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.

Genomics 118

Genomics Genome Genome Project Genetics 118

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.

Genomics 97

Genomics Genome Bioinformatics Genetics 97

Scienmag

JULY 26, 2021

Collaboration signifies strong commitment by all stakeholders to maintain the journal’s high standards and expand its global prominence Credit: ACMG New York, July 26, 2021 – The American College of Medical Genetics and Genomics (ACMG), the only nationally recognized US medical professional organization solely dedicated to improving health (..)

Genetics 98

Genetics Genomics Genome Medicine 98

pharmaphorum

SEPTEMBER 14, 2020

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.

Genomics 111

Genomics Genome Medicine Gene 111

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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Genome Project Genomics Genome DNA 130

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.

Genomics 105

Genomics Genome DNA Genetics 105

Pharmaceutical Technology

MAY 25, 2023

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.

Biobanking 130

Biobanking Genetics Genome Project Genomics 130

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.

Genomics 98

Genomics Genome Genetics Gene 98

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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Genomics Genome Medicine Development 93

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.

Genome 102

Genome Genomics Clinical Trials Clinical Trials 102

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.

Genetics 136

Genetics Genome Genomics Vaccination 136

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.

DNA 144

DNA Genomics Genome Genetics 144

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.

Genomics 92

Genomics Genome Genetics Research 92

XTalks

MARCH 1, 2024

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?

Genomics 86

Genomics Genome Production Marketing 86

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.

Genomics 98

Genomics Genome Genetic Disease Genetics 98

STAT News

MARCH 3, 2023

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.

Genomics 111

Genomics Genome Gene Editing Genetic Disease 111

Worldwide Clinical Trials

DECEMBER 19, 2024

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.

Genetics 130

Genetics In-Vitro Drugs Clinical Trials 130

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.

Genomics 84

Genomics Genome Research Scientist 84

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.

Genomics 97

Genomics Genome Gene Genetics 97

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.

Genomics 96

Genomics Genome Genetics Research 96

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.

Genomics 82

Genomics Genome Scientist Research 82

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.

Genetics 142

Genetics DNA Genome Genomics 142

STAT News

MARCH 6, 2023

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…

Genomics 98

Genomics Genome Gene Editing Genetics 98

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…

Genomics 98

Genomics Genome Genetic Engineering Production 98

STAT News

APRIL 12, 2023

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…

Genomics 98

Genomics Genome Medicine Research 98

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.

Genomics 75

Genomics Genome Genetics Genotype 75

XTalks

NOVEMBER 10, 2020

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.

Genome 98

Genome Genomics Medicine Genetic Disease 98

STAT News

MARCH 22, 2023

Stanford cardiologist Euan Ashley and his research team received a Guinness World Record last year for sequencing a full human genome in just over five hours. Ashley is at the forefront of a push by researchers to make more genetic information available to patients facing major health care decisions.

Genomics 98

Genomics Genome Scientist Genetics 98

Scienmag

FEBRUARY 9, 2022

A new genomic analysis by an international team of scientists has now uncovered the genetic underpinnings of some of the most unusual features of Steller’s […].

Genomics 87

Genomics Genome Genetics Scientist 87

pharmaphorum

NOVEMBER 27, 2022

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?”

Genomics 86

Genomics Genome Genetics Medicine 86

STAT News

JANUARY 11, 2023

But genomics startup Element Biosciences on Wednesday announced it can now read a whole human genome for as little as $200 — the cost of a couple trips to the grocery store. SAN FRANCISCO — Decoding the billions of chemical letters that help shape who we are once cost a fortune.

Genomics 98

Genomics Genome DNA Genetics 98

STAT News

AUGUST 11, 2022

She had previously tried to convince her colleagues to sequence the genomes of people from Mexico, where researchers have found a stunning amount of human genetic diversity, but to no avail. As the only Mexican geneticist at Regeneron, Gonzaga saw this as a unique opportunity. “I was so pleased,” she said.

Genome 105

Genome Genomics Research DNA 105

Scienmag

JULY 13, 2022

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.

Genomics 84

Genomics Genome Research Genetics 84

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.

Genetics 98

Genetics Genomics Genome Protein 98

Scienmag

SEPTEMBER 22, 2020

– A Purdue Foundry-affiliated company with a growing reputation as a search engine for genome sequence data in life sciences has joined a nationally ranked health care startup accelerator. Credit: Karyosoft/Rajesh Perianayagam WEST LAFAYETTE, Ind.

Genomics 98

Genomics Genome Life Science Engineer 98

Pharmaceutical Technology

APRIL 12, 2023

Individuals that develop lung cancer with no smoking history are genetically distinct from those who develop the cancer with a smoking history. Exposure to environmental factors can cause gene fusion which leads to upregulation of the ROS-1 enzyme.

Genomics 130

Genomics Genome In-Vitro Gene 130

Medical Xpress

NOVEMBER 10, 2022

Researchers from The Hospital for Sick Children (SickKids) have uncovered new genes and genetic changes associated with autism spectrum disorder (ASD) in the largest autism whole genome sequencing analysis to date, providing better understanding into the 'genomic architecture' that underlies this disorder.

Genomics 75

Genomics Genome Gene Genetics 75