The impact of a small parental network<br />How 11q improved research, knowledge, contacts and support<br />Annet van Betu...
Content presentation<br />At start<br />Goals<br />Outcomes<br />Howdid we do it<br />Future<br />Eurordis, Krakow, 15 May...
11q: at start<br />History<br />Setting of the goal<br />Planning<br />Communication<br />Implicationsnetwork on personall...
Setting of a goal<br />Goals 11q: <br />Finding and supportingpersonswith a very rare disorder on the long arm of chromoso...
Wow, even more goals<br />Fightingagainstsocial and medicaldiscrimination<br />Organising conferences, reportingaboutit<br...
Possible disorders on 11q<br />Terminal deletion: loss of a piece at the end of 11q (JacobsenSyndrome)<br />Partialtrisomy...
Outcomes (1)<br />Notbeingaloneanymore<br />Conferences<br />Research<br /><ul><li>Specializedscientists</li></ul>Eurordis...
Outcomes (2)<br />6 international / European meetings<br />Severalnationalmeetings<br />Contact to othernetworks on rare c...
More outcomes (3)<br />Research:<br />Jacobsen, severalpublications<br />Heart gene, publication<br />11q + (ongoing)<br /...
Howdid we do it (1)<br />Website<br />E-mailing<br />Communication = personal contact<br />Consequent planning<br />Having...
Howdid we do it (2)<br />Observingourchildrenwell<br />Listeningcarefully to personalstories<br />Acknowledgement of perso...
Importance of meeting<br />Conferences: content based on personalquestions<br />Organisation: based on knowledge and exper...
Having a look at the future<br />Lessfundingfor research?<br />Stillhardlyany research for ultra ultra rare chromosomal di...
Web 2.0 ? Web 3.0 ?<br />11q startedinthe ‘web 1.0’ era: sending<br />Web 2.0 is aboutsharing, conversation<br />Whatwill ...
Thankyou<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />15<br />
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The impact of a small parental network

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How the European Chromosome 11q Network improved research, knowledge, contacts and support. Presentation workshop Expert Centres for ultra rare diseases, Eurordis Conference,15. May 2010, Krakov, Poland

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The impact of a small parental network

  1. 1. The impact of a small parental network<br />How 11q improved research, knowledge, contacts and support<br />Annet van BetuwFormer president of the EuropeanChromosome 11q Network<br />
  2. 2. Content presentation<br />At start<br />Goals<br />Outcomes<br />Howdid we do it<br />Future<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />2<br />
  3. 3. 11q: at start<br />History<br />Setting of the goal<br />Planning<br />Communication<br />Implicationsnetwork on personallife<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />3<br />
  4. 4. Setting of a goal<br />Goals 11q: <br />Finding and supportingpersonswith a very rare disorder on the long arm of chromosome 11<br />Exchanginginformation and experiences<br />Beinganeffective research base for ‘our’ scientists to obtainvalid research results<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />4<br />
  5. 5. Wow, even more goals<br />Fightingagainstsocial and medicaldiscrimination<br />Organising conferences, reportingaboutit<br />Be a model forpeopleaffectedwithother rare syndromesordiseases and to encouragethem: Youcanbesuccessfull as a smallgroup<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />5<br />
  6. 6. Possible disorders on 11q<br />Terminal deletion: loss of a piece at the end of 11q (JacobsenSyndrome)<br />Partialtrisomy: Part of a chromosome is triplicatedinstead of duplicated<br />Interstitialdeletion: Loss of a piecewithin the long arm<br />Unbalancedtranslocation: A piece of anotherchromosome is attached to chromosome 11 q<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />6<br />
  7. 7. Outcomes (1)<br />Notbeingaloneanymore<br />Conferences<br />Research<br /><ul><li>Specializedscientists</li></ul>Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />7<br />
  8. 8. Outcomes (2)<br />6 international / European meetings<br />Severalnationalmeetings<br />Contact to othernetworks on rare chromosome disorders / diseases (Eurochromnet, Eurordis) = exchange of experience and cooperation<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />8<br />
  9. 9. More outcomes (3)<br />Research:<br />Jacobsen, severalpublications<br />Heart gene, publication<br />11q + (ongoing)<br />Behaviour/sleepingproblems (ongoing)<br />Dysmorphic features (ongoing)<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />9<br />
  10. 10. Howdid we do it (1)<br />Website<br />E-mailing<br />Communication = personal contact<br />Consequent planning<br />Having a team to rely on<br />Understanding of private situation<br />Finding support fromoutstandingmedical experts<br />Having a scientific team to rely on<br />Acknowledgement of scientific research<br />Activelysupportingmedical experts<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />10<br />
  11. 11. Howdid we do it (2)<br />Observingourchildrenwell<br />Listeningcarefully to personalstories<br />Acknowledgement of personalexperience<br />Generalizingpersonalexperience<br />Bringing parental knowledge and experienceintoscientificarena<br />Parentsstaying in control of the network<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />11<br />
  12. 12. Importance of meeting<br />Conferences: content based on personalquestions<br />Organisation: based on knowledge and experience of parents<br />Givingspace to meet<br />Givingspace to discuss<br />Inviting speakers whowilladjusttheirknowledge to whatnetworkneeds<br />Children and families first, next step is research<br />Cooperation in research on strictagreement<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />12<br />
  13. 13. Having a look at the future<br />Lessfundingfor research?<br />Stillhardlyany research for ultra ultra rare chromosomal disorders?<br />Need to meet continues, more and more countries in Europejoin. Is a smallnetworkstillable to handle?<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />13<br />
  14. 14. Web 2.0 ? Web 3.0 ?<br />11q startedinthe ‘web 1.0’ era: sending<br />Web 2.0 is aboutsharing, conversation<br />Whatwill web 2.0 bring? And web 3.o?<br />Social media likeFacebookonlysuccesfullthroughactivemastering<br />New possibilities: E-health and online consulting<br />Is a smallnetworkable to handlethis? Role of Eurordis?<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />14<br />
  15. 15. Thankyou<br />Eurordis, Krakow, 15 May 2010 - Annet van Betuw<br />15<br />

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