<ul><li>The MutaDATABASE project </li></ul><ul><li>  </li></ul><ul><li>  Wim Van Criekinge, BIOBIX, Univ Ghent, Belgium </...
The Problem <ul><li>Novel mutations are not being made public  </li></ul><ul><li>through publication or database entry </l...
The problem is being PCR-amplified <ul><li>Genetic testing is moving towards testing of whole populations  </li></ul><ul><...
Next  Generation  Sequencing 23.000 WHOLE EXOME 160 RETINAL PATHOLOGY 93 X-LINKED MENTAL RETARDATION 57  FAMILIAL CARDIOMY...
  Mutation  Databases < 200.000  3611 TOTAL + 12.000 + + 83 DMuDB + ? Few - 600 HGVS + 163.061 + - 895 LOVD + ? Few + + < ...
Nothing new under the sun ?
<ul><li>  Deafness : 50 genes (apart from GJB2) </li></ul><ul><ul><li>In total literature + databases :  230 mutations </l...
Input mutations into public domain 538 1305 TOTAL 5 21 MYL3 10 44 MYL2 14 68 TPM1 43 108 TNNT2 41 85 TNNI3 236 480 MYH7 18...
BRCA1/2 : +/- 17.000 bp coding sequence 3.500 variations Total genome : +/- 34.000.000 bp coding sequence 7.000.000 variat...
<ul><li>Estimation is that less than 10 %  </li></ul><ul><li>mutations is in public domain </li></ul><ul><li>Research labs...
TOO DIFFICULT TOO TIME CONSUMING NO EASY GATEWAY Why do we not put mutations into the public domain ?
Where do we go fishing for mutations ?
<ul><ul><ul><ul><ul><li>GENEDX </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>LABCORP CORRELAGEN ATHENA DIAGNOSTICS...
MutaDATABASE <ul><li>  An international project   to get standardized gene  </li></ul><ul><li>  mutation databases on a ce...
Website MutaDATABASE Gene curators  MutaCURATORS Mutation collectors  MutaADMINISTRATORS Clinical info MutaCLINICIANS Soft...
MutaREVIEWS MutaCURATORS PUBLIC MutaCIRCLES MutaDATABASE MutaCLINICIANS MutaADMINISTRATORS
<ul><ul><ul><ul><li>MutaDATABASE </li></ul></ul></ul></ul><ul><li>collects all human gene variations </li></ul><ul><li>rel...
  MutaDATABASE <ul><li>1. Provides general information on human disease genes </li></ul><ul><li>2.  Provides  overviews of...
MutaDATABASE - LOVD MutaDATABASE and LOVD  are collaborating through Johan Den Dunnen
<ul><li>Control gene databases in MutaDATABASE </li></ul><ul><li>Review all info submitted to MutaDATABASE </li></ul><ul><...
<ul><li>Travel to large test labs to put info into MutaDATABASE </li></ul><ul><li>Contact small test labs to put info into...
<ul><li>Labs that work on the same gene form a gene circle </li></ul><ul><li>The exchanged info is available on the websit...
Lab 1 Lab 2 Lab 3 Lab 4 MutaCIRCLES MutaCIRCLES
MutaCIRCLES -- X -- -- -- -- -- -- --- -- INSIGHT -- x -- x -- x -- -- -- -- Duarte x x -- x -- -- x -- -- -- Emory x x --...
<ul><li>Online journal, no hard copy </li></ul><ul><li>Free access </li></ul><ul><li>Only gene reviews, 300 genes per year...
MutaREPORTER
MutaREPORTER <ul><li>Is software interface between lab sequencers and website </li></ul><ul><li>Imports patient’s gene seq...
  MutaREPORTER
MutaREPORTER <ul><li>Access to all info in MutaDATABASE </li></ul><ul><li>A genome browser with track-based sequence views...
MutaREPORTER  key principles <ul><li>Facilitates data input of variants with a few keystrokes </li></ul><ul><li>Visualizes...
MutaREPORTER <ul><li>Assembly aware storage, reference database independent  </li></ul><ul><li>(Ensembl / Genbank)  </li><...
