New study reveals the need for earlier access to palliative care in prion diseases
Un reciente estudio publicado en la revista Neurology (pueden acceder artículo original aquí) analiza cómo se utilizan los recursos de los cuidados paliativos en pacientes con enfermedades priónicas, como la enfermedad de Creutzfeldt-Jakob, basándose en la experiencia de varias clínicas de EE. UU. Las enfermedades priónicas son dolencias raras, rápidas y devastadoras, para las que […]
Promising advances in gene therapy for Huntington's disease
Autor: Josu Galarza La enfermedad de Huntington es un trastorno neurodegenerativo clasificado como enfermedad rara, con una incidencia de entre 5 y 10 casos por cada 100.000 habitantes. De carácter hereditario, sus principales manifestaciones clínicas son los movimientos involuntarios, así como alteraciones cognitivas y psiquiátricas. La presencia de agregados proteicos tóxicos en el cerebro, junto […]
A new therapeutic strategy against prion diseases shows promising results in animal studies.
Autores: Hasier Eraña Un reciente estudio científico, desarrollado por la compañía Sangamo Therapeutics, explora una innovadora terapia génica que ha demostrado ser capaz de retrasar significativamente la progresión de la enfermedad priónica en ratones y de alcanzar todo el cerebro en primates. ¿En qué consiste esta nueva terapia? Las enfermedades priónicas, como la enfermedad de […]
A new breakthrough in detecting diseases such as Parkinson's using a simple skin or nasal mucosa sample
Autores: Tomás Barrio y Alvina Huor Un estudio reciente abre la puerta a diagnósticos más rápidos, accesibles y precisos de enfermedades neurodegenerativas como la enfermedad de Parkinson, la demencia con cuerpos de Lewy y la atrofia multisistémica. Diagnosticar con certeza enfermedades como la enfermedad de Parkinson o la demencia con cuerpos de Lewy sigue siendo […]
We have an IND (Investigational New Drug) open, what's next? A new article on the CureFFI blog by Eric Minikel
Author: Hasier Eraña From the laboratory of Sonia Vallabh and Eric Minikel, at the Broad Institute in Boston, comes news that Eric himself reports on his blog (cureffi.org). On 14 April, these researchers achieved a rare milestone in academic research (that which is done outside of the industry), which is a very rare achievement in [...]
Absence of transmission of chronic wasting disease (CWD) prions to human brain organoids
Author: Enric Vidal One of the many unanswered questions in the field of animal prion diseases is whether or not the prions that cause Chronic wasting disease (CWD) are capable of infecting humans. After the jump from [...]
Towards early detection: Positive RT-QuICR is associated with slower disease progression
Author: Maitena San Juan Creutzfeldt-Jakob neurodegenerative disease (CJD) is a prion disorder caused by the misfolded form of the cellular prion protein (PrPC), also known as PrPSc. Its most common variant is the sporadic form (sCJD), which accounts for approximately 90% of the cases of prion disease diagnosed in humans and is of [...]
Mood disturbances could be an early sign of Creutzfeldt-Jakob disease
Author: Eva Fernández-Muñoz Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive neurodegenerative disorder caused by the misfolding of the cellular prion protein (PrPC) into a misfolded form called PrPSc, which accumulates in the brain, causing neuronal damage and spongiform degeneration. The sporadic form (sCJD) is the most common form, accounting for approximately [...]
The Spanish Foundation for Prion Diseases submits its application to the Ministry of Health for the inclusion of prion diseases in the ELA Act.
Author: Joaquín Castilla An essential step in the defence of the rights of patients and their families In an effort to guarantee the recognition and protection of the rights of people affected by prion diseases, the Spanish Foundation for Prion Diseases has exercised its right to participate in the Prior Public Consultation [...]
New strategies to understand and combat sporadic Creutzfeldt-Jakob disease through integration of genetic data
Author: Nuno Anjo Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, fatal and rapidly progressive neurodegenerative disease for which there are still no effective treatments. It is characterised by the misfolding of the normal prion protein (PrPC) into an abnormal form called PrPSc or Prion, which accumulates in the brain, causing neuronal damage [...].
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