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.

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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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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.

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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.

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Genetic Disease Genetics Research 75

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.

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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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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

FEBRUARY 10, 2023

Genetic diseases kill more infants than anyone realizes.

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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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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.,

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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.

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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.,

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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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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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Worldwide Clinical Trials

JANUARY 24, 2024

Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare Disease Clinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. Newborn Sequencing is a research initiative that allows for a baby’s full genome to be sequenced at birth, diagnosing their genetic diseases.

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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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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

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 98

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.

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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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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

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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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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.

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Genetic Disease Genetics Drugs 88

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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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

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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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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.

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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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pharmaphorum

APRIL 30, 2024

Prime Medicine has been given the go-ahead by the FDA for the first human trial of its prime editing technology, which promises to deliver one-shot therapies for a range of severe genetic diseases.

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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.

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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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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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Pharma Mirror

APRIL 21, 2024

This represents an increasingly promising field of precision medicine, holding significant prospects for preventing and treating numerous challenging or genetic diseases. Scientists have been striving to optimize mRNA stability, immunogenicity, translation efficiency, and delivery systems to achieve efficient and safe mRNA delivery.

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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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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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Pharma Mirror

JANUARY 2, 2024

When someone seeks information about paternity or genetic diseases without visiting a doctor’s chamber or laboratory, the best alternative is the at-home DNA test kit. The popularity of at-home DNA testing is soaring in popularity and uses. The question which concerns everyone is, ‘are home DNA test kits accurate?’.

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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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