<ul><li>Offered as a “Software as a Service” or SaaS </li></ul><ul><li>Centrally managed on mutareporter servers, configur...
MutaREPORTER  Final goal <ul><li>Recording variants directly from sequencer </li></ul><ul><li>Interpretation variants usin...
Early Adopter program (EAP)   <ul><li>Early Adopter program (EAP) for MutaREPORTER </li></ul><ul><li>Proof-of-principle fo...
 
MutaCURATORS Patients MutaDATABASE Clinicians Labs MutaREPORTER Input  Mutation  information MutaADMINISTRATORS
  Charter   The MutaDATABASE Charter on Intellectual Property  Pertaining to DNA Variants and the Information Embedded The...
  Charter   DNA  variants  are   public  property
TOO DIFFICULT TOO TIME CONSUMING NO EASY GATEWAY Why do we not put clinical info into the public domain ?
PHENEXPLORER Patients MutaDATABASE Clinicians Labs Input  Clinical  information
<ul><li>Mutation X in L1CAM </li></ul><ul><li>Observation  Lab  Dr  Patient   Features using Phenexplorer </li></ul><ul><l...
<ul><li>Review all clinical info submitted </li></ul><ul><li>Contact clinicians </li></ul><ul><li>Contact patient groups <...
<ul><li>Group of supervising dysmorphologists :  </li></ul><ul><li>Raoul Hennekam, Les Biesecker, Peter Robinson, Ada Hamo...
<ul><li>Listing mutations as “OBSERVATIONS” will allow to : </li></ul><ul><ul><li>Determine the frequency of mutations </l...
MutaDATABASE Clinical info Input  information Molecular info PHENEXPLORER MutaREPORTER
Labs through MutaDATABASE MutaREPORTER MutaCURATORS through MutaREPORTER MutaADMINISTRATORS  through MutaREPORTER MutaCLIN...
MutaREVIEWS MutaCURATORS PUBLIC MutaCIRCLES MutaDATABASE MutaCLINICIANS MutaADMINISTRATORS
<ul><li>1. Wim Van Criekinge, PhD   University of Ghent, Belgium </li></ul><ul><li>2.  Sherri Bale, PhD  GENEDX, Gaithersb...
<ul><li>Short term :  GHENT University  </li></ul><ul><li>  GENEDX </li></ul><ul><li>  GENDIA </li></ul><ul><li>Long term ...
<ul><li>Address :  MutaDATABASE </li></ul><ul><li>  BIOBIX </li></ul><ul><li>  Dept of Molecular Biotechnology </li></ul><...
Advisory Board <ul><li>Abbaszadegan Iran  (Mashhad) </li></ul><ul><li>Algazali  Lihadh  UAE (Al Ain city) </li></ul><ul><l...
  DO  NOT  LITTER
Upcoming SlideShare
Loading in …5
×

MutaDATABASE

1,558 views

Published on

A slide presentation of MutaDATABASE which can be found on http://www.mutadatabase.org

0 Comments
0 Likes
Statistics
Notes
  • Be the first to comment

  • Be the first to like this

No Downloads
Views
Total views
1,558
On SlideShare
0
From Embeds
0
Number of Embeds
63
Actions
Shares
0
Downloads
19
Comments
0
Likes
0
Embeds 0
No embeds

No notes for slide

MutaDATABASE

  1. 1. <ul><li>The MutaDATABASE project </li></ul><ul><li> </li></ul><ul><li> Wim Van Criekinge, BIOBIX, Univ Ghent, Belgium </li></ul><ul><li> Sherri Bale, GENEDX, Gaithersburg, USA </li></ul><ul><li> Frederik Decouttere, GENOHM, Ghent, Belgium </li></ul><ul><li> </li></ul><ul><li> Heidi Rehm, PhD, Harvard Medical Schoool, Boston, USA </li></ul><ul><li> Bob Nussbaum, Dept Human Genetics, UCSF, USA </li></ul><ul><li> </li></ul><ul><li> Johan Den Dunnen, Leiden University, the Netherlands </li></ul><ul><li> Patrick Willems, GENDIA, Antwerp, Belgium </li></ul>
