Medical Xpress

JANUARY 5, 2023

A genotype-first approach to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding uncovered new relationships between genes and clinical conditions, broadened the traits and symptoms associated with known disorders, and offered insights into newly described disorders.

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pharmaphorum

JANUARY 26, 2023

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.

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Medical Xpress

MAY 4, 2023

A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the 98% of the genome that does not encode proteins.

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XTalks

APRIL 21, 2023

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.

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Pharmaceutical Technology

NOVEMBER 8, 2022

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.

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Worldwide Clinical Trials

DECEMBER 12, 2022

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.,

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BioPharma Reporter

OCTOBER 10, 2023

Childrenâs Mercy Kansas City, an independent pediatric health organization, has become the first health care system to replace old genetic tests, such as rapid exome and chromosomal microarray analysis, with the worldâs most-advanced genomic sequencing technology from PacBio.

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Scienmag

MARCH 3, 2022

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.”

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Pharma Mirror

NOVEMBER 16, 2021

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.

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AuroBlog - Aurous Healthcare Clinical Trials blog

MAY 30, 2024

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.

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Medical Xpress

DECEMBER 13, 2022

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.

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Medical Xpress

JANUARY 19, 2023

Advances in understanding the many different genetic causes of childhood-onset hearing loss indicate that genomic testing could assist in treatment planning, including optimal timing of treatment.

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STAT News

JULY 27, 2022

As the cost of DNA sequencing plummets, we’re fast approaching a point when decoding a human genome could cost $100 — about as much as the average American’s weekly grocery store run. Health systems are preparing to test programs that could lead to the use of whole-genome screening in millions of newborns.

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Medical Xpress

MAY 8, 2023

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.

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Pharmaceutical Technology

FEBRUARY 15, 2023

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.

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Pharmaceutical Technology

MAY 17, 2023

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. Under the deal, Prevail obtains exclusive rights to use Scribe’s CRISPR X-Editing (XE) technologies to develop the medicines.

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Worldwide Clinical Trials

FEBRUARY 6, 2023

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!

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Medical Xpress

NOVEMBER 7, 2022

Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics.

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XTalks

MAY 23, 2024

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.

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STAT News

DECEMBER 12, 2022

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.

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Pharmaceutical Technology

JUNE 30, 2022

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.

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STAT News

FEBRUARY 16, 2023

Zhang, one of the leading scientists in the groundbreaking field of genetic editing, had reached out two days prior to discuss a new company he was working on. Akin Akinc was scouring his email spam box last summer, looking for a missing message, when he stumbled across an unexpected email from a quite recognizable name: Feng Zhang.

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Medical Xpress

MAY 4, 2023

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.

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STAT News

MARCH 14, 2023

Saying genetics researchers 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. Read the rest…

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Medical Xpress

MAY 2, 2023

A team of gene therapists, oncologists, genetic sequencing experts and neurosurgeons affiliated with a host of institutions in the U.S. In their study, reported in the journal Science Advances, the group sequenced the genomes of members of glioma-affected families.

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Medical Xpress

FEBRUARY 23, 2023

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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STAT News

FEBRUARY 9, 2023

Researchers who believe genomics can transform human health love to recount success stories. But a new study focuses on a much more somber set of stories: those of infants who died with genetic diseases and who in some cases could have been treated, perhaps even saved. Read the rest…

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Medical Xpress

APRIL 21, 2023

Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult.

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Medical Xpress

DECEMBER 5, 2022

Donegal had a genetic condition called multiple osteochondromas, which causes benign bone tumors. One of the disease mutations is a new discovery, so this is the first time such information has been unlocked from ancient genomic data. Two men buried long ago in a medieval graveyard in Co.

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Pharma Times

AUGUST 19, 2024

In the UK study, researchers analysed 2,023 bowel cancers from the 100,000 Genomes Project

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Scienmag

JULY 22, 2022

Genome sequencing, where scientists use laboratory methods to determine a specific organism’s genetic makeup, is becoming a common practice in insect research.

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Scienmag

FEBRUARY 25, 2021

Scott Devine, PhD 64 human genomes sequenced will serve as new reference for genetic variation and predisposition to human diseases Credit: NIH Researchers at the University of Maryland School of Medicine (UMSOM) co-authored a study, published today in the journal Science, that details the sequencing of 64 full human genomes.

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pharmaphorum

OCTOBER 12, 2022

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.

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Scienmag

MARCH 10, 2022

Scientists have developed a powerful, inclusive new tool for genomic research 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.

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STAT News

APRIL 17, 2023

Genetic engineering has the potential to transform how we raise animals for meat and other products, making food safer, improving animal health and welfare, and shrinking animal agriculture’s environmental footprint. Pigs that are less likely to induce allergic reactions in humans. Read the rest…

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pharmaphorum

AUGUST 10, 2020

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.

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pharmaphorum

SEPTEMBER 12, 2022

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.

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