Scienmag

MAY 7, 2021

Credit: UPMC PITTSBURGH, May 7, 2021 – In a paper published today in Nature Communications, an international group of collaborators led by researchers at UPMC Children’s Hospital of Pittsburgh have identified a genetic cause of a rare neurological disorder marked by developmental delay and loss of coordination, or ataxia.

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Medical Xpress

MAY 16, 2023

That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical Medicine, University of Oslo. They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material.

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Pharmaceutical Technology

APRIL 26, 2023

MiNA Therapeutics has entered into a research collaboration and option licensing agreement with BioMarin Pharmaceutical to speed up the development of therapeutic ribonucleic acid activation (RNAa) candidates to treat rare genetic diseases. The option licensing agreement is based on early-stage clinical results.

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Scienmag

FEBRUARY 17, 2021

Credit: Mark Bauer/FSU College of Medicine Nearly a half-million people a year die from sudden cardiac death (SCD) in the U.S. A leading cause of SCD in young athletes is arrhythmogenic cardiomyopathy (ACM), a genetic disease in which healthy heart muscle is replaced over time […].

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Scienmag

MAY 12, 2021

This genetic disease leads to the formation of benign tumours which can massively impair the proper functioning of vital organs […].

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Drug Discovery World

NOVEMBER 7, 2022

Genomic healthcare data is critical to identify disease risk, ancestry, traits and response to medicines and aids in the development of new targeted therapies – precision medicines. WGS and Dante’s genomic reports will provide information about predisposition to genetic diseases, genetic carrier information and more.

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Pharmaceutical Technology

JANUARY 12, 2023

Solid Biosciences has entered a strategic research collaboration with Phlox Therapeutics to expedite the development of new therapies for rare cardiac diseases. Under the research partnership deal, the companies will develop new precision genetic medicines for a severe form of genetic dilated cardiomyopathy (DCM).

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Drug Discovery World

DECEMBER 19, 2023

Developer Immusoft has received FDA Orphan Drug Designation and Rare Pediatric Disease Designation for the therapy, designated ISP-001, in this indication. MPS I is a rare, genetic disease that affects the body’s ability to produce the enzyme alpha-L-iduronidase (IDUA).

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Scienmag

SEPTEMBER 18, 2020

Batten’s disease: research to understand and cure rare genetic diseases Québec City and Montréal, September 18, 2020 – Institut de la recherche scientifique (INRS) announces that Stéphane Lefrançois, a professor at its Centre Armand-Frappier Santé Biotechnologie (AFSB), has received a grant of more than $670,000 from the Canadian Institutes (..)

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Scienmag

DECEMBER 17, 2020

Researchers at the University of Illinois Chicago have published a study showing a promising approach to using drug repurposing to treat genetic diseases. A team from the […].

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Scienmag

APRIL 6, 2021

Researchers developed a new animal model to study a rare genetic disease that can lead to blindness at the age of 40-50.

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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. . Context . The study .

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Pharmaceutical Technology

AUGUST 17, 2022

The rights to the oRNA-LNP technology platform of Orna will be retained by the company, which will also progress various other fully owned programmes in oncology and genetic disease areas. In addition, Merck will make a $100m equity investment in Orna’s Series B funding round concluded recently.

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Scienmag

APRIL 11, 2022

Hamilton, ON (April 11, 2022) – A study led by McMaster University researchers has found that regular cycling can greatly improve mobility in patients with myotonic dystrophy (MD), a genetic disease that causes muscle degeneration.

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Drug Discovery World

MARCH 21, 2023

UK researchers, from the Wellcome Sanger Institute and collaborators, have used human stem cells and neurons to investigate what features influence how well CRISPR activation works for different sets of genes. The post New research begins to write the rules on CRISPR activation appeared first on Drug Discovery World (DDW).

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Scienmag

JANUARY 13, 2021

Study demonstrates the efficacy and therapeutic potential of select ionizable lipid nanoparticles for delivering mRNA to treat genetic diseases before birth Credit: Children’s Hospital of Philadelphia Philadelphia, January 13, 2021–Researchers at Children’s Hospital of Philadelphia and the School of Engineering and Applied Science (..)

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Scienmag

OCTOBER 14, 2020

Known as myofibrillar myopathies, these rare genetic diseases lead to progressive muscle wasting, affecting muscle function and causing weakness. Credit: Credit: Stephen Greenspan.

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Scienmag

JUNE 7, 2021

CSHL is a world leader in basic biological research and in target discovery for human genetic diseases like cancer. Autobahn will provide […].

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Pharmaceutical Technology

FEBRUARY 23, 2023

Moderna has entered a strategic research and development partnership with ElevateBio’s Life Edit Therapeutics to discover and develop new in-vivo mRNA gene editing therapies. Under the deal, both companies will partner on the research and preclinical studies, which will be funded by Moderna.