  2. 2. The Problem <ul><li>Novel mutations are not being made public </li></ul><ul><li>through publication or database entry </li></ul><ul><li>Many remain unclassified variants </li></ul><ul><li>which is a challenge for genetic counseling </li></ul>
  3. 3. The problem is being PCR-amplified <ul><li>Genetic testing is moving towards testing of whole populations </li></ul><ul><li>for multifactorial disease (common and rare variants) </li></ul><ul><li>Genetic testing is moving towards testing of whole exomes/genomes </li></ul><ul><li>on next generation sequencing platforms </li></ul>
  4. 4. Next Generation Sequencing 23.000 WHOLE EXOME 160 RETINAL PATHOLOGY 93 X-LINKED MENTAL RETARDATION 57 FAMILIAL CARDIOMYOPATHY 55 EPILEPSIA 24 CONGENITAL DISORDERS OF GLYCOSYLATION (CDG) 24 FAMILIAL ARRHYTHMIA 23 DILATED CARDIOMIOPATHY (DCM) 19 USHER SYNDROME AND NON-SYNDROMIC DEAFNESS 18 DEMENTIA 17 HYPERTROPHIC CARDIOMIOPATHY (HCM) 14 PARKINSON 12 MUSCULAR DYSTROPHY 10 LONG QT SYNDROME 8 NOONAN, LEOPARD, COSTELLO AND CARDIOFACIOCUTANEOUS SYNDROME 7 FAMILIAL HYPERCHOLESTEROLEMIA 7 AUTOSOMAL RECESSIVE AND SPORADIC RETINITIS PIGMENTOSA 7 ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY (ARVC) 5 BRUGADA SYNDROME 2 CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT) Nr genes Next generation sequencing panels
  5. 5. Mutation Databases < 200.000 3611 TOTAL + 12.000 + + 83 DMuDB + ? Few - 600 HGVS + 163.061 + - 895 LOVD + ? Few + + < 1000 MutDB + ? Few + + < 50 UMD - 96.631 + + 3611 HGMD Free Mutations Standardised Centralised Genes Database
  6. 6. Nothing new under the sun ?
  7. 7. <ul><li> Deafness : 50 genes (apart from GJB2) </li></ul><ul><ul><li>In total literature + databases : 230 mutations </li></ul></ul><ul><ul><li>1 single lab : > (unpublished) 1800 mutations </li></ul></ul>Input mutations into public domain
  8. 8. Input mutations into public domain 538 1305 TOTAL 5 21 MYL3 10 44 MYL2 14 68 TPM1 43 108 TNNT2 41 85 TNNI3 236 480 MYH7 180 463 MYBPC3 9 36 ACTC HGVS DATABASE MutaDATABASE Lab 1 (Harvard) HCM Gene
  9. 9. BRCA1/2 : +/- 17.000 bp coding sequence 3.500 variations Total genome : +/- 34.000.000 bp coding sequence 7.000.000 variations Estimated number of mutations
  10. 10. <ul><li>Estimation is that less than 10 % </li></ul><ul><li>mutations is in public domain </li></ul><ul><li>Research labs : Many mutations in the past </li></ul><ul><li> Few mutations over the last years </li></ul><ul><ul><li>Diagnostic labs: Europe : moderate number </li></ul></ul><ul><ul><li> USA : few mutations </li></ul></ul>Input mutations into public domain
  11. 11. TOO DIFFICULT TOO TIME CONSUMING NO EASY GATEWAY Why do we not put mutations into the public domain ?
  12. 12. Where do we go fishing for mutations ?
