Autism gene breakthrough hailed

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Autism gene breakthrough hailed

Postby IBM » Mon Feb 19, 2007 2:47 pm

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Postby Milena » Mon Feb 19, 2007 7:06 pm

Articolul din linkul de mai sus ar trebui sa stea pe prima pagina, dupa opinia mea... S-a descoperit cel putin o gena clar "vinovata" de aparitia autismului. ar trebui sa stie toata lumea, ca sa nu mai existe victime colaterale diagnosticarii... parintii stiu de ce :)
Mara - aprilie 2000; diagnostic: autism infantil; alte observatii: prematur gradul III
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Postby vali » Wed Mar 07, 2007 3:09 pm

Articol din Evenimentul Zilei

Noi indicii despre autism
25 Februarie 2007


Un studiu la care au participat 120 de savanti din 19 tari a descoperit noi markeri genetici ai autismului.




Unele gene cu rol de neurotransmitatori produc un mesager chimic, glutamatul. Acesta creste activitatea neuronilor si joaca un rol important in dezvoltarea creierului. Daca glutamatul nu este transmis corect, acesta produce tulburari de dezvoltare neuronala, noteaza revista „Nature Genetics”. Studiul a fost efectuat pe 1.200 de copii autisti.
Bogdan, august 2002, TPD, a facut ABA la "Cristi's Outreach Foundation" .
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Postby shakalu » Fri Mar 09, 2007 12:03 am

milena ... cate alte descoperiri de acest tip nu ai mai citit ? ... ma refer la cromozomi , parti de cromozomi sau gene care concureaza intr-un fel sau altul la ceea ce se numeste spectrul autist . eu stiu cel putin 3 sau 4 cromozomi sau parti de cromozomi care este stabilit ca au o legatura cu autismul . din pacate nu-mi amintesc ca din vreo descoperire legata de genetica sa fi rezultat mai devreme de 10 ani orice teorie medicala ... si fara o teorie medicala fundamentata nu va aparea nici un medicament . si atunci cand un medicament va aparea mai e nevoie de cativa ani de teste ca acel medicament sa apara pe piata ... sa dau si eu un citat din articolul cu pricina ?
"Professor John Burn, of the Institute of Human Genetics at Newcastle University, said the news was fantastic.

But he cautioned: "There will almost certainly be an interaction between several genes so this one discovery doesn't provide a complete answer and may not lead straight to a genetic test but it could be a key step in development for effective treatments as it provides a target for drug development."

Dr Fred Kavalier of the British Society for Human Genetics said a cure for autism was still a long way off.

Professor Simon Baron-Cohen, director of the Autism Research Centre at Cambridge University, said independent replication of the findings was now needed"

... din pacate este o veste buna pentru parintii care peste 10-15 ani se vor confrunta cu acelasi diagnostic ... pana atunci pilula miraculoasa ramane un vis si munca ramane la fiecare parinte in parte.
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Postby vali » Tue Mar 27, 2007 7:35 am

Genetics Of Autism
Main Category: Autism News
Article Date: 26 Mar 2007 - 8:00 PDT
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Genetics


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Wouter Staal, child - and adolescent psychiatrist at the department of Psychiatry, comments:

Autism is an impairment which has a very high hereditary contribution, over 90%. Several linkage and association studies have been performed without consistent replication of data.

The different international consortia joint forces and performed a genome-wide linkage study. At the same time copy number variations (CNV's) were mapped, these are very small changes in the amount of the hereditary material.

Approximately 10% of the patients appeared to have these CNV's. This group of patients was excluded during the linkage analysis. The linkage analysis resulted in a suggestive linkage peek on the short arm of chromosome 11 (11p12-13). This area contains over 160 genes, indicating that "the gene" has not been found yet.

The next step is further analysis of the CNVs in autism patients. In collaboration with Peter Burbach, the department of Pharmacology and Anatomy, and the division Medical Genetics we will now compare CNVs in autism patients to control subjects on an even higher resolution as before.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Nature Genetics - 39, 319 - 328 (2007)
Published online: 18 February 2007; | doi:10.1038/ng1985
The Autism Genome Project Consortium
Bogdan, august 2002, TPD, a facut ABA la "Cristi's Outreach Foundation" .
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Postby vali » Wed Mar 28, 2007 11:57 am

British Prime Minister To Act On Autism
Main Category: Autism News
Article Date: 27 Mar 2007 - 0:00 PDT
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The British Prime Minister, Tony Blair has pledged to act on Autism -Leading British parliamentarian, Lee Scott MP who recently launched an important debate on Autism in Westminster Hall in the Palace of Westminster in London asked the Prime Minister a question at PriMinister's Question Time in the House of Commons on Wednesday 21st March 2007. Mr. Scott wore his autism awareness ribbon to support all people with autism - the Ilford North also mentioned the work of Ivan Corea of the Autism Awareness Campaign UK and the National Autistic Society.

