During the past decade, Parkinson disease (PD) has evolved from a textbook example of a mostly nonhereditary disease to a complex disorder with ... of different forms of monogenic PD has revealed ...

For example, Wright et al. reported the case of a 4 years-old ... Even if only a single-allele mutation causing monogenic disorder is found, the clinicians should consider additional functional test ...

Monogenic causes of IS Monogenic disorders related with IS are uncommon, accounting for approximately 1% of all strokes. Examples are some hereditary cerebral amyloid angiopathies, connective ...

Operator Good day, and welcome to the Vertex Pharmaceuticals fourth quarter 2024 earnings call. All participants will be in a ...

The benefits of gene therapies is some are able to offer a one-time cure for a monogenic disorder ... As a practical example of the ways multiple stakeholders could work together, the EFPIA ...

These structural changes constitute a major source of inter-individual genetic variation that could explain variable penetrance of inherited (Mendelian and polygenic) diseases and variation in the ...

5 Studies are needed to examine, for example, carotid atherosclerosis by ultrasound or coronary calcification by CT scan in these two patient groups. However, if confirmed that the level of ...

Neurodegenerative Diseases (NDDs) are a group of disorders that cause progressive ... symptoms do not arise until the disease is at a more advanced stage. For example, in Parkinson’s disease (PD), a ...

For example, scientists believe that the HLA-DR7 gene may put ... 0215372 National Institute of diabetes and digestive and kidney diseases. Monogenic diabetes (neonatal diabetes mellitus & MODY). Kant ...