pharmaphorum

SEPTEMBER 20, 2023

DeepMind applies its AI expertise to genetic diseases Phil.Taylor Wed, 20/09/2023 - 07:55 Bookmark this

Genetic Disease 105

Genetic Disease Genetics 105

Bio Pharma Dive

FEBRUARY 24, 2025

Mirum gained the drug, which it will sell as Ctexli for adults with cerebrotendinous xanthomatosis, in a 2023 deal with Travere Therapeutics.

Genetic Disease 144

Genetic Disease FDA Approval Genetics Drugs 144

XTalks

DECEMBER 18, 2024

CAH is a group of rare genetic disorders affecting the adrenal glands, which produce essential hormones like cortisol, aldosterone and androgens. The most common form of CAH, 21-hydroxylase deficiency, disrupts hormone production, leading to cortisol deficiency and an overproduction of androgens.

Genetics 116

Genetics Hormones Trials Drugs 116

Medical Xpress

JANUARY 24, 2025

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the use of personalized antisense oligonucleotides (ASOs).

Genetic Disease 89

Genetic Disease Genetics 89

Fierce Pharma

DECEMBER 16, 2024

After seven decades with no advances in the treatment of the genetic disorder classic congenital adrenal hyperplasia (CAH), Neurocrine Biosciences has

Genetics 104

Genetics Genetic Disease 104

Medical Xpress

FEBRUARY 24, 2023

A team of researchers at the University of Georgia has identified the source of several symptoms in patients suffering from familial dysautonomia (FD), a rare and debilitating genetic disease that primarily affects children.

Genetic Disease 75

Genetic Disease Genetics Research 75

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

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 105

Genetics Genetic Disease Medicine Development 105

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 190

Genetic Disease Genetics Drugs 190

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 75

Genetic Disease RNA Genetics Genome 75

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

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 98

Genetics Genetic Disease RNA Protein 98

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 70

Genetic Disease Genetics Research 70

XTalks

JANUARY 6, 2025

CF is a progressive genetic disease caused by defective CFTR proteins, which are crucial for regulating salt and water movement in cells. Vertex remains committed to advancing CF research, with plans to expand the impact of their CFTR modulators and explore new genetic mutations.

Gene Therapy 105

Gene Therapy Protein Genetic Disease Gene 105

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 98

Genetics Genetic Disease Research Medicine 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.

Genetics 97

Genetics Genetic Disease DNA Research 97

Pharmaceutical Technology

OCTOBER 25, 2022

There are options in the future to possibly apply the worldwide research and development (R&D), manufacturing and marketing expertise of Astellas in gene therapy to AAV gene therapy development programmes of Taysha for genetic ailments of the central nervous system (CNS).

Gene Therapy 264

Gene Therapy Gene Development Genetics 264

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 64

Genetic Disease Genetics Scientist Development 64

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 98

Genetics Genetic Disease 98

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 117

Genetic Disease Bacteria Genetics Hormones 117

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

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 130

Gene Therapy Gene Genetic Disease Genetics 130

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 128

Gene Therapy Gene Genetic Disease Genetics 128

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 75

Genetics Genetic Disease Development Bioinformatics 75

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

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 92

Genetic Disease Genetics Marketing 92

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 74

Genetics Genetic Disease 74

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.

In-Vitro 246

In-Vitro Genetic Disease Medicine Genetics 246

XTalks

DECEMBER 4, 2024

CAMP4’s RNA-based therapies focus on genetic diseases like urea cycle disorders, while Rapport’s small molecules aim to address epilepsy, pain and bipolar disorder. Jupiter joins a wave of biotech IPOs this year, stepping into a competitive space while broadening treatment options for CNS patients.

Bioavailability 111

Bioavailability Genetic Disease Marketing RNA 111

Pharma Times

AUGUST 16, 2021

VHL is a rare genetic disease which puts patients at risk of developing benign blood vessel tumours and several cancers

Genetic Disease 123

Genetic Disease Genetics Development 123

STAT News

JUNE 9, 2025

  The FDA’s willingness to consider an early approval for the Avidity drug should further assuage concerns from the biotech industry and investors about the agency’s stance on rare disease therapies in the face of staffing cuts and new leadership. 

Genetic Disease 61

Genetic Disease Drugs Genetics Protein 61

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.

Development 130

Development Genetic Disease Genetics Gene Therapy 130

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 Genome Genomics 130

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 87

Genetic Disease Genetics Drugs 87

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 109

Genetic Disease Genetics Drugs 109

Pharmaceutical Technology

MAY 24, 2023

Streamlining the regulatory process, the AMP BGTC will also facilitate cost-efficient vector production to increase access for patients with rare and ultra-rare genetic diseases. The collaboration creates a reusable standardised method that minimises upfront costs and helps to reduce development barriers.

Gene Therapy 242

Gene Therapy Gene Development Manufacturing 242