pharmaphorum

JANUARY 18, 2023

And if participants have opted in to be made aware of their risks of genetic diseases, then communication has to be carefully considered. At the same time, the fraction of clinical trials that include genetic markers is increasing.

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Medical Xpress

FEBRUARY 10, 2023

Genetic diseases kill more infants than anyone realizes.

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Genetic Disease Genetics Research 66

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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Bio Pharma Dive

AUGUST 16, 2021

The FDA cleared Welireg, which Merck picked up in its $1 billion takeover of Peloton Therapeutics, to treat certain tumors associated with a rare genetic disease.

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Genetic Disease Genetics Drugs 334

The Pharma Data

DECEMBER 2, 2022

Lilly Completes Acquisition of Akouos Expanding Efforts to Help People with Genetic Diseases. Eli Lilly and Company (NYSE: LLY) announced the successful completion of its acquisition of Akouos, Inc. NASDAQ: AKUS).

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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

Pharmaceutical Technology

MAY 4, 2023

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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Medical Xpress

APRIL 12, 2023

Around 5,500 people with severe developmental disorders now know the genetic cause of their condition, thanks to a major nationwide study in the U.K. that will help improve diagnosis across the world.

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Bio Pharma Dive

MAY 27, 2021

Safety monitors cleared the company to test a higher dose after reviewing data from 10 patients, providing some hopeful news after recent setbacks for experimental drugs targeting the genetic disease.

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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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Genetic Disease Genetics Scientist Development 52

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.

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FDA Approval Gene Therapy Genetic Disease Gene 130

Medical Xpress

FEBRUARY 6, 2023

Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less susceptible to tuberculosis (TB).

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Genetics Genetic Disease Scientist 75

STAT News

DECEMBER 21, 2022

At a far distant point in Earth’s ancient past, two separate, single-celled life forms — an archaeon and a bacteria — became one in an act either of symbiosis or enslavement, depending on which microbiologist you ask.

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Medical Xpress

NOVEMBER 10, 2022

Using a protocol developed at UC San Francisco, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler, a case study in the New England Journal of Medicine reports.

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Genetics Genetic Disease Medicine Development 98

Pharmaceutical Technology

SEPTEMBER 30, 2022

Skysona is indicated as a one-time gene therapy to slow the progression of cerebral adrenoleukodystrophy (CALD), a rare paediatric neurodegenerative disease in boys aged 4–17 years diagnosed with early-stage CALD. These approvals represent crucial milestones for bluebird bio, the gene therapy field, and patients with rare genetic diseases.

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Gene Therapy FDA Approval Gene Genetic Disease 289

Pharmaceutical Technology

MAY 24, 2023

The BGTC aims to expedite the development, manufacture and delivery of customised or “bespoke” gene therapies to treat rare diseases, including some which are too rare to be of commercial interest. The collaboration creates a reusable standardised method that minimises upfront costs and helps to reduce development barriers.

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Gene Therapy Gene Genetic Disease Development 233

BioTech 365

JULY 13, 2021

Biotechnology, Pharma and Biopharma News – Research – Science – Lifescience ://Biotech-Biopharma-Pharma: Penn team uses CRISPR to edit out genetic disease before and after birth in mice.Penn team uses CRISPR to edit out genetic disease before and after birth … Continue reading →

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BioTech 365

DECEMBER 23, 2020

UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases UCSF and BridgeBio Pharma Collaborate to Accelerate the Development of Therapies for Genetic Diseases SAN FRANCISCO, Dec. 23, 2020 (GLOBE NEWSWIRE) — UC San Francisco (UCSF) … Continue reading →

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Genetic Disease Genetics Development 40

Medical Xpress

MAY 16, 2023

They study gene variation and mutations that cause rare genetic diseases. A mutation is a permanent change in the genetic material. 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.

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In-Vitro Genetic Disease In-Vivo Genetics 98

Medical Xpress

NOVEMBER 30, 2022

In any given cell at any given time, molecular processes are underway to seal cracks in the double helix or proofread the genetic code, all part of a perpetual upkeep program that maintains the body's status quo and staves off disease.

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Genetics Genetic Disease DNA Research 97

Medical Xpress

MARCH 6, 2023

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

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Genetic Disease Genetics Medicine Research 66

Medical Xpress

MARCH 15, 2023

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU), a congenital disease that—if not treated early—causes serious complications. Research demonstrating the efficacy of this test was published today in Clinical Chemistry.

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Genetic Disease Genetics Scientist Research 75

STAT News

APRIL 19, 2023

University of Michigan pediatric neurologist Vivian Cheung made a name for herself studying rare genetic diseases, and in 2008 — when she was on the faculty at the University of Pennsylvania — was hired as a Howard Hughes Medical Institute investigator, an honor for which she received $1 million a year over the next 12 years to further (..)

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Genetic Disease Scientist Genetics Research 136

Medical Xpress

MARCH 7, 2023

A simple vitamin could successfully treat a rare but potentially fatal genetic disease, according to research led by a Concordia undergraduate student.

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Genetics Genetic Disease Research 98

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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Pharmaceutical Technology

OCTOBER 25, 2022

Astellas chief strategy officer Naoki Okamura said: “Gene therapy is the cornerstone of Astellas’ Primary Focus, Genetic Regulation; our goal is to bring new transformative treatment options to patients living with serious genetic diseases and limited treatment options.

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Gene Therapy Gene Genetic Disease Development 264

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.” Continue to STAT+ to read the full story…

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BioTech 365

DECEMBER 3, 2020

RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and by Region – Global Forecasts 2020-2024 | Technavio RNAi Technology Market- by Application (Cancer, Infectious Diseases, Ophthalmic Diseases, Genetic Diseases, and Other Diseases) and … Continue reading (..)

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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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Genetics Genetic Disease Medicine Research 97

BioTech 365

NOVEMBER 4, 2020

Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease Programs at the Virtual 2020 ASH Annual Meeting Agios to Present Broad Set of Clinical and Translational Data for Oncology and Rare Genetic Disease … Continue reading →

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Genetic Disease Genetics 40

Pharmaceutical Technology

APRIL 6, 2023

GRIA disorder is a family of rare genetic diseases. The UCL team, which also includes Professor Stuart Cull-Candy, secured funding from the CureGRIN Foundation and will work with the RespireRx research team.

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Genetic Disease Genetics Gene Drugs 130

STAT News

MARCH 11, 2023

The Food and Drug Administration on Friday approved the first treatment for Rett syndrome, a genetic disease mostly affecting girls that causes severe neurologic impairments, robbing them of the ability to communicate or control muscle movement. The new drug, called Daybue, is made by Acadia Pharmaceuticals.

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Genetics FDA Approval Genetic Disease Clinical Trials 98

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

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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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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Genetics Genetic Disease Research Medicine 95

STAT News

MARCH 3, 2023

That technology, which enables scientists to easily excise, alter, or replace specific sections of DNA, was awarded the 2020 Nobel Prize for Chemistry.

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Genome Genomics Genetic Disease Gene Editing 111

pharmaphorum

OCTOBER 25, 2022

The Japanese firm has agreed to make a $50 million investment in Dallas-based Taysha in exchange for a 15% stake in the company, plus exclusive options to license two clinical-stage, single-gene therapies for rare genetic diseases. ” The post Astellas makes another gene therapy play, takes stake in Taysha appeared first on.

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Gene Therapy Gene Genetic Disease Genetics 104