Name Ewout Groen
Department of Neurology and Neurosurgery
Section Neuromuscular Diseases
Function PhD student
E-mail:
e.j.n.groen-3@umcutrecht.nl Tel: +31 88 75 56506
Supervisor prof. dr. L.H. van den Berg
Title research The genetic background of Amyotrophic Lateral Sclerosis (ALS)
Summary research
Aim: - Further investigate the genetic background of ALS through proteomic and epigenetic approaches
- Increase understanding on the biological background of novel disease-associated genetic changes in ALS patients
Description: Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disorder. It is characterized by degeneration of motor neurons in brain and spinal cord, leading to muscle weakness. Disease course and severity of progression varies amongst patients, but in general 50% of the patients die within 3 years after disease onset, usually as a consequence of respiratory failure. Approximately 20% of ALS patients survive more then 5 years.
In ~10% of ALS patients, the disease occurs in families with autosomal dominant mode of inheritance. Sporadic ALS is considered a complex disease with modifying genes and environmental factors affecting its clinical expression. Several distinct molecular mechanisms may play a role in motor neuron degeneration.
Over the last couple of years increasing progress has been made in unraveling the genetic causes of sporadic ALS through genome-wide expression and association studies. This led to the discovery of several disease-associated SNPs, CNVs and differentially expressed genes. This research will be extended using novel genetic approaches such as proteomics and epigenetics. Also, the results of these genetic studies will be further investigated using more classical techniques such as the development of new animal models and histological and biochemical approaches.