This site uses cookies to improve your experience. To help us insure we adhere to various privacy regulations, please select your country/region of residence. If you do not select a country, we will assume you are from the United States. Select your Cookie Settings or view our Privacy Policy and Terms of Use.
Cookie Settings
Cookies and similar technologies are used on this website for proper function of the website, for tracking performance analytics and for marketing purposes. We and some of our third-party providers may use cookie data for various purposes. Please review the cookie settings below and choose your preference.
Used for the proper function of the website
Used for monitoring website traffic and interactions
Cookie Settings
Cookies and similar technologies are used on this website for proper function of the website, for tracking performance analytics and for marketing purposes. We and some of our third-party providers may use cookie data for various purposes. Please review the cookie settings below and choose your preference.
Strictly Necessary: Used for the proper function of the website
Performance/Analytics: Used for monitoring website traffic and interactions
We are witnessing a revolution in healthcare, driven by advances in genetics, Omics, RNA and CRISPR gene-editing technology, to deliver precision and personalised medicine, said Kiran Mazumdar-Shaw, executive chairperson, Biocon and Biocon Biologics. This holds the potential to cure geneticdiseases that have plagued families for generations.
Much of what we discuss I covered in my presentation, “Leveraging Genetics to Support Rare DiseaseClinical Trials,” at last year’s World Orphan Drug Congress (WODC) EU. In my capstone, I focused on how, if, and when genetic counselors discuss clinical trials with their patients in the context of a counseling session.
By designing research with participants involved from the start, and with autonomy as a core principle, we can escape from the often binary and paternalistic views that dominate. And if participants have opted in to be made aware of their risks of geneticdiseases, then communication has to be carefully considered.
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 GeneticDisease (iCGD) to advance life sciences.
Related: Gene Therapy Clinical Trials for Rare Diseases: 5 Key Takeaways from FDA’s Recent Town Hall “The BGTC offers promise for rare disease patients around the world,” said Julie Gerberding, MD, CEO of the FNIH, in the press release from the agency.
Carlsbad, California-based Ionis Pharmaceuticals announced it will be sharing promising new trial data for its RNA-targeted prophylactic treatment donidalorsen for hereditary angioedema (HAE) at the 2025 American Academy of Allergy, Asthma & Immunology (AAAAI)/World Allergy Organization (WAO) Joint Congress in San Diego, California.
The system is a highly sensitive, cost-effective, mass spectrometry-based platform for high-throughput genetic analysis and is used globally in diverse research fields such as cancer profiling for solid tumors and liquid biopsies, inherited geneticdisease testing, pharmacogenetics, agricultural genomics, and clinicalresearch.
Rare diseases can often be progressive, chronic and fatal. Approximately 72 percent of rare diseases are genetic, and around 70 percent of rare geneticdiseases emerge in childhood. Sadly, one-third of children with rare diseases die before their first birthday.
“I think that there’s an opportunity in the UK for us to really embed them, and that’s looking at embedding clinicalresearch into healthcare. 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 geneticdiseases.
“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.
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 clinicalresearch. Telomeres are “caps” at the end of chromosomes that protect DNA from getting worn away as cells replicate.
XTALKS CLINICAL EDGE: Issue 3 — Interview with Marinus Pharmaceuticals’ Dr. Flatt Xtalks Clinical Edge is a magazine for clinicalresearch professionals and all who want to be informed about the latest trends and happenings in clinical trials.
“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, clinicalresearch, Merck Research Laboratories.
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.
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. Working on finding therapies for geneticdiseases at NeuBase, Dr. Sooter says, “Everyday, we get up and that’s our goal and it really drives everyone.
The US Food and Drug Administration (FDA) has rejected the New Drug Application (NDA) for govorestat (AT-007), an investigational treatment for classic galactosemia, citing deficiencies in its clinical application. This decision, communicated through a Complete Response Letter, means the drug cannot currently proceed to market.
Regenerons CHORD study evaluating investigational gene therapy DB-OTO for otoferlin-related hearing loss a rare condition caused by variants in the OTOF gene has revealed that 10 of 11 children with at least one post-treatment hearing assessment experienced notable improvements, including dramatic gains in speech perception.
The findings shed light on patient adherence to long-term prophylaxis (LTP) treatments for hereditary angioedema (HAE) and highlight sebetralstats efficacy as an on-demand therapy.
We organize all of the trending information in your field so you don't have to. Join 21,000+ users and stay up to date on the latest articles your peers are reading.
You know about us, now we want to get to know you!
Let's personalize your content
Let's get even more personalized
We recognize your account from another site in our network, please click 'Send Email' below to continue with verifying your account and setting a password.
189 
Let's personalize your content