’s genetic makeup, is becoming a common practice in insect research.
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.
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.
The company would begin sequencing and analyzing the DNA of 150,000 people from Mexico City, thanks to a research collaboration with the University of Oxford. As the only Mexican geneticist at Regeneron, Gonzaga saw this as a unique opportunity.
When using genetic screening to identify clinical trial 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! Read the full article!
LAWRENCE — A comprehensive new genetic and statistical study from researchers at the University of Kansas reveals two groups of scrub jays — one in Mexico and one in Texas — deserve status as independent species.
UK health authorities on Tuesday announced a pioneering research programme using the genomes of 100,000 new-born babies, to detect rare genetic illnesses and speed up treatment.
The deal will see the integration of Scribe’s new CRISPR by Design approach and Prevail’s expertise in developing genetic medicines for neurological disorders for specific genetic targets. Scribe will receive $75m, including an upfront payment and equity investment via a convertible note.
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first approach to clinical research, which starts with clinical findings. The study was published in the American Journal of Human Genetics.
A Swedish scientist won the 2022 Nobel Prize in medicine or physiology on Monday for his groundbreaking research into the evolutionary history of humankind. Pääbo unlocked scientists’ understanding of how genes from these extinct relatives have been passed down to present-day humans. Read the rest…
That was the message Chinese scientists delivered Monday on the opening day of the Third International Summit on Human Genome Editing in London. Continue to STAT+ to read the full story…
How can Canada optimize the impact of human genomic sequencing to increase our understanding of disease? New guidance in Canadian Medical Association Journal (CMAJ) lays out the key elements for obtaining patient consent for researchers and policymakers in this growing field.
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. . “It would have saved me and the NHS a lot of money. .” Why not lead?”
Next week, hundreds of scientists from around the world will convene in London for an international summit on genome editing. That technology, which enables scientists to easily excise, alter, or replace specific sections of DNA, was awarded the 2020 Nobel Prize for Chemistry. Continue to STAT+ to read the full story…
EMBARGOED by PLOS GENETICS until March 3, 2022, 2 pm, ET Contact: Gina DiGravio, 617-358-7838, ginad@bu.edu (Boston)—You are probably familiar with the term that some people carry “a lot of extra baggage.”
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.
LONDON — England is launching a pilot program sequencing the genomes of up to 100,000 newborns to see if such a strategy can speed up the detection of genetic illnesses. The Newborn Genomes Programme will scan DNA for mutations that can cause some 200 conditions.
Researchers at Karolinska Institutet and Karolinska University Hospital have together with health economists at Linköping University analyzed costs for various methods to diagnose genetic causes of intellectual disability.
Researchers at the RIKEN Center for Sustainable Resource Science (CSRS) in Japan have developed a way to improve crop quality without needing to create special genetically modified plants. Rather that changing plant genomes, the new technique relies on a spray that introduces bioactive molecules into plant cells through their leaves.
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 Genetic Disease (iCGD) to advance life sciences.
Credit: Encarnacion/UConn Photo The advent of genome science has given researchers an unprecedented ability to understand the root causes of a host of conditions.
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.
How many children an individual may have is influenced by reproductive biology and human behavior, according to the largest study to date, which identifies genetic determinants.
New research in the March 2023 issue of JNCCN—Journal of the National Comprehensive Cancer Network highlights how the lack of genomicresearch for people with African ancestry, particularly those from the Sub-Saharan region, is hampering efforts to reduce disparities for people with cancer.
However, more immeasurable characteristics such as personality, behaviour, and even intelligence are all influenced by genetics to varying degrees. All that DNA is organised into hereditary units called genes, with humans having about 25,000 genes collectively known as the genome. The first human genome cost $2.7bn to sequence.
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.
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.
LONDON — Using genome sequencing greatly expanded the number of diagnoses researchers could provide for children with developmental disorders from thousands of families across the United Kingdom and Ireland, researchers reported in a new study Wednesday. Read the rest…
In a study published in Human Genetics, QUT Professor Dale Nyholt and QUT Ph.D. researcher Rafiqul Islam, describe using large-scale genome-wide associations studies (GWAS) summary statistics to analyze hundreds of thousands of human genomes from headache and migraine sufferers and non-sufferers.
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