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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.
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.
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. In the US, more than 30 million people live with a rare disease.
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.
CDKL5 deficiency disorder (CDD) is a rare genetic condition caused by mutations in the CDKL5 gene, which is essential for brain development and function. This magazine immerses you in a world where industry leaders, patient advocates and top researchers converge to provide the most insightful perspectives on clinical trials.
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.
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.
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.
“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.
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 data from the pivotal Phase III OASIS and OASISplus studies and three-year data from a Phase II open-label extension study show significant and clinically meaningful improvements in quality-of-life measures.
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.
“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.
“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.
Govorestat is a central nervous system (CNS)-penetrant aldose reductase inhibitor designed to target a critical problem in classic galactosemia — a rare genetic condition that prevents proper metabolism of the sugar galactose.
per 1,000 screened are identified with permanent hearing loss, with 50% to 60% of cases attributed to genetic factors. Safety assessments were reassuring; only transient vestibular effects mild dizziness and nausea were observed, resolving within six days. Each year, more than 6,000 US infants about 1.7
HAE is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema) in various parts of the body, including the skin, gastrointestinal tract and airways.
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