NMD-CHIP

Development of targeted DNA-Chips for High Throughput Diagnosis of NeuroMuscular Disorders

 Coordinatore INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) 

 Organization address address: 101 Rue de Tolbiac
city: PARIS
postcode: 75654

contact info
Titolo: Ms.
Nome: Véronique
Cognome: Legros
Email: send email
Telefono: +33 4 91 82 70 15
Fax: +33 4 91 74 20 67

 Nazionalità Coordinatore France [FR]
 Sito del progetto http://www.nmd-chip.eu/
 Totale costo 3˙773˙723 €
 EC contributo 2˙907˙735 €
 Programma FP7-HEALTH
Specific Programme "Cooperation": Health
 Code Call FP7-HEALTH-2007-B
 Funding Scheme CP-FP
 Anno di inizio 2008
 Periodo (anno-mese-giorno) 2008-10-01   -   2011-09-30

 Partecipanti

# participant  country  role  EC contrib. [€] 
1    INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM)

 Organization address address: 101 Rue de Tolbiac
city: PARIS
postcode: 75654

contact info
Titolo: Ms.
Nome: Véronique
Cognome: Legros
Email: send email
Telefono: +33 4 91 82 70 15
Fax: +33 4 91 74 20 67

FR (PARIS) coordinator 0.00
2    ACADEMISCH ZIEKENHUIS LEIDEN

 Organization address address: Albinusdreef 2
city: LEIDEN
postcode: 2333 ZA

contact info
Titolo: Mr.
Nome: Ruud
Cognome: Esveld
Email: send email
Telefono: +31 71 526 9566
Fax: +31 71 5268275

NL (LEIDEN) participant 0.00
3    ASSOCIATION GENETHON

 Organization address address: RUE DE L INTERNATIONALE 1 BIS
city: EVRY
postcode: 91002

contact info
Titolo: Mr.
Nome: Jean-Philippe
Cognome: Marin
Email: send email
Telefono: -69472540
Fax: -

FR (EVRY) participant 0.00
4    ASSOCIATION INSTITUT DE MYOLOGIE

 Organization address address: BOULEVARD DE L HOPITAL 47-83
city: PARIS
postcode: 75651

contact info
Titolo: Mr.
Nome: Stéphane
Cognome: Roques
Email: send email
Telefono: +33-1 42 16 58 53
Fax: +33-1 42 16 96 57

FR (PARIS) participant 0.00
5    JULIUS-MAXIMILIANS UNIVERSITAET WUERZBURG

 Organization address address: SANDERRING 2
city: WUERZBURG
postcode: 97070

contact info
Titolo: Mr.
Nome: Christian
Cognome: Gloggengiesser
Email: send email
Telefono: -313176
Fax: -318062

DE (WUERZBURG) participant 0.00
6    KAROLINSKA INSTITUTET

 Organization address address: Nobels Vag 5
city: STOCKHOLM
postcode: 17177

contact info
Titolo: Mr.
Nome: Thomas
Cognome: Walstam
Email: send email
Telefono: +46 8 51773487
Fax: +46 8 51771774

SE (STOCKHOLM) participant 0.00
7    ORSZAGOS KOZEGESZSEGUGYI KOZPONT

 Organization address address: GYALI UTCA 26-6
city: BUDAPEST
postcode: 1097

contact info
Titolo: Mr.
Nome: Istvan
Cognome: Manheim
Email: send email
Telefono: -14761236
Fax: -12152010

HU (BUDAPEST) participant 0.00
8    PARTNERCHIP SAS

 Organization address address: RUE PIERRE FONTAINE 4 4
city: EVRY
postcode: 91058

contact info
Titolo: Dr.
Nome: Pascal
Cognome: Soularue
Email: send email
Telefono: 00 33 (0)1 60 87 34 62
Fax: 00 33 (0)1 60 87 34 98

FR (EVRY) participant 0.00
9    PHENOSYSTEMS SA

 Organization address address: SENTIER DES COMMUNS 1
city: BLONAY
postcode: 1807

contact info
Titolo: Dr.
Nome: David
Cognome: Atlan
Email: send email
Telefono: +41 225 481 400
Fax: +32 279 158 34

