Hereditary Disease Articles & Analysis
7 news found
TMAs, such as aHUS, are rare diseases primarily affecting the kidney. They are hard to diagnose using traditional methods as they present as a number of nonspecific symptoms, such as severe hypertension, acute kidney injury/failure in the context of mechanical anemia and thrombocytopenia. ...
He is tasked with driving SeqOne’s R&D strategy notably in the area of rare diseases and oncology through the use of machine learning and data science. ...
We were impressed by SeqOne’s ability to support the full range of genomic analysis requirements, from simple analyses of small gene panels to the entire genome in both cancer and inherited diseases. This means that we can offer a complete solution that addresses our customers’ ...
About CENTOGENE CENTOGENE engages in diagnosis and research around rare diseases transforming real-world clinical, genetic, and multiomic data to diagnose, understand, and treat rare diseases. Our goal is to bring rationality to treatment decisions and to accelerate the development of new orphan drugs by using our extensive rare disease ...
The round, led by Omnes, Merieux Equity Partners, together with the Software Club and existing investors, Elaia and IRDI Capital Investissement, will enable SeqOne Genomics to accelerate its international sales and the development of new collaborative genomic analysis tools to facilitate communications between different disciplines in the medical team, in order to improve patient outcomes in ...
About SeqOne Genomics A company focused on developing state-of-the-art genomic analysis tools for clinical applications in the field of rare and hereditary diseases and oncology. About Global Diagnostic Solution Ltd. ...
Inherited genetic variants can predispose an individual to cancer. Hereditary Breast and Ovarian Cancer (HBOC) Syndrome, for example, is caused by pathogenic mutations in distinct genes such as BRCA1/2, MLH1, MSH6, PMS2, respectively. ...