  13. 13. <ul><ul><ul><ul><ul><li>GENEDX </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>LABCORP CORRELAGEN ATHENA DIAGNOSTICS GENZYME QUEST ARUP MAYO HOUSTON EMORY DUARTE CHICAGO GREENWOOD </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>BOSTON </li></ul></ul></ul></ul></ul><ul><ul><ul><ul><ul><li>MYRIAD ?? </li></ul></ul></ul></ul></ul>Input mutations into public domain by US labs
  14. 14. MutaDATABASE <ul><li> An international project  to get standardized gene </li></ul><ul><li> mutation databases on a central database platform </li></ul><ul><li>(MutaDATABASE) </li></ul><ul><ul><li>by converting existing gene databases to a standardized format </li></ul></ul><ul><ul><li>by addition of new gene databases </li></ul></ul>
  15. 15. Website MutaDATABASE Gene curators MutaCURATORS Mutation collectors MutaADMINISTRATORS Clinical info MutaCLINICIANS Software MutaREPORTER Lab circles MutaCIRCLES Journal MutaREVIEWS Entities
  16. 16. MutaREVIEWS MutaCURATORS PUBLIC MutaCIRCLES MutaDATABASE MutaCLINICIANS MutaADMINISTRATORS
  17. 17. <ul><ul><ul><ul><li>MutaDATABASE </li></ul></ul></ul></ul><ul><li>collects all human gene variations </li></ul><ul><li>related to monogenetic disease </li></ul><ul><li>into a database which is : </li></ul><ul><ul><ul><li>centralized (server University Ghent) </li></ul></ul></ul><ul><ul><ul><li>standardized </li></ul></ul></ul><ul><ul><ul><li>freely available </li></ul></ul></ul><ul><ul><ul><li>open access </li></ul></ul></ul><ul><ul><ul><li>freely exportable to other databases </li></ul></ul></ul>
  18. 18. MutaDATABASE <ul><li>1. Provides general information on human disease genes </li></ul><ul><li>2. Provides overviews of all mutations in these genes </li></ul><ul><li>3. Provides overviews of diseases associated with these genes </li></ul><ul><li>3. Provides tables of : </li></ul><ul><ul><li>cDNA sequence </li></ul></ul><ul><ul><li>Amino acid sequence </li></ul></ul><ul><ul><li>Exon-intron sequences </li></ul></ul><ul><ul><li>Disease mutations </li></ul></ul><ul><li>4. Provides figures of : </li></ul><ul><ul><li>Cytogenetic localization </li></ul></ul><ul><ul><li>Physical map </li></ul></ul><ul><ul><li>Genomic structure </li></ul></ul><ul><ul><li>Mutations listed as observations in single patients together with clinical info </li></ul></ul><ul><li>5. Allows easy submission of molecular and clinical info </li></ul>
  19. 19. MutaDATABASE - LOVD MutaDATABASE and LOVD are collaborating through Johan Den Dunnen
  20. 20. <ul><li>Control gene databases in MutaDATABASE </li></ul><ul><li>Review all info submitted to MutaDATABASE </li></ul><ul><li>Supervise MutaCIRCLES </li></ul><ul><li>Write gene reviews for MutaREVIEWS </li></ul>MutaCURATORS
  21. 21. <ul><li>Travel to large test labs to put info into MutaDATABASE </li></ul><ul><li>Contact small test labs to put info into MutaDATABASE </li></ul><ul><li>Teach labs how to put information into MutaDATABASE </li></ul>MutaADMINISTRATORS
  22. 22. <ul><li>Labs that work on the same gene form a gene circle </li></ul><ul><li>The exchanged info is available on the website </li></ul><ul><li>Questions automatically go to all members of the circle </li></ul><ul><li>The lab circles joinedly write the gene reviews for the Journal </li></ul><ul><li>The lab circles joinedly write the gene reviews for the Website </li></ul>MutaCIRCLES
  23. 23. Lab 1 Lab 2 Lab 3 Lab 4 MutaCIRCLES MutaCIRCLES
