The protein abnormalities that precede cognitive decline in Alzheimer’s disease may be accelerated in people with Down syndrome.
Alzheimer’s disease has been found to start earlier and progress more quickly in people with Down syndrome, due in part to the presence of the APP gene. There are currently no treatments available in this area for these patients. Hence the need for new ways so that they can benefit from the most suitable treatments.
Down syndrome is caused by the presence of an extra 21 chromosome. This chromosome carries a copy of the APP (amyloid precursor protein) gene, meaning that the brains of people with Down syndrome produce much more amyloid deposits, which have been shown to be… + read more
Genetic mutation that prevents Alzheimer’s disease
A genetic variant has been described that reduces the likelihood of developing Alzheimer’s disease by up to 70%. + read more
New gene therapy that could stop the progression of ALS and frontotemporal dementia
A one-shot genetic drug has been developed that has been shown to stop the progression of ALS and frontotemporal dementia in mice. + read more
SEN Congress: Genetics in nephrology – present and future
Genetic testing is necessary in all cases of TMA and C3 glomerulopathy. The information you provide will be key to future forecasting and decision making. + read more
MIR without clinical genetics harms doctors and patients
Despite this shortcoming, some communities, with the exception of the Community of Madrid, are establishing clinical genetics systems. Although, it is true, the Main Directorate will have to grant admission to the specialty, as stated in the spring of 2023.
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Pericarditis genetics study provides data on newly approved drug
Research has discovered sequence variants that protect against pericarditis in a genomic locus that encodes the immune cytokine interleukin-1. + read more
Positive results with a new gene editing method in a model of macular degeneration
The first study in a model of established choroidal neovascularization reported a reduction in lesion size of almost 50%. + read more