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Presentation ECRD 22 june 2005: No code = no name = no existence, Presentation by Annet van Betuw about very rare chromosome disorders; the need to have a code. Deletion 11q had a name: Jacobsen Syndrome. Patients were findable because of start networks in USA and Europe. Then it was possible to start research.
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NO CODE
NO CODE, NO NAME, NO EXISTENCEAnnet van Betuw
ECRD, Luxemburg, 22 June 2005
Chromosome Help-Station
European Chromosome 11q Network
ECRD 22 June 05 Chromosome Help-Station 2
NO CODEThis presentation:
Who What can be done
Example: chromosome 11q deletion
Next steps
ECRD 22 June 05 Chromosome Help-Station 3
NO CODE No code, no name, no existence?
ECRD 22 June 05 Chromosome Help-Station 4
The European Chromosome 11q network – no code > code
At start: 11q disorders described in headlines, some articles, no code, no contacts, feeling alone
Network: 1996 USA, 1997 Europe
Partial trisomies, terminal deletions, interstitial deletions, unbalanced translocations
Persons with a very rare chromosome disorder find each other and can be found! Interesting for research.
Contact to research, conference Europe 1998, 17 families – 7 countries
50 % of members: 11q terminal deletion / Jacobsen Syndrome
ECRD 22 June 05 Chromosome Help-Station 5
11q network NEEDED: ENERGY, PEOPLE, MONEY 1998 conference financial support EU Later: companies, universities,
government, families, public health insurance
Planning, agreements, coordination Active communication Good companionship parents,
research
ECRD 22 June 05 Chromosome Help-Station 6
11q network Active
communication Jan 1997 website
www.11q.org Flyer network Newsletters Telephone E-mail
Constant support paediatrician/researcher deletion 11q
Support medical committee
Conferences Europe 1998 – 2000 – 2002 – 2004 – 2007
Reports meetings! Meetings NL 97, 2003, Spain
2004 Conferences USA 96,
98, 2000, 2004 Cooperation with
other networks Eurordis Eurochromnet
ECRD 22 June 05 Chromosome Help-Station 7
Code: Jacobsen Syndrome – 11q deletion
COOPERATION WITH RESEARCHERS SAN DIEGO (Uk, France, etc) NIJMEGEN, MAASTRICHT etc
Publications in scientific magazines > 110 persons with 11q deletion Translation into Spanish on website
Conferences show problems in daily life: sleep, behaviour, communication
ECRD 22 June 05 Chromosome Help-Station 8
Characteristics 11q deletion disorder
Loss of the end of the long arm of 11q (11q23>ter, 11q24>ter)
Possible: Heart problems Kidney problems Bleeding disorders
(Paris Trousseau)= blood platelets
Undescended testicles Infections
Short stature ‘Droopey eyes’ Low set ears Pointing forehead Learning difficulties Late speech Challenging behaviour Etc
Occurrence: 1:50.000 or 1:100.000
ECRD 22 June 05 Chromosome Help-Station 9
Practical translation into leaflet thanks to
Unique and dr Paul
Grossfeld
CODE June 2005
ECRD 22 June 05 Chromosome Help-Station 10
11q network Europe 2005: ca 75 members, 12 European
countries 50 % of known children have a terminal
deletion disorder Meeting 2004: 36 families, 11 countries, 144
people Next steps:
More knowledge needed on daily life More knowledge needed about other rare 11q
disorders Occurrence ?????
Finances
ECRD 22 June 05 Chromosome Help-Station 11
NO CODE ?
Conclusions CODE = NAME = KNOWN Recognition, knowledge, cooperation 1:1.000 births = rare chromosome
disorder Do not wait, continue networking,
start walking
ECRD 22 June 05 Chromosome Help-Station 12
Next steps rare chromosome disorders
Cooperation within Eurordis and Eurochromnet
Substantial finances Sponsors? Translators, website
Cooperation with researchers like ECARUCA
ECRD 22 June 05 Chromosome Help-Station 13
NEEDED CODES No code, no name, no existence?
ECRD 22 June 05 Chromosome Help-Station 14
(NO) CODE
THANK YOU
www.11q.orgwww.chromosomehelpstation.com
www.chromosomehelpstation.com/eurochromnet.htm