CH (BLONAY) participant 0.00
10    PHENOSYSTEMS SA

 Organization address address: "Rue Raymond Lebleux, 114 Batiment H3"
city: LILLOIS WITTERZEE
postcode: 1428

contact info
Titolo: Dr.
Nome: David
Cognome: Atlan
Email: send email
Telefono: +32-(0)2-7368359
Fax: +32-(0)2-7915834

BE (LILLOIS WITTERZEE) participant 0.00
11    TECHNISCHE UNIVERSITAET DRESDEN

 Organization address address: HELMHOLTZSTRASSE 10
city: DRESDEN
postcode: 1069

contact info
Titolo: Mr.
Nome: Sven
Cognome: Kreigenfeld
Email: send email
Telefono: -46340046
Fax: -46340044

DE (DRESDEN) participant 0.00
12    UNIVERSITA DEGLI STUDI DI FERRARA

 Organization address address: SAVONAROLA 9
city: FERRARA
postcode: 44100

contact info
Titolo: Prof.
Nome: Roberto
Cognome: Manservigi
Email: send email
Telefono: -455894
Fax: -248111

IT (FERRARA) participant 0.00
13    UNIVERSITY COLLEGE LONDON

 Organization address address: GOWER STREET
city: LONDON
postcode: WC1E 6BT

contact info
Titolo: Mr.
Nome: Kent
Cognome: Lee
Email: send email
Telefono: -76796272
Fax: -76796478

UK (LONDON) participant 0.00
14    UNIVERSITY OF NEWCASTLE UPON TYNE

 Organization address address: Kensington Terrace 6
city: NEWCASTLE UPON TYNE
postcode: NE1 7RU

contact info
Titolo: Dr.
Nome: Douglas
Cognome: Robertson
Email: send email
Telefono: +44-(0)191-222-5148
Fax: +44-(0)191-222-3401

UK (NEWCASTLE UPON TYNE) participant 0.00

Mappa


 Word cloud

Esplora la "nuvola delle parole (Word Cloud) per avere un'idea di massima del progetto.

nmd    sequencing    clinical    disease    genetic    diagnosis    tools    dna    diseases    time    genes    diagnostic    neuromuscular    dystrophies    patients    precise    therapies    group    mutations    disorders    edge    cutting    dmd    bmd    candidate    tests    inherited    chip    muscular    molecular   

 Obiettivo del progetto (Objective)

'Inherited Neuromuscular Diseases (NMD) form a large group of diseases including Limb-Girdle Muscular Dystrophies (LGMD), Congenital Muscular Dystrophies (CMD), Duchenne and Becker Muscular Dystrophies (DMD/BMD), or Charcot-Marie-Tooth disease (CMT). Within a given disease group genetic and clinical heterogeneity is the hallmark. The precise diagnostic of neuromuscular diseases thus requires extensive clinical examination and targeted complementary tests. Additionally, since many of the disease causing mutations are known, molecular and genetic tests are performed to confirm and precise the diagnostic. According to presently available technologies, this is highly complex and time consuming. Thus, many patients remain devoid of genetic confirmation of their disease. More importantly, new cutting edge therapies cannot and will not be possibly envisaged in absence of a precise genetic diagnosis. New molecular diagnosis tools, enabling quick, reliable and cost-effective sequencing of numerous NMD genes are thus required. The development of such tools would allow performing the genetic diagnostic of NMDs patients. DNA chips have the potential to address this issue, in a time and cost effective way. The goal of this project is to i) design and validate a DNA Chip for sequencing genes responsible for LGMDs, CMDs, DMD/BMD, and CMTs, and ii) use the DNA Chip technology to identify new genes/mutations involved in these inherited NMD and increase the molecular diagnosis/patients ratio. This approach will be based on a gene candidate approach. NMD-Chip will thus lead to the development of a novel sensitive and reliable (98%) diagnostic tool, with time and cost effectiveness dedicated to neuromuscular disorders. In total, NMD-Chip, based on human genome knowledge and an advanced read out technology, will give patients an easy access to molecular diagnosis and will thus allow them to benefit from cutting edge therapies which are currently developed.'

Introduzione (Teaser)

European researchers developed a high-throughput diagnostic method for neuromuscular disorders based on DNA arrays. By incorporating all affected and candidate genes, the partners of the NMD-CHIP project aimed to revolutionise and accelerate current diagnostic procedures.

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