The Prime Minister Tony Blair speaking in the House of Commons at PMQs said: ' Autism is a very serious issue that has to be taken seriously by our medical services and schools.' The PM has agreed to meet with Lee Scott MP and Ivan Corea.

Ivan Corea of the Autism Awareness Campaign UK said: 'I am delighted that autism was featured on Prime Minister's Question time and delighted that the Prime Minister Tony Balir views it as a serious issue.'

The Autism Awareness Campaign UK are calling on Tony Blair to undertake a 10 year program of building specialist autism schools, building autism units in mainstream primary and secondary schools, tackle the failure of some secondary schools in bringing in educational strategies to deal with autistic children in a mainstream setting, access to further education and higher education, labour market opportunities for people with autism and to tackle the whole question of bullying and autistic children, the provision of recreational activities for autistic children are among the issues they wish the Prime Minister Tony Blair to address before he leaves office in the summer.

Autism affects around 587,000 people in the UK according to the National Autistic Society.Autism may affect upto one in 100 children in the United Kingdom - the condition is now more common in the UK and numbers are rising. In ten years time there could be significant numbers of autistic children and demand will probarby outweigh supply - hence the call of autism campaigners to act now.

The Autism Awareness Campaign UK was founded in 2000 by parents Ivan and Charika Corea who have a 11 year old son, Charin who has autism spectrum disorder.

2002 Autism Awareness Year was an idea initiated by Ivan and Charika Corea - it was supported by 800 UK Organisations.
Bogdan, august 2002, TPD, a facut ABA la "Cristi's Outreach Foundation" .
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Postby Florica Stone » Thu Mar 29, 2007 3:21 pm

vali wrote:British Prime Minister To Act On Autism


Am sa cred cind vad porcii cum zboara si probabil ca, cu un pic de inginerie genetica, vom vedea porcii zburind mult mai repede!

El isi lasa postul deci poate promite. Promisiunile nu costa.
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Postby IBM » Thu Mar 29, 2007 3:30 pm

Draga Florica,

Te uiti prea mult pe Channel 4. :shock: :shock:
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Postby Florica Stone » Thu Mar 29, 2007 3:33 pm

:lol:
am studiat subiectul anul trecut
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Revista scrisorilor din trecut

Postby Florica Stone » Fri Mar 30, 2007 12:44 am

Draga IBM :lol: (am incercat sa aflu cine esti dar n-am reusit) si te chem IBM.
Am sa scriu in Engleza , pentru ca am observat ca trimiti linkuri in engleza din BBC.

3rd November 1998
letter from Buckingham Palace in responce to my request for help for our children.

Dear Mrs Cowie (ma numeam Cowie si nu Stone la vremea aceea)

I am commanded by The Queen to write and thank you for your letter in which you tell Her Majesty about a proposed treatement and education centre for autistic children in Bromley and ask if The Queen might help with funding.

Her Majesty was interested to hear of this most worthwhile project but as I am sure you will appreciate, The Queen receives many similar requests. Although she does contribute most generously, and usually without publicity, to a large number of charities and organasations, I am affraid it is just not possible for her Majesty to accede to each request.

I am, however, forwarding a copy of your letter to the Department of Health so they may know of your approach to The Queen.

Signed
Yours Sincerely
R.... E....
Lady in Waiting


-------------------

In 1998 am avut 34 de ani , am citit scrisoarea si nu am inteleso . Am inteles 'Nu te ajut' si am plins ... pina mai tirziu cind Primul nostru minister mi-a scris

The Prime Minister has asked me to thank you for your recent letter.

Mr Blair hopes you will understand , as the matters you raise are the responsibility of both the Department for Education and Employment and the Departement of Health, he has asked that your letter be forwarded to those departments so that they may reply to you direct on his behalf....


Yours sincerely

Mrs T... S....

--------------



MAI TIRZIU ... si eu invatind sa nu mai am incredere in nici un guvern sa ne ajute copii autisti sau parintii lor


Letter from the department of Health

Dear Mrs Cowie

As you know, your letter to Her Majesty the Queen has been passed to this Department. I have been asked to reply. You also wrote to Mr Dobson earlier this year about the matter and my colleague Claire White replied to that letter on 15 July.


Blah blah blah
cannot help

Yours sincerely
Angelina Gordon
Social Care Group

-----------------

Nu stiu daca vezi ce vad eu
dar 'pigs will fly ' before PM will support the autistic cause.