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The Pharma Data

OCTOBER 21, 2020

NASDAQ: AGIO), a leader in the field of cellular metabolism to treat cancer and rare genetic diseases, today announced that the company will host a conference call and live webcast on Thursday, November 5, 2020 at 8:00 a.m. CAMBRIDGE, Mass., 22, 2020 (GLOBE NEWSWIRE) — Agios Pharmaceuticals, Inc.

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Scienmag

JUNE 23, 2021

A Canadian research team has uncovered a new mechanism involved in Bourneville tuberous sclerosis (BTS), a genetic disease of childhood. The team hypothesizes that a mutation in the TSC1 gene causes neurodevelopmental disorders that develop in conjunction with the disease.

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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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Roots Analysis

FEBRUARY 26, 2024

Whether it was a common cold or a genetic disease, prayers and sacrifices to the gods were the only hope of a remedy at such times. It is possible that the legend of Big Foot may be based on an unfortunate person suffering from elephantiasis or gigantism or some other genetic predisposition that would have rendered him abnormal.

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Drug Discovery World

DECEMBER 5, 2022

AI-driven genomics company Genomenon will partner with COMBINEDBrain, SynGAP Research Fund, and SLC-6A1 Connect and their pharma partners to deliver genomic data on their diseases of focus. . Understanding rare diseases remains a significant challenge.

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Scienmag

FEBRUARY 3, 2021

Scientists illuminate the protein’s role in rare genetic diseases often diagnosed during infancy or childhood Scientists at Scripps Research have clarified the workings of a mysterious protein called G?o, o, which is one of the most abundant proteins in the brain and, when mutated, causes severe movement disorders.

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Delveinsight

AUGUST 17, 2021

The efficacy and safety results were produced from a broad research study, multicenter, open-label, randomized phase 3 trial data from the Keynote-581 trial of the first-line therapy indicated to the patients that resulted in an extension of their survival. The rarity of disease – 1.36 person/million around the globe.

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Scienmag

SEPTEMBER 11, 2020

New haven, CT: Researchers at Yale have identified a possible treatment for Duchenne muscular dystrophy (DMD), a rare genetic disease for which there is currently no cure or treatment, by targeting an enzyme that had been considered “undruggable.” ” The finding appears in the Aug.

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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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World of DTC Marketing

JANUARY 24, 2022

Particularly attractive are medicines ahead of the curve, aimed at diseases likely to move into the spotlight over the next few years. That investment, equal to the National Institutes of Health’s annual spending on medical research, would seem like great news for a world waiting for help with a pandemic. Only about $2.2

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XTalks

MAY 17, 2023

The Foundation for the National Institutes of Health (FNIH) announced this week that the Accelerating Medicines Partnership Bespoke Gene Therapy Consortium (AMP BGTC) has selected eight rare diseases for its clinical trial portfolio. In the US, more than 30 million people live with a rare disease.

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Drug Discovery World

AUGUST 28, 2023

And we’ve shown that, at least in animal models of these diseases, our drug molecules work really well. DS: Your research has so far focused on Parkinson’s disease and Amyotrophic Lateral Sclerosis (ALS). What are the challenges of research in this area? DS: What role does genetics play in autophagy?

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The Pharma Data

NOVEMBER 27, 2020

Nasdaq:RYTM), a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic diseases of obesity, announced today that the U.S. With this approval, Imcivree becomes the first-ever FDA approved therapy for these rare genetic diseases of obesity. BOSTON, Nov.

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Drug Discovery World

JANUARY 24, 2023

DMD and FA are rare, degenerative, genetic diseases that affect movement and eventually lead to paralysis. This is particularly important for rare diseases where it can be hard to identify suitable patients. In the FA study, teams worked with patients to identify key movement patterns and predict genetic markers of disease.

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pharmaphorum

AUGUST 24, 2021

Vertex Pharma has ramped up its involvement in gene-editing medicines for the third time in a matter of months, agreeing a partnership with CRISPR specialist Arbor Biotechnologies that could be worth up to $1.2

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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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Drug Discovery World

NOVEMBER 17, 2022

Andrew Roddam, CEO of Our Future Health, shares the impact research programmes such as this will have on drug discovery. . Our Future Health aims to tackle this and help people live healthier lives for longer by creating the UK’s largest ever health research programme to prevent, detect and treat diseases.? The challenge .

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The Pharma Data

AUGUST 9, 2021

“Pompe disease is a rare genetic disease that causes premature death and has a debilitating effect on people’s lives,” said Janet Maynard, M.D., deputy director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine in the FDA’s Center for Drug Evaluation and Research.

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