Scienmag

OCTOBER 27, 2020

In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease candidate variants identified first on exome and genome sequencing.

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Genetic Disease RNA Genetics Genome 69

BioTech 365

FEBRUARY 18, 2021

Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full Range of Genetic Diseases Illumina and the University Hospital of Tübingen Evaluate Potential of Whole Genome Sequencing to Improve Diagnosis of Full … Continue reading →

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Worldwide Clinical Trials

JANUARY 24, 2024

Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. Newborn Sequencing is a research initiative that allows for a baby’s full genome to be sequenced at birth, diagnosing their genetic diseases.

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Genetics Trials Clinical Trials Clinical Trials 168

Drug Discovery World

NOVEMBER 7, 2022

A new study led by Medical Research Council-funded researchers from UCL has found that tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases. . It also detected potential disease-causing variants in a further 3.9% Context . The study . of patients. .

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BioPharma Reporter

JUNE 19, 2023

Abu Dhabi’s Department of Health has collaborated with Mass General Brigham's International Center for Genetic Disease (iCGD).

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BioTech 365

OCTOBER 21, 2020

Fabric GEM’s accuracy validated across five leading genomics centers of excellence in the U.S. –(BUSINESS WIRE)–Fabric Genomics, a global leader in clinical interpretation of genomic data, announced today the launch of Fabric GEM, a novel algorithm that … Continue reading →

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STAT News

MARCH 1, 2023

Genome editing summits are generally friendly, nerdy affairs, but for a moment at a Lisbon hotel last June, the conversation at the FASEB genome engineering conference grew tense. ” It was a rare moment: Tessera had raised around $600 million and passed a $1 billion valuation, but published little in academic medical journals.

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Medical Xpress

MARCH 20, 2023

A new UCLA-led study suggests that advanced genome editing technology could be used as a one-time treatment for the rare and deadly genetic disease CD3 delta severe combined immunodeficiency.

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Genetic Disease Genome Genomics Genetics 81

STAT News

FEBRUARY 22, 2023

The Cambridge biotech company announced Wednesday that it will partner with Life Edit Therapeutics to develop potentially permanent treatments for rare genetic diseases and other conditions. Moderna is aiming to build a gene editing franchise powered by some of the same technologies used in its COVID-19 vaccines.

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Scienmag

MAY 26, 2022

— CRISPR has ushered in the era of genomic medicine. A line of powerful tools has been developed from the popular CRISPR-Cas9 to cure genetic diseases. ITHACA, N.Y.

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Gene Editing Genetic Disease Gene Genome 63

pharmaphorum

OCTOBER 4, 2022

AstraZeneca’s rare disease firm Alexion is set to expand its genomic medicine portfolio with the acquisition of gene editing specialist LogicBio Therapeutics, in a deal worth approximately $68 million. per share, a rare 660% premium on LogicBio’s share price. .

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Pharmaceutical Technology

FEBRUARY 23, 2023

The collaboration will combine the mRNA platform of Moderna with the gene editing technologies suite, including the base editing capabilities of Life Edit for the development of curative therapies to treat challenging genetic diseases. Life Edit will get an upfront payment and is eligible for potential milestone payments.

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Drug Discovery World

DECEMBER 5, 2022

Scientists have unlocked key insights into virus evolution, revealing new information that could help develop treatments for a wide variety of genetic diseases. . Many distinct types of parvoviruses infect mammals – including humans – without causing disease.

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Gene Therapy Gene Genetic Disease Genetics 52

Drug Discovery World

DECEMBER 5, 2022

A new partnership between industry and three rare disease foundations has formed with the goal of accelerating the development of precision drugs to treat rare neurodevelopmental disorders. . Understanding rare diseases remains a significant challenge.

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Development Genome Genomics Drugs 52

Drug Discovery World

APRIL 17, 2024

DS: You say on your website that your approach is applicable to any disease where increasing protein expression is beneficial. What diseases are you currently targeting? JMB: Hundreds of genetic diseases involve a missing or deficient protein and/or enzyme. Can you give some examples?

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pharmaphorum

JULY 20, 2022

The Cambridge, Massachusetts biotech has discovered that areas of the non-coding parts of the human genome – referred to by its chief executive Josh Mandel-Brehm (pictured above) as the “dark side” of the genome – actually produce regRNAs that control the expression of the 2% that codes for proteins.

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RNA Genetic Disease Drugs Protein 52

Drug Discovery World

MARCH 21, 2023

Although this technique is broadly used, predicting its efficiency when aimed at certain points in the genome can be challenging, making it hard to reliably overexpress certain genes. The stem cell line used differentiates into neurons, allowing the team to also gather information on CRISPRa efficiency in different cell types.

Research 52

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pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 86

Genome Genomics Genetics Genome Project 86

Roots Analysis

FEBRUARY 21, 2022

Since the introduction of a gene sequencing method by Frederick Sanger in 1977, the field of genomic data collection and analysis has evolved significantly. Moreover, the manual protocols require extensive manipulation, costly reagents and long duration of skilled genomic library production. Advantages of Next Generation Sequencing.