If you IBM live in England get in touch with me.

There are many letters, not just from me, from other parents too.
I have funded a trip around the country for AIM. THEY COLLECTED 3000 signiatures asking for help ... did they get it

guess????.. no they did not

and by the by there are no 800 org to support Autism Awarness.

want to see the original letters? come and see me

F
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Postby IBM » Thu Apr 05, 2007 4:40 pm

Draga Florica,
Te rog frumos sa accepti scuzele mele daca comentariul meu precedent a fost nela locul lui. Daca as fi stiut ca tezeste sentimente atit de puternice m-as fi abtinut.

Cu respect
IBM
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Postby Florica Stone » Thu Apr 05, 2007 4:48 pm

Nici o problema. Ca un veteran in domeniul autismului am dezvoltat un sentiment de oroare vis a vis politica si promisiuni. Poate, intr-o buna zi va fi un politician caruia ii va pasa si va avea resurse financiare sa implementeze ajutor. ..dar acest politician inca nu sa nascut.

Sarbatori fericite
Florica
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am re-inteles

Postby Florica Stone » Fri Apr 06, 2007 2:35 am

am uitat ce inseamna trezeste

mai trezit IBM
aLEX E o icoana de trezire
sau
ALEX e o icoana de trezire
spiritula
complexa
de ne-inteles

eu tot nu stiu cine esti
si lumea nu stie cine esti

si pentru prima data nu imi pasa

tu poti sa stii cine sint eu
eu nu pot sa stiu cine esti tu.

cit de mult iti pasa de autism si de ce?
te vei introduce cine esti? la toti?
autism doare
hai sa fim cinstinci!
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Postby vali » Wed Apr 11, 2007 8:09 am

Prime Minister Blair Urged To End Postcode Lottery To Autism Services By UK Autism Campaigners
Main Category: Autism News
Article Date: 07 Apr 2007 - 9:00 PDT
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The Prime Minister, Tony Blair, has been urged to end the postcode lottery to autism services by UK autism campaigners.The Autism Awareness Campaign UK are seriously concerned that a postcode lottery exists where public services are concerned - in education, health, specialist speech therapy and respite care for the 587.000 people with autism in the UK. Many struggle without access to proper public services. Some autistic children are not being given statements by local councils.Autistic children cannot get the services their children without proper statements - services they might need in order to develop their full potential.

'We are urging Prime Minister Tony Blair to end the postcode lottery to autism services. Life is a hard struggle for many parents and carers and people with autism. There are children who do not have statements and they have no access to the services they so desperately need. We are asking Tony Blair to look into the whole area of autism as a matrer of urgency, before he leaves office in the summer and formulate plans for autism - to end the suffering. Children with autism have so much potential - they have the right to an education, to health services.Equality of opportunity should embrace all people with autism and Asperger's Syndrome,' said Ivan Corea in London.

Ivan and Charika Corea set up the Autism Awareness Campaign in the United Kingdom in 2000. Since then they have been campaigning non-stop, without funding, for better public services and independent research. The UK couple have a 11 year son, Charin who was diagnosed with autism spectrum disorder. The campaign came out of the struggle to access public services for Charin.

The Autism Awareness Campaign UK are calling on the on Government to undertake a 10 year program of building specialist autism schools, building autism units in mainstream primary and secondary schools, tackle the failure of some secondary schools in bringing in educational strategies to deal with autistic children in a mainstream setting, access to further education and higher education, labour market opportunities for people with autism and to tackle the whole question of bullying and autistic children, the provision of recreational activities for autistic children. There is an urgent need for ring fenced funding for autism services in the UK.

The campaigners are calling on the UK government to make radical changes in policy. The whole issue of 'patchy services' was raised by the influential British parliamentarian, Lee Scott MP for Ilford North in a question to Prime Minister Tony Blair in Prime Minister's Questions (PMQs) on Wednesday 21st March 2007 in the House of Commons in London. Tony Blair said that Autism was a serious issue. He is poised to meet with Lee Scott MP, Ivan Corea of the Autism Awareness Campaign UK and the National Autstic Society. Lee Scott MP initiated a major debate on autism in parliament in March now regarded as one of the most important debates on public services and autism. There is huge momemtum as a result of the debate on autism in Westminster Hall.

The Autism Awareness Campaign UK are also calling on the Government to launch data a collection program across the UK to determine the exact number of people with autism. Campaigners are unsure if there is proper data collection across the UK to determine exact numbers of adults and children with autism and Asperger's Syndrome.
Bogdan, august 2002, TPD, a facut ABA la "Cristi's Outreach Foundation" .
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