  24. 24. MutaCIRCLES -- X -- -- -- -- -- -- --- -- INSIGHT -- x -- x -- x -- -- -- -- Duarte x x -- x -- -- x -- -- -- Emory x x -- -- -- x x -- -- -- Arup x -- -- -- x -- X -- -- -- Athena -- -- -- -- x x X X x X Correlagen x -- X -- x X X X X Partners -- - x x x -- X X X X GeneDx 10 6 9 10 6 6 9 10 10 7 GENES Deaf Colon Usher MR MODY Aorta Noonan Arrhyth Long QT HCM DISEASE
  25. 25. <ul><li>Online journal, no hard copy </li></ul><ul><li>Free access </li></ul><ul><li>Only gene reviews, 300 genes per year </li></ul><ul><li>Within 5 years most important genes (1500) are covered </li></ul><ul><li>All papers have the same lay out </li></ul><ul><li>MutaCURATORS coordinate </li></ul><ul><li>Every year all reviews are updated </li></ul>MutaREVIEWS
  26. 26. MutaREPORTER
  27. 27. MutaREPORTER <ul><li>Is software interface between lab sequencers and website </li></ul><ul><li>Imports patient’s gene sequence into database </li></ul><ul><li>Picks up gene variations </li></ul><ul><li>Generates the correct nomenclature for the variation </li></ul><ul><li>Qualifies variations into known or novel </li></ul><ul><li>Uses software prediction programs to estimate pathogenicity of novel mutations </li></ul><ul><li>Generates a report for the variation with known or predicted functional significance, gene figure with mutation location, surrounding sequence, references </li></ul><ul><li>Submits novel variations to gene master that evaluates before entering variation into database </li></ul>
  28. 28. MutaREPORTER
  29. 29. MutaREPORTER <ul><li>Access to all info in MutaDATABASE </li></ul><ul><li>A genome browser with track-based sequence views </li></ul><ul><li>A variation checker for HGVS nomenclature </li></ul><ul><li>Facilitated access to prediction tools (Splice site, SIFT, POLYPHEN) </li></ul><ul><li>Possibility to automatically import variants from in-house databases </li></ul><ul><li>Possibility to submit variants into MutaDATABASE </li></ul><ul><li>Possibility to communicate with other genetic labs (MutaCIRCLES) </li></ul>
  30. 30. MutaREPORTER key principles <ul><li>Facilitates data input of variants with a few keystrokes </li></ul><ul><li>Visualizes all variant related information in 1 </li></ul><ul><li>comprehensive, dynamic view </li></ul><ul><li>Includes gene analyses & qualification tools </li></ul><ul><li>Operates seamless across MutaDATABASE projects and participants </li></ul>
  31. 31. MutaREPORTER <ul><li>Assembly aware storage, reference database independent </li></ul><ul><li>(Ensembl / Genbank) </li></ul><ul><li>meaning variants will be named according to user preference </li></ul><ul><li>Submits novel variations to MutaCURATORS </li></ul><ul><li>who evaluates before accepting variation into MutaDATABASE </li></ul><ul><li>Generates the correct nomenclature for the variation </li></ul><ul><li>(HGVS, BIG, …) </li></ul>
  32. 32. <ul><li>Offered as a “Software as a Service” or SaaS </li></ul><ul><li>Centrally managed on mutareporter servers, configured on a high-availability linux cluster </li></ul><ul><li>Fine-grained security model: public – curator – circle – lab </li></ul><ul><li>Client requirement: every web browser with flash support </li></ul><ul><li>built with java and flex (adobe) technologies </li></ul><ul><li>Supports simultaneous login & real-time variant updates within 1 lab and/or MutaCIRCLE: easy collaboration amongst your colleagues </li></ul><ul><li>Open data access (nightly database exports) </li></ul><ul><li>Import/export functions for other popular databases like LOVD, … </li></ul>MutaREPORTER Technical background
