ADSL Deficiency Research

$10,839 of $20,000 goal

Raised by 119 people in 37 months
Hello All! We are parents of kids with  Adenylosuccinate lyase (ADSL) deficiency, a rare inborn error of metabolism.

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The disease was first described in 1984, and leads to profound developmental delay and, in up to 30% of cases, autistic features. Currently, over 30 mutations in ADSL are known to cause ADSL deficiency. The clinical picture in these individuals can vary widely, and include seizures, cortical visual impairment, hypotonia.

Some of us have lost children to ADSL... And others will do eventually....

We need YOUR HELP to raise funds to support research being conducted by Professor David Patterson, from Denver University.  Click here for more info (Info)


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6929429_1485568486.7749_funddescription.Please help us to raise USD 20,000. 

You can make a donation using GOFUNDME or by bank transfer:

For people in the United States, the bank is JPMorgan Chase
Account # 000000636550228
Account name: Eleanor Roosevelt Institute for Cancer Research
Routing number: 021000021 indicate that it is for ADSL deficiency research

For people outside the United states;
Account # 000000636550228
Account name: Eleanor Roosevelt Institute for Cancer Research
Swift code: CHASUS33 indicate that it is for ADSL deficiency research

THANK YOU!


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Hi All, Thank you all for your donations. If you want to get in touch with other parents of children with ADSL, please contact Natalie Watson on Facebook. She will add you to our closed group Our Journey with Adsl Deficiency.
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News from Professor David Patterson:

"Hello Ana and Kari and all,

We are making some exciting findings thanks to your support. We analyzed how ADSL deficiency affects the activity of over 20,000 genes. This experiment suggests two additional lines of research. One is to see whether ADSL deficiency causes cells to grow slightly more slowly than other cells. Another possibility is that ADSL deficiency may cause structural damage to cells that may make it hard for them to attach to other cells or to surfaces. We have started examining the second possibility using a new microscope that recently became available to us. We think we do see evidence for structural abnormalities. These microscope experiments were done using human ADSL deficient cells, which we recently obtained from our collaborators in Prague. These cells will allow us to easily produce human cells with any of the ADSL mutations that lead to ADSL defciency. We hope this might help us understand why some people are more severely affected than others.

I now have 3 people in addition to me working on aspects of this project.

We will have and important lab meeting next Tuesday to plan the best way forward with this research. None of this would be possible without your support. Thank you again.

Please let me know if you get this. I am not so good with Facebook.

David Patterson"
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We have heard from professor David Patterson on their research. They have great news on new findings. Please help us on giving hope to ADSL children and their family. Donate $5, $10, $15...
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Thank you all for donations we have received on Will's memory. Thank you Pirtek USA for your contribution. To us, parents of children with ADSL, It means much more than dollars donated. It means hope to our children and others to be borne, who may hold better chances to fight this awful disease.
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Read a Previous Update
Natalie Watson
27 months ago
1
1

Thank you so much to everyone who has made a donation. Your donation means so much to our lives, firstly it means that you care and that our journey has touched your heart. With each donation we gain more hope that one day soon we will find some answers that can offer a treatment or even find a cure to this disease. Thank you for taking the time to share your love. Xx

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Joanna Wartel
17 months ago

We are looking for contact other parents that have children with ADSL

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Sandra Mohan
33 months ago

Would love to find other families that have children with ADSL

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$10,839 of $20,000 goal

Raised by 119 people in 37 months
Created November 14, 2015
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CC
$100
Cristiana Colletto
14 months ago
2
2

To dear Kliemann Dutra family.

LP
$300
Lilian Panico
15 months ago
2
2

To Gabi Kliemann Dutra Love, David, Lilian, Beatriz and Henrique

CS

In memory of Arthur Kosnik, father of Cheryl Nosal, from her friends at CHS: Dennis Q, Rosemary K, Nancy R, Dee M, and Deb H.

KS
$50
Karen Soda
16 months ago

In memory of Arthur Kosnik, father of Sandy Mohan and grandfather to Sydney and Carson. Love you my friend!

CL
$50
Carm & Pat Laratonda
16 months ago

In memory of our friend, Art Kosnik in honor of his grandchildren, Sydney and Carson.

BC
$100
Benedetta Contardi
16 months ago

For Arthur Kosnik a flower.... Love to Sandra Mohan and all her family. Thanks for going on supporting Adsl deficency always.

Natalie Watson
27 months ago
1
1

Thank you so much to everyone who has made a donation. Your donation means so much to our lives, firstly it means that you care and that our journey has touched your heart. With each donation we gain more hope that one day soon we will find some answers that can offer a treatment or even find a cure to this disease. Thank you for taking the time to share your love. Xx

+ Read More
Joanna Wartel
17 months ago

We are looking for contact other parents that have children with ADSL

+ Read More
Sandra Mohan
33 months ago

Would love to find other families that have children with ADSL

+ Read More
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