israelisches Forschungsprojekt

israeli research project

Eine Initiative von CCHS Israel und der Selbsthilfegruppe Undine Syndrom e.V.

Endlich atmen.

Durchbruch in der Undine Forschung fördern - jetzt!

Undine Patienten können nicht selbstständig atmen. Sie sind in ständiger Lebensgefahr und können schwer selbstbestimmt leben. Ein israelisch-/europäisches Mediziner-Team forscht für die Heilung.

Spenden Sie jetzt!

An initiative by CCHS Israel and the self-help group Undine Syndrom e.V.

Finally breathing.

Breakthrough in CCHS research - now!

CCHS patients cannot breathe on their own. Their life is in constant danger and it is difficult to live independently. An Israeli/ european medical team is researching for cure.

Donate now!

Das Undine Syndrom, engl. CCHS, ist eine seltene Krankheit, von dem 20 Menschen in Israel und rund 1.200 Menschen auf der ganzen Welt betroffen sind.

Das Undine Syndrom führt in erster Linie dazu, dass die Betroffenen im Schlaf nicht mehr atmen. Einige von denen, die das Undine Syndrom haben, leiden außerdem unter Atembeschwerden im Wachzustand und müssen sich 24 Stunden am Tag auf ein Beatmungsgerät verlassen. Die meisten Menschen mit dem Syndrom verwenden invasive Beatmungsgeräte und müssen sich einer Tracheotomie unterziehen.

Yad La Neshima wurde mit dem Ziel gegründet, die Erforschung des Syndroms in Israel und auf der ganzen Welt voranzutreiben und damit zu versuchen, unseren Kindern ein sicheres Leben zu ermöglichen, ohne auf ein Beatmungsgerät angewiesen zu sein und ohne dass die Gefahr ihr Leben lang über ihnen schwebt.

CCHS, also known as “Ondine's Curse,” is a rare and harsh neurological syndrome that affects 20 people in Israel and some 1,200 around the world.

The syndrome primarily causes those affected to stop breathing while they sleep. Some of those who carry CCHS also have difficulty breathing while they are awake and must rely on a respirator 24 hours a day. Most of those who have the syndrome are forced to use invasive respirators and must undergo a tracheotomy, surgery that creates a breathing hole in the neck, when they are only a few weeks old.

Yad La Neshima was created with the goal of advancing research in Israel and around the world into the syndrome and with that to try to allow our children to live securely, without relying on a respirator and without the threat to their lives hovering over them every day.


 

Unsere Forschungsprojekte:

Dr. Gad Vatine, Department of Physiology and Cell Biology, Faculty of Health Sciences and The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Israel:
A disease-in-a-dish platform to uncover the mechanisms underlying central congenital hypoventilation syndrome (CCHS), using patient-derived induced pluripotent stem cells (iPSCs)

Dr. Avraham Ashkenazi, Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Israel:
Studying the putative involvement of mutated PHOX2B in proteostasis defects of CCHS-neurons.

An international consortium including 4 researchers:

1) Dr Avital Adato, Yad La-Neshima Israeli CCHS patients Foundation

2) Prof. Christian Straus, Head of Pulmonary Function Lab, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

3) Prof Yakov Sivan, Head the National CCHS Center, Dept. of Pediatric Pulmonology, Sheba Medical Center, Ramat Gan, Israel

4) Prof Cristina Legido-Quigley, Systems Medicine, Steno Institute, Copenhagen, Denmark and Clinical Biomarkers, King’s College London

CCHS biomarkers & dysregulated biological pathways (based on multi-omics analysis that will be tested in blood and Urine of CCHS patients and controls)

Our research projects:

Dr. Gad Vatine, Department of Physiology and Cell Biology, Faculty of Health Sciences and The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Israel:
A disease-in-a-dish platform to uncover the mechanisms underlying central congenital hypoventilation syndrome (CCHS), using patient-derived induced pluripotent stem cells (iPSCs)

Dr. Avraham Ashkenazi, Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Israel:
Studying the putative involvement of mutated PHOX2B in proteostasis defects of CCHS-neurons.

An international consortium including 4 researchers:

1) Dr Avital Adato, Yad La-Neshima Israeli CCHS patients Foundation

2) Prof. Christian Straus, Head of Pulmonary Function Lab, Pitié-Salpêtrière Hospital, AP-HP, Paris, France

3) Prof Yakov Sivan, Head the National CCHS Center, Dept. of Pediatric Pulmonology, Sheba Medical Center, Ramat Gan, Israel

4) Prof Cristina Legido-Quigley, Systems Medicine, Steno Institute, Copenhagen, Denmark and Clinical Biomarkers, King’s College London

CCHS biomarkers & dysregulated biological pathways (based on multi-omics analysis that will be tested in blood and Urine of CCHS patients and controls)

 

Selbsthilfegruppe Undine Syndrom e.V

www.undine-syndrom.de
email: info@undine-syndrom.de


CCHS Israel

www.cchsisrael.org
email: maialibi@gmail.com