  33. 33. MutaREPORTER Final goal <ul><li>Recording variants directly from sequencer </li></ul><ul><li>Interpretation variants using algorithm </li></ul><ul><li>Ranking variants in order of importance </li></ul><ul><li>Issuying result report </li></ul><ul><li>Input info into MutaDATABASE </li></ul>
  34. 34. Early Adopter program (EAP) <ul><li>Early Adopter program (EAP) for MutaREPORTER </li></ul><ul><li>Proof-of-principle for MutaREPORTER, MutaCIRCLES and MutaDATABASE </li></ul><ul><li>This will also facilitate grant applications to NIH and EU/EBI </li></ul><ul><li>The EAP program could be presented to +/- 10 labs </li></ul><ul><li>for +/- 10 heterogenic diseases for +/- 50 genes </li></ul><ul><li>The choice of labs and genes-diseases is based upon the amount of variants expected (Large US labs, labs doing next generation sequencing) </li></ul>
  35. 36. MutaCURATORS Patients MutaDATABASE Clinicians Labs MutaREPORTER Input Mutation information MutaADMINISTRATORS
  36. 37. Charter   The MutaDATABASE Charter on Intellectual Property Pertaining to DNA Variants and the Information Embedded Therein We, the undersigned participants in and supporters of the MutaDATABASE, take the position that variants in human DNA are the ultimate open-source resource: they should be freely available for scientists to study, clinicians to test, and patients (and everyone) to derive health and/or other benefits from. Our view is that human DNA and human DNA information are res publicae [1]. As such, there can be no abiding claims on these data, not by clinical testing laboratories, research laboratories, universities, commercial sequencing and/or genomic interpretation enterprises, gene curators, informaticians, insurers, the state, multinational governance organizations, database proprietors, or persons from whom these data are derived. Maximization of benefits from genomic variant data will require successful interactions among all of these entities with as few barriers in place as possible. Accordingly, MutaDATABASE will be completely &quot;Open Access.&quot; There will be no restrictions and no usage fees. Each participating laboratory and investigator agrees to these terms and agrees to place no strings whatsoever on any data they deposit into MutaDATABASE. Variants in MutaDATABASE are governed by a Creative Commons CC0 license [2]. Specifically, MutaDATABASE depositors waive all copyrights, intellectual property rights, and related or neighboring rights, such as their moral rights (to the extent waivable), their publicity or privacy rights, rights they have protecting against unfair competition, and database rights and rights protecting the extraction, dissemination and reuse of any and all data deposited into MutaDATABASE. 1. Ossorio, P.N., The human genome as common heritage: Common sense or legal nonsense? J Law Med Ethics, 2007. 35 (3): 425-439. 2. http://creativecommons.org/choose/zero/
  37. 38. Charter   DNA variants are public property
  38. 39. TOO DIFFICULT TOO TIME CONSUMING NO EASY GATEWAY Why do we not put clinical info into the public domain ?
  39. 40. PHENEXPLORER Patients MutaDATABASE Clinicians Labs Input Clinical information
  40. 41. <ul><li>Mutation X in L1CAM </li></ul><ul><li>Observation Lab Dr Patient Features using Phenexplorer </li></ul><ul><li>Hydrocephalus Macrocephaly Paraparesis </li></ul><ul><li>1 A X 098765 + - + </li></ul><ul><li>2 B Y 012387 - - + </li></ul><ul><li>3 C X 945628 + + - </li></ul><ul><li>4 A Z 126784 + + + </li></ul><ul><li>5 C T 453986 + - - </li></ul><ul><li>TOTAL 80 % 40 % 60 % </li></ul>Real - time genotype - phenotype correlation
