rare-disease Downloads
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Next-generation sequencing (NGS) of the human exome has the potential to identify pathogenic variants responsible for complex phenotypes associated with rare diseases. ...
Twist Exome 2.0 is designed to detect rare and inherited diseases, as well as germline cancers. This panel’s high uniformity and low off-target rate deliver best-in-class sequencing efficiency, enabling quality data to be collected with less sequencing. With superior coverage of major genetic databases (RefSeq, CCDS, GenCode, Clinvar, ACMG73 and more) and the addition of clinically relevant ...
α-Galactosidase (also known as α-GAL or α-GAL A) is an enzyme that catalyzes the hydrolysis of the terminal α-galactosyl moieties of oligosaccharides and polysaccharides. Defects in human α-GAL result in Fabry disease, a rare lysosomal storage disorder belonging to sphingolipidoses that results from a failure to catabolize α-D-galactosyl glycolipid moieties. ...
Most rare and inherited diseases have a neurological component, likely because more than 80% of human genes are expressed in the brain.1 Neurological disorders are multifactorial and heterogeneous, meaning that their genetic basis is often poorly understood. Indeed, only 30-50% of neurological disorders have a molecular genetic diagnosis.2 ...
Next-generation sequencing (NGS) has the potential to revolutionize the diagnosis and treatment of cancers and rare diseases but creates extremely large, complex, and noisy datasets for analysis. Without the right analytical technology, pinpointing causative variants and obtaining actionable insights from NGS data requires specialist skills, multiple resources, and considerable time. The ...
People with rare diseases often wait years to receive a proper diagnosis and many never receive one at all. RARE ANSWERS™ is a system of innovative and sustainable tools designed to help shorten the diagnostic journey and time to initiating treatment of children with a rare disease. Developed in collaboration with leading children’s hospitals and technology and data-science ...
ICON's cardiovascular trial experience, supported by a global team of experts. ICON has extensive experience in cardiovascular clinical research trials across the entire drug development spectrum. There is still significant unmet need within select cardiovascular/metabolic (CVM) disorders. Unfortunately, the cost of developing drugs and devices in this area has been rising steadily. ICON, a full ...
ByICON plc
Novel funding mechanisms and collaborations are required to finance R&D, especially for the treatment of diseases that are unlikely to produce commercial returns.A new approach to drug developmentThe Novartis R&D strategy actively targets rare diseases where the market may appear small but where there is a real unmet medical need and clear ...