Marketing 52

Marketing Gene Sequencing DNA Genome 52

pharmaphorum

SEPTEMBER 9, 2020

Geneticist Dr Charles Steward has spent his career studying the human genome – but his work became much more personal when his children were diagnosed with severe neurological diseases. Charlie told pharmaphorum how his search for a genetic cause has led him to straddle the divide between scientist and patient advocate.

Genome 76

Genome Genomics Genetics Genome Project 76

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

Pharmaceutical Technology

JULY 29, 2022

According to Bumcrot, regRNAs are “RNAs that arise out of the non-coding genome”. In order to find the specific RNA sequences for a genetic disease, the biotech is using an AI- and machine learning-based approach. Their platform identifies which regRNAs control the specific gene of interest.

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The Pharma Data

DECEMBER 13, 2020

which develops genome editing technologies to accelerate drug discovery and develop novel therapeutics for a broad range of diseases, today announced the appointment of Bo Zhang, Ph.D., 14, 2020 10:00 UTC. BEIJING & CAMBRIDGE, Mass.–( –( BUSINESS WIRE )– EdiGene, Inc. as Head of Business Development.

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Pharmaceutical Technology

MAY 8, 2023

Innovation S-curve for the pharmaceutical industry Zinc-finger nucleases is a key innovation area in pharmaceutical Zinc finger nucleases (ZFNs) are tools used in genetic engineering to cleave a chosen genomic sequence. ZFNs are also used to create a new generation of genetic disease models called isogenic human disease models.

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Medical Xpress

FEBRUARY 9, 2023

In a study appearing today in JAMA Network Open, Rady Children's Institute for Genomic Medicine (RCIGM) researchers found that the contribution of genetic diseases to infant deaths was higher than previously recognized.

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pharmaphorum

OCTOBER 5, 2022

.” The partners are still in the discovery stage of the collaboration, and Sanofi will take full responsibility for the programme once a drug candidate to take forward into preclinical and clinical testing has been selected.

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Drug Discovery World

FEBRUARY 27, 2023

The rare genetic metabolism disorder called Sanfilippo syndrome Type A- or Mucopolysaccharidosis Type IIIA (MPS-IIIA)- is a genetic disease with devastating effects on the central nervous system affecting around one in 70,000 children.

Gene Therapy 52

Gene Therapy Gene Genetics Genetic Disease 52

Drug Discovery World

MAY 11, 2023

Ubiquigent’s Sheelagh Frame, said: “It was wonderful to share experiences and thoughts about building better workplaces alongside some other inspiring women in life science.” However, she also presented thoughts in a technical update, Targeted Protein Degradation – Progress, Direction and Prospects.

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The Pharma Data

JANUARY 17, 2021

The Undiagnosed Disease Network (a consortium of tertiary care institutions for that purpose) directs a large number of patients to n-Lorem, but most come from physicians. Genetic diseases are vastly more common and more complex than we used to think.”. This year we are preparing for formal fundraising,” he said.

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XTalks

APRIL 24, 2023

Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.

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Gene Therapy Gene Trials Clinical Trials 95

XTalks

APRIL 15, 2021

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.

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Development Drugs Genome Genomics 98

Drug Discovery World

MARCH 24, 2023

Israeli researchers have developed a drug that is effective in treating a rare genetic muscle disease. The team demonstrated that the disease is caused by a mutation in the gene encoding HMG CoA reductase, inhibiting the enzyme’s activity.

Research 52

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Drug Discovery World

MARCH 6, 2024

To find new ways of diagnosing and treating complex diseases we first must understand the mechanisms underpinning their key pathological drivers, how these relate to different patient subgroups, and which drugs might be useful in ameliorating their effects – this is the basis of precision neuroscience.

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XTalks

FEBRUARY 14, 2022

The UK’s National Health Service (NHS) has recommended the use of Libmeldy for the treatment of the rare genetic disease metachromatic leukodystrophy (MLD). In the UK, Libmeldy will be administered by a specialist service through the Centre for Genomic Medicine at Saint Mary’s hospital in Manchester.

Gene Therapy 98

Gene Therapy Drugs Gene Gene Silencing 98

XTalks

MAY 4, 2021

The tool could also prove to be safer than conventional CRISPR-based gene therapies as it does not involve DNA editing, and thus would not cause potentially harmful off-target genomic changes. Epigenetic Editing with CRISPR. DNA methylation occurs endogenously in all mammalian cells in response to various stimuli.

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DNA Gene Gene Silencing Genome 98

XTalks

AUGUST 29, 2022

CRISPR is notable for engineering living cells, allowing scientists to edit, turn off, delete, or replace genes in a cell’s genome. This technology has powerful implications for therapeutic uses, such as replacing mutated or disease-causing genes or increasing the activity of cancer-fighting cells.

Gene Editing 98

Gene Editing DNA Gene Genome 98

Drug Discovery World

OCTOBER 12, 2023

When it comes to the technologies driving drug discovery, she thinks that the ability to specifically edit regions of the genome using CRISPR/Cas9 is particularly revolutionary. Dr Fraser, on the other hand, thinks cell and gene therapy (CGT) is the new frontier of disease treatment innovation.

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