TITRE LOREM IPSUM · TITRE LOREM IPSUM 1 enfant sur 700 est atteint d’une forme de surdité...

TITRE LOREM IPSUM

TITRE LOREM IPSUM

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TITRE LOREM IPSUM

TITRE LOREM IPSUM

RETENTISSEMENT DE LA SURDITÉ

Chez l’enfant,

difficultés d’acquisition du langage parlé risque d’échec scolaire important choix professionnel restreint

Chez l’adulte devenu sourd,

isolement, solitude perte du lien social syndrome dépressif réactionnel

TITRE LOREM IPSUM

1 enfant sur 700 est atteint d’une forme de surdité sévère ou profonde à la naissance

1 enfant sur 1000 deviendra sourd, sévère ou profond, avant l’âge adulte

2,3% de la population entre 60 et 70 ans souffrent d’une atteinte auditive sévère

40% des individus au-delà de 70 ans, ont une perte auditive qui gène les échanges conversationnels

SURDITÉ ET MALENTENDANCE

TITRE LOREM IPSUM

TITRE LOREM IPSUM

1916

10

6

TITRE LOREM IPSUM

TITRE LOREM IPSUM

75 weeks for 70 students

TITRE LOREM IPSUM

TITRE LOREM IPSUM

EuroHear

Coordinator: Pr. Christine Petit, Institut Pasteur, Professor at the Collège de France - Inserm U 587- University ParisVI

Co-coordinator: Pr. Karen B. Avraham, Tel Aviv University

TITRE LOREM IPSUM

context of the project

More than 40 millions of people

are hearing impaired, in the EU (10%). Deafness is the most frequent sensory defect. It may occur at any age with any

degree of severity.

-More than 1 child out of 1000 is severely or profoundly deaf at birth. In these children, speech acquisition and learning to read are considerably hindered.

-Over 65, a third of the population is suffering from hearing loss impeding conversation. This results in major impediment to daily life and threatens personal autonomy and finally in social isolation and often in depression.

HEARING IS THE SENSE OF THE COMMUNICATIONHEARING IS THE SENSE OF THE COMMUNICATION

-There is no treatment (only protheses).

-Cost is over 90 billion € annually in EU.

TITRE LOREM IPSUM

context of the project

When considering the “Disability –adjusted – life – year (DALY). hearing loss ranks 13th in 2002

and will rank 9th in 2030. It is the sum of two components: Years Lived with disability+Years of life

lost= DALY. Meaning that the years lost due to disability caused by late onset form of deafness will

become more and more prevalent regarding the other disorders in the coming years.

Mathers & Loncar PLOS Med 2006

TITRE LOREM IPSUM

Objectives of the project

EuroHear has three closely related objectives:

-To identify the genes causative for sensorineural hearing impairment: early and late onset forms

-To understand the mechanisms underlying normal and impaired hearing

-To develop tools to prevent and to cure of hearing impairment

TITRE LOREM IPSUM

Acoustic trauma →

ATP →

Ca2+ connection

A unique situation in which genetics and understanding how an organ functions, goes hand in hand.

Methodologies

cochlea

TITRE LOREM IPSUM

What is the value of the european dimension?

- Searching for deafness genes in humans and mouse (Enu mutagenesis programs)for early and late onset forms of deafness, in parallel, is the most efficient way to access to the human deafness genes.Mouse and human cochlea are highly similar.



- Pooling the ressources (DNA samples) a sine qua non condition to find some human deafness genes (late onset form, presbycusis).

-To get an integrated view of how the hearing organ works, physicians, human and mouse geneticists, cell biologists, biochemists, electrophysiologists, physicists and theoricians have to work together.On its own, none of the european countries, has such a potential.

TITRE LOREM IPSUM

major achievements (1)

Finding of genes causative for hearing impairment in mouse and

humans

• We have identified 15 new loci for deafness• We have discovered 12 new genes for deafness

4 deafness genes causative isolated (non-syndromic) deafness. Among them, we identified the first gene causing a defect only in neurons of the central nervous system processing the auditory information but not affecting the sensory hearing organ, the cochlea.

8 genes mutated in syndromic deafness.

Altogether, within the FP5&6 programs, identification of half of the known genes for deafness.

TITRE LOREM IPSUM


Understanding of the mechanisms involved in normal

and impaired hearing

Shaker-1 mutant

From Jax Lab

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from human deafness to mouse model

multidisciplinaryapproaches

TITRE LOREM IPSUM


Understanding of the mechanisms involved in normal and impaired hearing

We elucidated the way in which the deafness genes we had discovered are leading to deafness i.e -the vessel barrier within the cochlea may be disrupted in some of deafness, -the total lack of neurotransmission (a multidisciplinary european effort).

We began understanding how the compartments of the auditory sensory cells are operating and which molecules are implicated.

TITRE LOREM IPSUM


Drug screening and novel methods for stimulating the regeneration or the replacement of sensory cells are being actively explored.

Some of our findings have already had positive impacts for patients: -molecular diagnosis for the new genes has been developed, -clinical description for each form of deafness including its prognosis is well on its way, -epidemiological data are in the process of being generated, -the controversy regarding the possible benefit of cochlear implants in some forms of deafness has been partially solved.

On the basis of our findings of the functional connections between several deafness genes, we are now in a position to identify possible targets for therapies, common to several deafness forms.

TITRE LOREM IPSUM

Training and meetings

• Theoretical training : 1 week every year for more than 30 european students

– 2006: Physiology of the cochlea– 2007: Imaging: cell and tissue

Practical training: 23 weeks for 20 students in 2006

• Meetings:– « The structure and operation of the Hair Bundle »,

April 2007: 130 scientists from 16 different countries– « Hearing and Seeing: European research to fight

deafness and blindness », July 2007: 170 participants expected

TITRE LOREM IPSUM

Conclusions

• We believe that EuroHear is on the right track

• Two major issues: - Identification of the genes causative for late onset forms of

deafness, presbycusis (objectives: diagnostic, prevention and curing)

- To make sure to go on pooling our efforts and expertise in the future.. With their multidisciplinary approaches, EuroHear Partners should indeed have the leadership to stand upcoming challenges both in basic and medical terms.

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acknowledgements

The identification of genes is made possible by the

active involvement of hearing-impaired patients and their

families

Surdité et audition : des gènes pour comprendre

Christine PETIT

TITRE LOREM IPSUM

TITRE LOREM IPSUM

Construction d’un espace plurisciplinaire européen de recherche sur l’audition et la surdité : réalisations, perspectives

Pour la traiter:


TITRE LOREM IPSUM

TITRE LOREM IPSUM


• Christine PETIT

TITRE LOREM IPSUM

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