  41. 42. <ul><li>Review all clinical info submitted </li></ul><ul><li>Contact clinicians </li></ul><ul><li>Contact patient groups </li></ul><ul><li>Make phenotype-genotype correlations </li></ul>MutaCLINICIANS
  42. 43. <ul><li>Group of supervising dysmorphologists : </li></ul><ul><li>Raoul Hennekam, Les Biesecker, Peter Robinson, Ada Hamosh, Patrick Willems </li></ul><ul><li>Phenotype ontology (Clinical coding features) is integrating: </li></ul><ul><ul><li>Elements of Morphology ( http:// research.nhgri.nih.gov/morphology/index.cgi ) </li></ul></ul><ul><ul><li>London Dysmorphology database (LDDB) </li></ul></ul><ul><ul><li>HPO - Human Phenotype Ontology (Phenexplorer) </li></ul></ul><ul><li>MutaDATABASE uses Phenexplorer for input of clinical info </li></ul>MutaCLINICIANS
  43. 44. <ul><li>Listing mutations as “OBSERVATIONS” will allow to : </li></ul><ul><ul><li>Determine the frequency of mutations </li></ul></ul><ul><ul><li>Add clinical features from each individual patient </li></ul></ul><ul><ul><li>Refer the diagnosing lab and clinician </li></ul></ul><ul><ul><li>Automatically extract frequency of features for each mutation </li></ul></ul>Input clinical info
  44. 45. MutaDATABASE Clinical info Input information Molecular info PHENEXPLORER MutaREPORTER
  45. 46. Labs through MutaDATABASE MutaREPORTER MutaCURATORS through MutaREPORTER MutaADMINISTRATORS through MutaREPORTER MutaCLINICIANS through MutaREPORTER Clinicians through MutaDATABASE Patients through MutaDATABASE Input mutations
  46. 47. MutaREVIEWS MutaCURATORS PUBLIC MutaCIRCLES MutaDATABASE MutaCLINICIANS MutaADMINISTRATORS
  47. 48. <ul><li>1. Wim Van Criekinge, PhD University of Ghent, Belgium </li></ul><ul><li>2. Sherri Bale, PhD GENEDX, Gaithersburg, USA </li></ul><ul><li>3. Frederik Decouttere, PhD GENOHM , Ghent, Belgium </li></ul><ul><li>4. Heidi Rehm, PhD Harvard Medical Schoool, Boston, USA </li></ul><ul><li>5. Bob Nussbaum, MD UCSF, USA </li></ul><ul><li>6. Johan Den Dunnen, PhD Leiden University, The Netherlands </li></ul><ul><li>7. Patrick Willems, MD, PhD GENDIA, Antwerp, Belgium </li></ul> Principal Investigators
  48. 49. <ul><li>Short term : GHENT University </li></ul><ul><li> GENEDX </li></ul><ul><li> GENDIA </li></ul><ul><li>Long term : NIH ? </li></ul> Funding
  49. 50. <ul><li>Address : MutaDATABASE </li></ul><ul><li> BIOBIX </li></ul><ul><li> Dept of Molecular Biotechnology </li></ul><ul><li>University of Ghent </li></ul><ul><li>Coupure Links 653 </li></ul><ul><li>9000 Ghent, Belgium </li></ul><ul><li>Phone : + 32 495250382 </li></ul><ul><li>Email : info@ mutaDATABASE.org </li></ul><ul><li>Website : www.mutaDATABASE.index.php </li></ul><ul><li>www.mutaDATABASE.org (june) </li></ul> Contact  
  50. 51. Advisory Board <ul><li>Abbaszadegan Iran (Mashhad) </li></ul><ul><li>Algazali Lihadh UAE (Al Ain city) </li></ul><ul><li>Angrist Misha USA (Durham) </li></ul><ul><li>Auerbach Marleen USA (New York) </li></ul><ul><li>Antonarakis Stylianos Switzerland (Geneve) </li></ul><ul><li>Bale Sherri USA (Gaithersburg) </li></ul><ul><li>Batish Sat Dev USA (Worcester) </li></ul><ul><li>Baumgart Karl Australia (Sidney) </li></ul><ul><li>Beales Philip UK (London) </li></ul><ul><li>Beaudet Art USA (Houston) </li></ul><ul><li>Biesecker Leslie USA (NIH) </li></ul><ul><li>Brais Bernard Canada (Montreal) </li></ul><ul><li>Braverman Nancy Canada (Montreal) </li></ul><ul><li>Brice Alexis France (Paris) </li></ul><ul><li>Brody Lawrence USA (Bethesda) </li></ul><ul><li>Burn John UK (Newcastle) </li></ul><ul><li>Byers Peter USA (Seattle) </li></ul><ul><li>Carson Nancy Canada (Ottawa) </li></ul><ul><li>Chakravarti Aravinda USA (Baltimore) </li></ul><ul><li>Chelly Jamel France (Paris) </li></ul><ul><li>Church George USA (Boston) </li></ul><ul><li>Corey Braastad USA (Worcester) </li></ul><ul><li>Cutting Garry USA (Baltimore) </li></ul><ul><li>Dallapicolla Bruno Italy (Rome) </li></ul><ul><li>Das Soma USA (Chicago) </li></ul><ul><li>De La Chapelle Albert USA (Columbus) </li></ul><ul><li>Decouttere Frederik Belgium (Ghent) </li></ul><ul><li>Eng Charis USA (Cleveland) </li></ul><ul><li>Fiorentino Francesco Italy (Rome) </li></ul><ul><li>Friez Michael USA (Greenwood) </li></ul><ul><li>Garcia-Planells Javier Spain (Valencia) </li></ul><ul><li>Gecz Jozef Australia (Adelaide) </li></ul><ul><li>Grosfeld Frank The Netherlands (Rotterdam) </li></ul><ul><li>Hahn Sihoun USA (Seattle) </li></ul><ul><li>Hamosh Ada USA (OMIM) </li></ul><ul><li>Hegde Mathuri USA (Atlanta) </li></ul><ul><li>Hennekam Raoul The Netherlands (Amsterdam) </li></ul><ul><li>Heinz Gabriel Germany (Osnabrueck) </li></ul><ul><li>Holinski Elke Germany (Munchen) </li></ul><ul><li>Kaluzewski Bogdan (Poland) Lodz </li></ul><ul><li>Kimberling Bill USA (Iowa City) </li></ul><ul><li>Klinger Katherine USA (Cambridge) </li></ul><ul><li>Kohlhase Juergen Germany ( Freiburg) </li></ul><ul><li>Lane Birgit Singapore </li></ul><ul><li>Lennon Greg USA (Potomac) </li></ul><ul><li>Levett Lisa UK (London) </li></ul><ul><li>Lyon Elaine USA (Salt Lake City) </li></ul><ul><li>Matsubara Yoichi Japan (Sendai) </li></ul><ul><li>Melegh Bela Hungary (Pecz) </li></ul><ul><li>Milunski Jeff USA (Boston) </li></ul><ul><li>Ming Qi China (Bejing) </li></ul><ul><li>Mortier Geert Belgium (Antwerp) </li></ul><ul><li>Morton Cynthia USA (Boston) </li></ul><ul><ul><li>Mukerji Mitali India (Delhi) </li></ul></ul><ul><ul><li>Mundlos Stefan Germany (Berlin) </li></ul></ul><ul><ul><li>Nelson Tanya Canada (Vancouver) </li></ul></ul><ul><ul><li>Nussbaum Bob USA (San Francisco) </li></ul></ul><ul><ul><li>Ostrer Harry USA (New York) </li></ul></ul><ul><ul><li>Pena Sergio Brasil (Belo Horizonte) </li></ul></ul><ul><ul><li>Petersen Michael Greece (Athens) </li></ul></ul><ul><ul><li>Pratt Vicky USA (Chantilly) </li></ul></ul><ul><ul><li>Preising Marcus Germany (Giessen) </li></ul></ul><ul><ul><li>Rehm Heidi USA (Cambridge) </li></ul></ul><ul><ul><li>Restrepo Carlos Colombia (Bogota) </li></ul></ul><ul><ul><li>Richards Sue USA (Portland) </li></ul></ul><ul><ul><li>Rogaev Evgeny Russia (Moscow) </li></ul></ul><ul><ul><li>Rouleau Guy Canada (Quebec) </li></ul></ul><ul><ul><li>Saldivar Sebastian USA (Duarte) </li></ul></ul><ul><ul><li>Scott Patrick Canada (Edmonton) </li></ul></ul><ul><ul><li>Shaffer Lisa USA (Spokane) </li></ul></ul><ul><ul><li>Sunyaev Shamil USA (Boston) </li></ul></ul><ul><ul><li>Tadmouri Ghazi UAE (Dubai) </li></ul></ul><ul><ul><li>Tavares Purita Portugal (Porto) </li></ul></ul><ul><ul><li>Tsuji Lap-Chee China (Hongkong) </li></ul></ul><ul><ul><li>Van Criekinge Wim Belgium (Ghent) </li></ul></ul><ul><ul><li>Van de Spek Peter Netherlands (Rotterdam) </li></ul></ul><ul><ul><li>Warren Steve USA (Atlanta) </li></ul></ul><ul><ul><li>Waterham Hans (The Netherlands (Amsterdam) </li></ul></ul><ul><ul><li>Willems Patrick Belgium (Antwerp) </li></ul></ul>
  51. 52. DO NOT LITTER

×