BioSpace

OCTOBER 6, 2022

This week, researchers presented findings in how ancestry affects cancer treatment, nanotechnology and genetic diseases. Here's a look at that and more.

Genetic Disease 71

Genetic Disease Genetics Research 71

Medical Xpress

APRIL 26, 2023

Usher Syndrome type 1F is a rare but severe genetic disease that causes deafness, lack of balance, and progressive blindness.

Genetic Disease 75

Genetic Disease Genetics Research 75

pharmaphorum

JANUARY 18, 2023

In 2016, scientists behind a study called the Resilience Project analysed genetic data from 589,000+ people and found 13 adults who carried genetic variants that should have resulted in serious – even deadly – childhood disease, but who were apparently healthy. Giving participants something in return.

Genetic Disease 96

Genetic Disease Genetics Research Genome 96

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.

Genetics 105

Genetics Genetic Disease 105

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.

Genetics 98

Genetics Genetic Disease Medicine Development 98

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).

Genetics 75

Genetics Genetic Disease Scientist 75

BioSpace

JULY 27, 2023

Despite beating analyst expectations, Takeda sustains a mid-stage defeat in a rare genetic disorder, leaving the fate of an investigational enzyme replacement therapy uncertain.

Genetics 75

Genetics Genetic Disease 75

BioSpace

APRIL 11, 2024

On the heels of withdrawing Relyvrio from the U.S. and Canadian markets, Amylyx is now charting a path in Wolfram syndrome with promising interim Phase II data for its lead asset AMX0035.

Genetic Disease 94

Genetic Disease Genetics Marketing 94

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.

Genetics 96

Genetics Genetic Disease DNA Research 96

BioPharma Reporter

OCTOBER 17, 2024

Wave Life Sciences reports that it has successfully carried out RNA editing in two patients with alpha-1 antitrypsin deficiency, the first time this kind of clinical RNA editing has been completed in humans according to the company.

RNA 52

RNA Genetic Disease Genetics Life Science 52

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.

Genetic Disease 69

Genetic Disease RNA Genetics Genomics 69

Medical Xpress

FEBRUARY 10, 2023

Genetic diseases kill more infants than anyone realizes.

Genetic Disease 64

Genetic Disease Genetics Research 64

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.

Genetics 97

Genetics Genetic Disease Medicine Development 97

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.

Genetic Disease 52

Genetic Disease Genetics Scientist Development 52

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.

Genetics 95

Genetics Genetic Disease Research Medicine 95

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.

Genetic Disease 328

Genetic Disease Genetics Drugs 328

Bio Pharma Dive

DECEMBER 15, 2023

Welireg, which Merck got through its purchase of Peloton Therapeutics, can now be used to treat an advanced form of kidney cancer, adding to an earlier clearance in a rare genetic disease.

Genetic Disease 183

Genetic Disease Genetics Drugs 183

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.

Genetics 95

Genetics Genetic Disease RNA Protein 95

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.

Genetics 98

Genetics Genetic Disease Research 98

Fierce Pharma

MAY 8, 2024

After Orchard Therapeutics’ gene therapy for a rare genetic disease was approved in March, Peter Marks, M.D., received a simple email from Commissioner Robert Califf, M.D. | After Orchard Therapeutics’ gene therapy for a rare genetic disease was approved in March, Peter Marks, M.D.,

Gene Therapy 128

Gene Therapy Gene Genetic Disease Genetics 128

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.

Gene Therapy 310

Gene Therapy Genetic Disease Gene Genetics 310

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.

Genetic Disease 128

Genetic Disease Bacteria Genetics Hormones 128

BioSpace

SEPTEMBER 25, 2023

The company’s olezarsen cleared a late-stage study, eliciting a sharp reduction in triglyceride levels in patients with familial chylomicronemia syndrome. Ionis plans to submit a New Drug Application to the FDA.

Genetic Disease 88

Genetic Disease Genetics Drugs 88

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 →

Genetic Disease 40

Genetic Disease Genetics Development 40

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 →

Genetic Disease 40

Genetic Disease Genetics Research 40

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.

Genetics 98

Genetics FDA Approval Genetic Disease Clinical Trials 98

Scienmag

JUNE 23, 2022

Human populations have waxed and waned over the millennia, with some cultures exploding and migrating to new areas or new continents, others dropping to such low numbers that their genetic diversity plummeted. In some small populations, inbreeding causes once rare genetic diseases to become common, despite their deleterious effects.

Genetics 77

Genetics Genetic Disease 77

BioSpace

JUNE 17, 2021

The FDA said that the drug, which has been studied and submitted for NPC indication, needs further data to support its use in this rare, progressive genetic disorder.

Genetic Disease 52

Genetic Disease Genetics Drugs 52

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

Genetics 70

Genetics Genetic Disease Development Bioinformatics 70

Fierce Pharma

MARCH 20, 2024

After scoring an FDA nod Monday for the first gene therapy to treat the rare genetic disease metachromatic leukodystrophy (MLD) in the U.S., Kyowa Kirin and its subsidiary Orchard Therapeutics have | After scoring an FDA nod Monday for the first gene therapy to treat the rare genetic disease metachromatic leukodystrophy in the U.S.,

Gene Therapy 110

Gene Therapy Gene Genetic Disease Genetics 110

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.

Genetic Disease 63

Genetic Disease Genetics Research Medicine 63

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 (..)

Genetic Disease 40

Genetic Disease Genetics Marketing 40

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 →

Genetic Disease 40

Genetic Disease Genetics 40

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.

Genetic Disease 75

Genetic Disease Genetics Scientist Development 75

BioSpace

OCTOBER 30, 2022

Platform technology company Replay, based in San Diego and London, has launched Eudora, a gene therapy company targeting genetic diseases of the retina.

Gene Therapy 54

Gene Therapy Genetics Gene Genetic Disease 54

Pharmaceutical Technology

JUNE 16, 2023

The Abu Dhabi Department of Health (DoH) in the UAE has made a declaration of collaboration with Mass General Brigham’s (MGB) International Center for Genetic Disease (iCGD) to advance life sciences.

Life Science 130

Life Science Genetic Disease Genomics Genome 130

Fierce Pharma

JANUARY 10, 2024

In his first presentation as the new CEO of BioMarin, Alexander Hardy left no doubt about his mission for the rare and genetic disease specialist. | In his first presentation as the new CEO of BioMarin, Alexander Hardy left no doubt about his mission for the rare and genetic disease specialist.

Genetic Disease 97

Genetic Disease Genetics Drugs 97