Introduction to ALS pathology

4 Dezembro 2024, 10:00 • Margarida Henriques da Gama Carvalho

Motor neuron diseases as a form of neurodegeneration with shared pathways with cortical neurodegeneration

Amyotrophic Lateral Sclerosis (ALS):  symptoms, presentation, genetics, and causal genes

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Revisions on Genetics in ND

27 Novembro 2024, 12:00 • Margarida Henriques da Gama Carvalho

Discussion of case-studies of familial disease

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Spinal Muscular Atrophy

27 Novembro 2024, 10:00 • Margarida Henriques da Gama Carvalho

Spinal Muscular Atrophy: clinical and genetic characteristics.

Molecular mechanisms underlying SMA phenotype and modifier genes.

Impact of understanding disease genetics in therapy development.

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Genetics in ND

20 Novembro 2024, 12:00 • Margarida Henriques da Gama Carvalho

Brainstorm: Correlation and Causation in Science – how do we prove an observed event is causal?

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Genetics in ND

20 Novembro 2024, 10:00 • Margarida Henriques da Gama Carvalho

Reviewing the principles of genetics: from genotype to phenotype. Monogenic and Polygenic traits in humans.

Defining disease and the genetic basis of disease in the post-genomic era.

Familial vs sporadic cases; germinal vs somatic mutations

Types and mechanisms of mutation. Aging and DNA damage. Transposons.

Gain and loss of function and connection to hereditary transmission patterns.

Somatic mutations in neurodegeneration.

Non-mendelian heredity and role of epigenetics.

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