“Cure through innovation” is the slogan of the Telethon 2013 fundraising campaign which will begin on 6 and 7 December.

Between 5,000 and 7,000 rare diseases have been listed affecting 3 million people in France.

For a very long time, these disorders, which are mainly genetic and invalidating, were poorly understood.
The Telethon, a major fundraising movement organised by and for the French Muscular Dystrophy Association (AFM), broadcast live on France Télévisions, puts genetic disorders in the limelight. The aim of these two days is to raise maximum funding to improve patient care, provide suitable help for patients and actively support research.

Professor Jérôme Bertherat, head of the Endocrine and Metabolism Disorders Department at Cochin Hospital in Paris, and his team have shown that a rare disease, Cushing’s syndrome caused by macronodular adrenal hyperplasia, has a genetic origin. The work, which was recently published in the New England Journal of Medicine, is an excellent illustration of the usefulness of genetics to gain a more sophisticated understanding of a rare disorder, and the physiopathology of other disorders.

Click to read the interview with Jérôme Bertherat (French version)

At the IUT GMP of Lyon 1 University, researchers for the first time were able to teach an industrial robot how to perform new tasks, by explaining the task in spoken language.  Combining forces from cognitive neuroscience and industrial robotics, Peter Ford Dominey (INSERM/CNRS) and Sébastien Henry (Univ Lyon 1) made the link between language and robot commands.  This may be the first step towards allowing smart robots to interact with non-experts in the factory.  And this may be a step in boosting the competitivity of French PMEs.  

M. Dominey and his colleagues will talk about interaction between men and robots during a pau sujet de l’interaction the Interspeech conference in Lyon, Wednesday 28  august   (special session « Show and Tell », Wednesday 28 August, 2-4 pm).

“On-Line Learning of Lexial Items and Grammatical Constructions via Speech, Gaze and Action-Based Human-Robot Interaction”
Gregoire Pointeau, Maxime Petit, Xavier Hinaut, Guillaume Gibert, Peter Ford Dominey, Interspeech 2013, Lyon.

See the process that give robots the ability to execute several tasks, thanks to the human voice :

One year after the success of the Paralympic Games in London, France will be hosting the World Handisport Athletics Championships this Friday 19 July in Lyon (lasting until 28 July, the World Handisport Athletics Championships.

In Dijon, Gaëlle Deley, scientific officer of the Centre d’Expertise de la Performance and associate researcher in Inserm Unit 1093 “Cognition, action, sensory-motor plasticity” and her team have developed an innovative training technique for paraplegics.

In fact, if they are to be effective for health, sports exercises need to reach a certain intensity but this poses a problem for paraplegics. That is because their bodies do not generally work out hard enough because they can only use their upper limbs. This affects their health since the main causes of mortality among paraplegics are cardiovascular diseases.

By using a rowing machine combined with electrical stimulation, the patient is able to perform the same movements as an able-bodied sportsperson. This procedure mobilises all the muscles in the body and is aimed at increasing the physical capacities and quality of life for a wheelchair-bound person.

crédit : ©Gaëlle Deley

The patient sends an electrical current to his/her thighs via electrodes. This causes the muscles to contract and propel the chair backwards. When the electric current is cut, the action of the upper limbs moves the chair forwards.

This programme, developed in close collaboration with Harvard University, has already taken on considerable magnitude in the United States.  “The purpose is to look at our results and progress together. If the health benefits are confirmed, this method could be developed on a larger scale”, explains the scientific officer.

The initial results are very encouraging: the physical capacities of the patients have improved by nearly 40% after only a few months.

“Apart from the health benefits, this method is of great interest to the paraplegic sportsperson, regardless of the sport practised, because this makes it possible to train at much greater intensity and thus to develop physical abilities to a much greater extent”.

For more information about the study currently in progress, please contact Gaëlle Deley.

“Oser vaincre” (Dare to win) is the slogan for the Telethon 2012 campaign that will start on December 7 and 8.  Three million people in France are affected by 6,000 different rare diseases. These diseases, mostly genetic and disabling, had remained largely unknown for a long time. The aim of the Telethon is to put these diseases back in the limelight, to provide good quality care for those who suffer from them, to provide suitable support and obtain concrete solutions to help them cope with the diseases by actively supporting research.

Several Inserm researchers are currently working on these rare diseases.Some of them will take part in the 30-hour live Telethon programme and will present the results of their research. They will be available to answer any questions you want to ask between now and Friday.

The personalities below will take part in the Telethon:

Marisol Corral Debrinsky and José-Alain Sahel from theInstituteofVision
Marc Peschanski and Xavier Nissan from Istem
Marina Cavazzana and Alain Fischer
Martine Barkats, Thomas Voit and Laurent Servais from theInstituteofMyology
Nicolas Lévy
Philippe Moullier and Guylène Le Meur

The press releases from these teams are available.

Identification of a recurrent chromosomal anomaly in neural cells derived from pluripotent stem cells (ES and iPS).

The cause of blindness has been identified for certain forms of deaf/blind disorders

On 6 December 2012, Patrizia Paterlini Bréchot’s team published an article demonstrating that it was possible to obtain a prenatal diagnosis of genetic diseases from a simple blood sample.