Rinaldi, Carlo
(2014)
FROM DISEASE GENE IDENTIFICATION TO THERAPEUTIC TARGETS
IN NEUROMUSCULAR DISEASES.
[Tesi di dottorato]
| Tipologia del documento: |
Tesi di dottorato
|
| Lingua: |
English |
| Titolo: |
FROM DISEASE GENE IDENTIFICATION TO THERAPEUTIC TARGETS
IN NEUROMUSCULAR DISEASES |
| Autori: |
| Autore | Email |
|---|
| Rinaldi, Carlo | rinaldi.ca@gmail.com |
|
| Data: |
27 Marzo 2014 |
| Numero di pagine: |
95 |
| Istituzione: |
Università degli Studi di Napoli Federico II |
| Dipartimento: |
Neuroscienze e Scienze Riproduttive ed Odontostomatologiche |
| Scuola di dottorato: |
Medicina molecolare |
| Dottorato: |
Neuroscienze |
| Ciclo di dottorato: |
26 |
| Coordinatore del Corso di dottorato: |
| nome | email |
|---|
| Annunziato, Lucio | farmacol@unina.it |
|
| Tutor: |
| nome | email |
|---|
| Giuseppe, De Michele | [non definito] |
|
| Data: |
27 Marzo 2014 |
| Numero di pagine: |
95 |
| Parole chiave: |
Neuromuscular diseases; Neurogenetics; Motor neuron disease; Kennedy's disease; Peripheral neuropathy |
| Settori scientifico-disciplinari del MIUR: |
Area 05 - Scienze biologiche > BIO/11 - Biologia molecolare
Area 06 - Scienze mediche > MED/26 - Neurologia |
[error in script]
[error in script]
| Depositato il: |
09 Apr 2014 08:23 |
| Ultima modifica: |
26 Gen 2015 14:32 |
| URI: |
http://www.fedoa.unina.it/id/eprint/9698 |
Abstract
Neuromuscular diseases include a wide range of acquired or inherited conditions mainly affecting the motor neurons in the spinal cord, peripheral motor nerves, and/or the muscles.
The overall estimated prevalence of the various inherited neuromuscular diseases (including the most common forms of muscular dystrophy, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies) among both sexes is approximately 1 in 3500 in the general population, according to a meta-analysis of over 150 published studies (Emery AE, 1991).
Although medical interventions have increased the life span and improved the quality of life for many of these diseases, at present there is still no cure for most neuromuscular diseases, and many familiar cases still remains with no genetic diagnosis.
The recent advances in genetics together with the widespread availability of whole genome and exome sequencing has effectively removed many obstacles in the process of disease gene identification, like the need of large pedigrees.
Disease gene identification allows to the development of cell culture and animal models for delineating disease mechanisms, and it facilitates the identification of targets for therapeutic intervention.
The overall purpose of my PhD research is to investigate the causes of hereditary neurological diseases, with the goal of developing effective treatments for these disorders. This purpose is pursued through two strategic aims: (1) To identify and characterize novel disease genes for hereditary neuromuscular and neurodegenerative disorders. (2) To develop and evaluate potential therapeutic agents for spinal and bulbar muscular atrophy (SBMA).
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