Scienmag

JUNE 16, 2025

This novel condition, termed DIAL syndrome, has been identified by an international consortium of cancer genetics experts spearheaded by researchers at the University of Birmingham, with funding support from Cancer Research UK. Detailed cellular analyses unveiled the fundamental biological role of the DIAPH1 protein in DNA repair.

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Scienmag

JUNE 17, 2025

Unlocking these enzymes would enable transferring their genetic blueprints into fast-growing industrial microorganisms, like yeast, converting them into microbial factories that produce Taxol on scales far surpassing what nature offers. This comprehensive gene set promises to transform industrial drug manufacture.

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Worldwide Clinical Trials

JANUARY 24, 2024

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.

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Scienmag

JUNE 17, 2025

At the forefront of this paradigm shift is Professor Diego di Bernardo, Genomic Medicine Program Coordinator at the Telethon Institute of Genetics and Medicine (TIGEM) in Naples and Professor of Biomedical Engineering at the University of Naples “Federico II.” His groundbreaking project, DIMERCIRCUITS, backed by a prestigious €2.5

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Scienmag

JUNE 9, 2025

A recently published study has uncovered a significant shortfall in the genetic testing of patients diagnosed with endometrial cancer—commonly referred to as womb cancer—across the UK and Ireland. Affecting approximately one in every 300 individuals, it remains underdiagnosed with a staggering 95% of carriers unaware of their genetic status.

Genetics 59

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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 (..)

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Scienmag

JUNE 18, 2025

Despite their importance, the fine-scale functional landscape within these regulatory sequences has remained elusive, hindering our ability to interpret the consequences of genetic variation in human disease contexts. Enhancers act as molecular switches that integrate signals and guide gene expression programs.

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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.

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Pharmaceutical Technology

JUNE 8, 2023

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.

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Genomics Genome Medicine Development 130

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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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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Medical Xpress

APRIL 4, 2025

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.

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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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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.

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Genomics Genome Medicine Gene 119

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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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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Scienmag

JUNE 10, 2025

A groundbreaking international study has unveiled compelling insights into the intricate relationship between genetics, socioeconomic status, and brain health. Using what is known as a genome-wide association study (GWAS), the team scanned the human genome for variations correlated with SES-related traits.

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Genetics Genomics Genome Research 66

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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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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Genome Project Genetics Research Genome 139

Scienmag

JUNE 6, 2025

A groundbreaking genetic study has uncovered new insights into why orthokeratology lenses, an innovative treatment increasingly used to slow the progression of myopia in children, work more effectively in some patients than others. However, these variables alone could not account for the full spectrum of treatment outcomes observed.

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Pharmaceutical Technology

FEBRUARY 13, 2023

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.

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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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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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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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Scienmag

JUNE 13, 2025

Singapore – Scientists from the A*STAR Genome Institute of Singapore (A*STAR GIS) have developed a new artificial intelligence (AI)-based method called “Fragle” that makes tracking cancer easier and faster using blood tests. ” While existing methods have their strengths, they are often complex and expensive.

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DNA Genomics Genome Genetics 59

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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Genetics Genome Genomics Protein 98

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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Genomics Genome Genetics Research 97

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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Genomics Genome Genetics Scientist 98

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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Genomics Genome Scientist Research 98

Scienmag

APRIL 15, 2021

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.

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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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Genetics Medicine In-Vivo Gene Therapy 130

Scienmag

JUNE 12, 2025

A University of Queensland-led project has developed a tool to standardise genetic testing of koala populations, providing a significant boost to conservation and recovery efforts. There are very strict rules about relocating koalas, but this could be key to improving and increasing the genetics of populations under threat,” she said.

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Genetics Engineer Genomics Genome 59

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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Genetics Genome Genomics 98

Scienmag

SEPTEMBER 29, 2021

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.

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Genetics Research Genome Genomics 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.

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Scienmag

FEBRUARY 23, 2022

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.

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