Clinical Research, Genetic Disease, Genetics and Research

Leveraging Genetic Testing for Enrolling Rare Disease Trials

Worldwide Clinical Trials

JANUARY 24, 2024

Written By: Derek Ansel, MS, CCRA, Executive Director, Therapeutic Strategy Lead, Rare Disease Given that 80% of rare diseases have a genetic etiology, genetic implications should be addressed at the onset of a clinical program to support trial enrollment.

Genetics

Genetics Trials Clinical Trials Clinical Trials

Why early participant engagement is now a top priority in genetic disease research

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. Why should research be any different? with their priorities.

Genetic Disease

Genetic Disease Genetics Research Genome

Abu Dhabi DoH signs new deal to accelerate development in life sciences

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

Life Science Genetic Disease Genome Genomics

New drug candidate slows the progression of adrenoleukodystrophy

Medical Xpress

JANUARY 20, 2023

The results are published in The Lancet Neurology.

Genetic Disease

Genetic Disease Genetics Clinical Research Drugs

Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio

XTalks

MAY 17, 2023

The diseases include a type of retinal degeneration caused by mutations to the NPHP5 gene; a neurological disorder called Charcot-Marie-Tooth disease type 4J that damages the peripheral nerves; and multiple sulfatase deficiency that affects the breakdown of sugars and fats.

Gene Therapy

Gene Therapy Clinical Trials Clinical Trials Gene

Agena Bioscience Granted EUA for High-Throughput, Low-Cost SARS-CoV-2 Panel

The Pharma Data

OCTOBER 27, 2020

Agena Bioscience develops, manufactures, and supplies genetic analysis systems and reagents, including the MassARRAY ® System. For more information about Agena, visit www.agenabio.com. View original content to download multimedia: [link]. SOURCE Agena Bioscience. Source link.

Genetic Analysis

Genetic Analysis Genome Genomics Reagent

Merck Receives Priority Review From FDA for New Drug Application for HIF-2? Inhibitor Belzutifan (MK-6482)

The Pharma Data

MARCH 16, 2021

“Von Hippel-Lindau disease is a rare genetic condition for which there is no systemic treatment option available and is associated with a high risk of cancer development in multiple organs. Research into VHL biology that led to the discovery of HIF-2? About Von Hippel-Lindau Disease and Renal Cell Carcinoma.

Drugs

Drugs Trials Genetics Protein

10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases

XTalks

APRIL 24, 2023

Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare genetic diseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.

Gene Therapy

Gene Therapy Gene Trials Clinical Trials

Advances in neuroscience drug discovery

Drug Discovery World

FEBRUARY 22, 2024

Recent advances in biomarkers, research into the central nervous system and breakthroughs in human iPSC cell models, have bolstered neuroscience drug discovery research. ARUK 3 adds that while the UK government increased funding in dementia research from £28.2m years it takes to complete an entire cancer clinical trial.

Drugs

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New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

The Pharma Data

OCTOBER 18, 2020

This study is the first to show that by increasing NAD + , NR helped protect telomeres which are important in addressing life-threatening telomere-related diseases, paving the way for future clinical research. The role of ChromaDex in this study was to provide NR through the ChromaDex External Research Program (CERP).

DNA

DNA Scientist Genetic Disease Research

Patient centricity and the changing pharmaceutical vista

pharmaphorum

JANUARY 27, 2023

Appropriate site selection [is] really important to engage with enthusiastic investigators that want to be involved in pioneering research and innovations.” million people in the UK that have a rare disease,” she continued, “and that’s where a lot of the innovation is, in more of these rare genetic diseases.

Clinical Trials

Clinical Trials Clinical Trials Trials Development

Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial

XTalks

SEPTEMBER 17, 2020

While the table lists acceptable surrogate endpoints for trials of more common conditions, such as asthma, type 2 diabetes and various cancer types, the document also provides key information to developers of certain rare disease therapies. Duchenne Muscular Dystrophy. Prevalence: 1 in 3,500. Lipodystrophy. Prevalence: 1 in 10 million.

Trials

Trials Gene Hormones Clinical Trials

Hypoxia-Inducible Factor-2 Alpha (HIF-2?) Inhibitor WELIREG™ (belzutifan) for the Treatment of Patients With Certain Types of Von Hippel-Lindau (VHL) Disease-Associated Tumors

The Pharma Data

AUGUST 15, 2021

“WELIREG is the first and only approved systemic therapy for patients with certain types of VHL-associated tumors, representing an important new treatment option for patients affected by this rare condition,” said Dr. Scot Ebbinghaus, vice president, clinical research, Merck Research Laboratories.

Hormones

Hormones Clinical Trials Clinical Trials Trials

Transitioning Between Academia and Industry: Advice from Leading Scientists That Made the Switch

XTalks

OCTOBER 1, 2020

WeiQi Lin, MD, PhD, executive vice president of research & development and principal scientist, DURECT Corporation. Lin has made several transitions throughout her career, from being a clinician at an academic center, to academic research, to heading business development in industry. Motivations for Transition.

Scientist

Scientist In-Vitro Research Life Science

Clinical Research Informer

Leveraging Genetic Testing for Enrolling Rare Disease Trials

Why early participant engagement is now a top priority in genetic disease research

Trending Sources

Abu Dhabi DoH signs new deal to accelerate development in life sciences

New drug candidate slows the progression of adrenoleukodystrophy

Bespoke Gene Therapy Consortium Selects 8 Rare Diseases for Clinical Trial Portfolio

Agena Bioscience Granted EUA for High-Throughput, Low-Cost SARS-CoV-2 Panel

Merck Receives Priority Review From FDA for New Drug Application for HIF-2? Inhibitor Belzutifan (MK-6482)

10 Key Learnings from Successful Cellular and Gene Therapy Trials for Rare Diseases

Advances in neuroscience drug discovery

New Study from NIH Finds Nicotinamide Riboside Helps Improve Telomere Dysfunction in Human Cells, Mice

Patient centricity and the changing pharmaceutical vista

Surrogate Endpoints: How to Choose the Best One for Your Rare Disease Trial

Hypoxia-Inducible Factor-2 Alpha (HIF-2?) Inhibitor WELIREG™ (belzutifan) for the Treatment of Patients With Certain Types of Von Hippel-Lindau (VHL) Disease-Associated Tumors

Transitioning Between Academia and Industry: Advice from Leading Scientists That Made the Switch

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