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Hereditary Spastic Paraplegia: Just one step | www.eurordis.org

Hereditary Spastic Paraplegia: Just one step | www.eurordis.org

Eurordis, Rare Diseases Europe

Hereditary Spastic Paraplegia: Just one step

Advancing research: Just one small step can make a big difference
Tom & Henry WahligDr. Tom Wahlig set up the Tom Wahlig Foundation for Hereditary Spastic Paraplegia in 1998. His motivation for this was his son, Henry, being diagnosed with the condition at a very young age. The objectives of the organisation are to give information and support to people living with HSP through developing research, funding projects and promoting a worldwide network of researchers. The foundation is designed to encourage research rather than form a society of patient members. “I set up the foundation in order to achieve more publicity for HSP. We try to be the first partner of the sufferer, to protect them against an odyssey of false diagnosis. We reassure them that all over the world researchers are hunting to find the reason for the disease,” states Dr. Wahlig.
HSP, three letters that for some can mean life as a wheelchair user, is an inherited genetic disorder where a reduced level of signals along the spinal cord results in progressive stiffness (spasticity) and weakness, even paralysis, of the lower limbs. Severity varies from patient to patient. Bladder problems and fatigue are often associated with the condition. There is an estimated 30,000 people affected with HSP in Europe: exact numbers are impossible as misdiagnosis is frequent. 
HSP patientFor Dr. Wahlig and his fellow board members, Prof. Dr. Cornelius Weiller and Prof. Dr. Thomas Deufel, research is the primary focus. Since 1998 they have supported or continue to support 24 projects, details of which can be found on their website www.hsp-info.de.
In 2010 Dr. Wahlig nominated a young biologist, Christian Beetz, to the EURORDIS Research Hall of Fame. EURORDIS invited patient groups to nominate a scientist who has helped advance research into their disease. This gives recognition to scientists working in the field of rare diseases and encourages a sense of a research community. Dr. Beetz joined Prof Deufel’s team of researchers at the University of Jena where his first step into HSP research led to great success. The foundation’s contribution to Dr. Beetz’s research was 30.000€ toward staff and equipment costs.
In 2008, in honour of its 10th anniversary, the foundation announced the Tom Wahlig Advanced Scholarship award of 100,000€ to be given to a distinguished scientist with an excellent record in neurobiology for research towards a specific goal.  The first of these awards went to Beate Winner, Carol Marchetto, Fred H Gage, Zacharias Kohl and Juergen Winkler for their research on individualized human in vitro model for HSP.
To date the foundation’s biggest achievement has been its involvement in research programmes that led to the discovery of the first pathogenic gene. “We now have knock-in and knock-out mice so we know much more about nerve procedures,” explains Dr. Wahlig.
A knock-in, or gene knock-in, refers to a genetic engineering method involving the targeted insertion of a specific DNA sequence at a particular locus in an organism’s chromosome. Typically this is done in mice because mice embryonic cells are easily manipulated. A common use for knock-in technology is for the creation of disease models. A knock-out mouse is a genetically engineered mouse in which one or more genes have been turned off through a targeted mutation. By de-activating or knocking out a specific gene in the mouse and observing differences from normal behaviour or condition, researchers can gather information about the probable function of the gene. Man shares many genes with mice, so observing the characteristics of knockout mice gives researchers information that can be used to better understand how a gene can cause or contribute to disease in humans.
These projects are largely dependant on fund-raising and the Tom Wahlig Foundation works hard to attract private and corporate donations as well as organizing more light-hearted events like charity football matches and book sales. In 2008 the foundation held a competition to find a name for three teddy bears. Harry, Susi and Pauli have become the foundation’s mascots and their sale contributes to funding research and other areas of the foundation’s work.
Raising interest and awareness is paramount to raising funds and profile. With this in mind, the foundation launched their “pacesetters” initiative. “This campaign aims to encourage celebrities to take a small step for people with HSP who are no longer able to walk themselves,” explains Dr. Wahlig. Public statements made by the celebrity about the work and aims of the foundation are used to promote the work of the foundation and raise awareness of HSP. “Celebrity endorsements result in our being more ‘celebrated’ in the public eye.” Among the “pacesetters” are Princess von Furstenberg and Uwe Seeler, former captain of the German soccer team.
The Tom Wahlig Foundation works closely with other HSP organizations like Selbsthilfegruppe Deutschland, HSP-Foundation USA and Associacion Espanola de Paraparesia Espastica Familiar. The foundation organizes an annual international symposium to raise the profile of HSP, to support and share projects worldwide and to encourage a greater number of young researchers to join their constantly growing research family.
“Dr. Wahlig is confident: “One day we will have a chance to cure this disease.”
For more information:
www.hsp-info.de  or info@hsp-info.de
Visit the RareConnect HSP Online Patient Community

This article was first published in the January 2011 issue of the EURORDIS newsletter
Author: Irene Palko
Photo credits: © Tom Wahlig Foundation for HSP

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