Parkinson’s researchers awarded 2011 Zülch Prize

Scientists honoured for research on neurological disease

After Alzheimer’s, Parkinson’s is the most common neurodegenerative disease. The Gertrud Reemtsma Foundation is set to honour two scientists who have discovered important causes of genetically inherited forms of Parkinson’s disease with the K. J. Zülch Prize. Thomas Gasser from the University of Tübingen and Robert L. Nussbaum from the University of San Francisco identified genes responsible for the inherited forms of Parkinson’s disease. Moreover, they decoded the genetic basis of other inherited neurological diseases. These advances will also facilitate the research of non-inherited forms of the diseases. The 2011 K. J. Zülch Prize will be presented on September 9 in Cologne.

Robert L. Nussbaum and Thomas Gasser are among the leading experts in the genetic causes of Parkinson’s disease and other neurological disorders. In some cases these diseases are caused by mutations of individual or several genes. Thus, a single defective copy of a gene can trigger the development of a neurological disease. The carriers of these mutations can pass the disease on to their offspring. Families therefore exist in which many members succumb to the disease in question.

Thomas Gasser studied the genetic makeup of such families and discovered different genes that can lead to the development of Parkinson’s disease and other mobility disorders, such as Myoklonus-Dystonia syndrome. For example, he identified the LRRK2 gene as the trigger of the most common inherited form of Parkinson’s disease so far.

Furthermore, his work has shown that genetic factors are also important for the sporadic form of Parkinson’s disease. These mutations are relatively prevalent in the general population, but every single one of them increases the risk for Parkinson only very little. However, in combination with each other and possibly with other environmental factors they develop their detrimental effects. These findings are the basis for developing treatments of Parkinson’s disease itself instead of merely easing its symptoms.

Gasser, who was born in Stuttgart in 1958, specialised in the genetics of neurological disorders at an early stage in his career. Following a research period in Boston, he worked at the university hospital of the LMU Munich for several years. He has been a Director of the Department of Neurology with focus on neurodegenerative diseases of the Hertie Institute for Clinical Brain Research and the University Hospital Tübingen since 2003.

Robert L. Nussbaum researches the genetic causes of Parkinson’s disease and Lowe syndrome. He was the first scientist to identify alpha-synuclein in 1997 as a gene in which mutations cause its carriers to develop Parkinson’s disease. This discovery paved the way for the research on other genetic causes of neurological disorders. It also emerged from the research that mutations of the alpha-synuclein gene can not only cause a rare inherited form of Parkinson’s, but that normal alpha-synuclein is also a central feature of all forms of the disease. Robert L. Nussbaum has recently shown that the vegetative nervous system in transgenic mice with a mutated form of the gene undergoes pathological changes before such changes arise in the brain, similar to what occurs in human Parkinson’s disease. His research has contributed significantly to a paradigm shift in how we think about Parkinson’s disease, from a “brain only” to a systemic disease.

The second focus of the research carried out by the 60-year-old doctor, who previously worked at the National Institutes of Health outside Washington, D.C.,  and at the University of Pennsylvania, is Lowe syndrome. This rare genetic condition is inherited via the X sex chromosome, and causes intellectual disability, seizures, cataracts and kidney damage. Most sufferers die at a young age. In the early 1990s, Robert L. Nussbaum identified the OCRL1 gene as the cause of this disease. The gene product, an enzyme involved in the metabolism of phospholipids, is active in the Golgi apparatus, the cell’s sorting and transport organelle, and at the cell surface. This enzyme plays a role in the transport of certain proteins from inside the cell to the cell surface, and back again. Its precise function and the reason why its function loss damages so many of the body’s organs remain unclear. Robert L. Nussbaum’s team developed test systems with which the disease can be diagnosed in the foetus and was the first laboratory to offer genetic testing and counselling to affected families.

The presentation of the Zülch Prize will take place at 10 am in the Hansasaal of the Historic Town Hall in Cologne on September 9, 2011. The laudation for Thomas Gasser will be delivered by Mathias Bähr of the Georg-August-University Göttingen and for Robert L. Nussbaum by Christine Klein, University of Lübeck. The award winners will report on their scientific work after the laudations.