Scienmag

MARCH 30, 2021

Credit: Gretel Nicholson, EXRC Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.

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Medical Xpress

MARCH 6, 2023

This has been shown in a recent study by Martin Luther University Halle-Wittenberg (MLU), University Medicine Halle and University of Leipzig Medical Center. The movement disorder ADCY5-related dyskinesia can be treated with the asthma drug theophylline.

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Pharmaceutical Technology

MAY 4, 2023

The medicine is currently available for use in more than 30 countries. CF is a rare, life-shortening genetic disease that is estimated to impact over 88,000 people across the globe. The progressive multi-organ disease affects the patients’ lungs, liver, pancreas, GI tract, sinuses, sweat glands and reproductive tract.

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Scienmag

JULY 1, 2022

Curing debilitating genetic diseases is one of the great challenges of modern medicine. During the past decade, development of CRISPR technologies and advancements in genetics research brought new hope for patients and their families, although the safety of these new methods is still of significant concern.

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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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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 new deal excludes oncology and other therapeutic areas outside the scope of genetic disease.

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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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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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STAT News

MARCH 1, 2023

Tessera Therapeutics chief scientist Michael Holmes had just finished presenting a much-anticipated peek at a technology the company had previously said could “ revolutionize genetic medicine ” and “cure nearly any genetic disease.”

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STAT News

FEBRUARY 3, 2023

The Boston drugmaker’s medicines for the genetic disease — which damages the lungs and other organs — have transformed the lives of patients, helping them abandon other time-consuming treatments, shrug off what would have been dangerous respiratory infections, and just live breathing easier.

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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. HS: Absolutely.

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Scienmag

JUNE 16, 2021

million grant from The National Institutes of Health to develop methods that will improve genetic risk estimates – polygenic risk scores – for specific diseases in people from diverse populations and mixed ancestries. LOS ANGELES (June 16, 2021) – UCLA Health will receive a $4.8

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Scienmag

APRIL 22, 2022

While cancer is a genetic disease, the genetic component is just one piece of the puzzle — and researchers need to consider environmental and metabolic factors as well, according to a research review by a leading expert at the University of Alberta.

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Pharmaceutical Technology

MAY 22, 2023

It is claimed to be both the first re-dosable gene therapy and the first and only FDA-approved treatment for both recessive and dominant types of DEB, a rare and serious genetic disease affecting the skin and mucosal tissues. The regulatory approval was supported by data from the GEM-1/2 and GEM-3 clinical trials.

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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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Scienmag

MAY 2, 2022

WINSTON-SALEM, NC – May 2, 2022 — Wake Forest Institute for Regenerative Medicine (WFIRM) scientists working on CRISPR/Cas9-mediated gene editing technology have developed a method to increase efficiency of editing while minimizing DNA deletion sizes, a key step toward developing gene editing therapies to treat genetic diseases.

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Drug Discovery World

JUNE 22, 2023

She emphasises the need to ensure a balance between shortening commercial CLD timelines, increasing efficiencies and maintaining product quality. In the second article, Michael Henderson, MD, Chief Business Officer of BridgeBio Pharma, tells Lu Rahman about the company’s pursuit of transformative medicines to treat genetic diseases.

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Pharmaceutical Technology

MAY 24, 2023

Forge Biologics has joined the public-private collaboration, the Bespoke Gene Therapy Consortium (BGTC), to expedite the development and manufacture of new AAV [adeno-associated virus] gene therapies to treat patients with rare diseases.

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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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Delveinsight

AUGUST 17, 2021

Food and Drug Administration gave a red flag to FibroGen’s anemia pill roxadustat, for the use in patients suffering from kidney diseases owing to safety concerns that arose after results, which in turn are concluded for the presentation of further clinical studies to assess safety for future medicinal use.

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Scienmag

SEPTEMBER 9, 2020

Researchers at the University of Cambridge and the University of Zurich have discovered that a drug newly approved for cancer improves kidney dysfunction in a mouse model of Dent disease 2 and Lowe syndrome The study is published today in Kidney International and offers hope for the first disease-modifying treatment.

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Drug Discovery World

JUNE 22, 2023

She emphasises the need to ensure a balance between shortening commercial CLD timelines, increasing efficiencies and maintaining product quality. In the second article, Michael Henderson, MD, Chief Business Officer of BridgeBio Pharma, tells Lu Rahman about the company’s pursuit of transformative medicines to treat genetic diseases.

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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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XTalks

MARCH 21, 2024

MLD is a rare genetic disease affecting the brain and nervous system caused by a deficiency of the enzyme arylsulfatase A (ARSA), which results in the accumulation of sulfatides (fatty substances) in cells. The transaction has proven fruitful with the milestone US approval of the gene therapy just a few months later.

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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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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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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

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

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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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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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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Scienmag

JULY 13, 2021

In proof-of-concept study, CHOP researchers used an AAV9 vector to edit a single base mutation, halting progression of a disease that causes irreversible damage before birth Philadelphia, July 13, 2021–Adding to the growing body of literature demonstrating the feasibility of correcting lethal genetic diseases before birth, researchers at Children’s (..)

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XTalks

MAY 26, 2023

The regulatory nod “ushers in a whole new paradigm to treat genetic diseases” and is a major milestone for DEB patients and their families, Krystal Biotech CEO Krish Krishnan said in a statement from the company. Results of the trials are published in the journals Nature Medicine and The New England Journal of Medicine.

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pharmaphorum

JULY 20, 2022

CAMP4 reckons antisense oligonucleotide (ASO) therapeutics targeting these regRNA sequences have the potential to dial up the production of proteins from any disease-associated gene, treating genetic diseases “at their core.”

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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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Roots Analysis

FEBRUARY 26, 2024

Literary and archaeological evidences suggest that diseases have plagued living organisms since the beginning of time. 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.

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Drug Discovery World

NOVEMBER 7, 2022

In 2018, the UK’s department of health announced an NHS Genomic Medicine Service, which allows patients with rare diseases to have their entire genetic code read in the hope of providing a much-needed diagnosis. Consequently, the UK has established itself at the forefront of diagnostic whole genome sequencing.

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