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OUR VISION

Our vision and goal is to promote the development of an interdisciplinary model of research, in order  to find therapy for CONDBA disease and other orphan diseases.
According to estimation there are in Israel  about 500.000 patients who suffer from rare diseases, and more who suffer from complex diseases.
in the USA and Europa there are 20-30 million patients.

Due to the rarity of these diseases there is little research or interest of the pharmaceutical companies , thus the patients, many of which are children , fall between the cracks in terms of accurate diagnosis and treatment.

Medicine divided to different expertises is limited in its ability to diagnose and treat patients that do not present classical symptoms or that the appearance of their disease  is a-typical.

In this journey with my daughter, from the first appearance of symptoms until the diagnosis given years after, I found that  there is a strict barrier between the bodies of knowledge, Science and Medicine.

After having discussions with many researchers, I believe that a creative interdisciplinary round table , for which scientists and physicians from obvious areas such as Genetics, Neurology and Biology, along side areas which may seem surprising such as Zoology, Cancer research , Geriatric and even Electronics - could promote innovative thinking, the kind needed for rare and common disease as well,such as Parkinson’s disease and Alzheimer’s.
Discoveries related to specific syndromes can have an immense impact upon understanding other neurodegenerative  diseases as well as upon common symptoms such as insomnia, weight problems etc.
The interdisciplinary model can be a breakthrough in terms of diagnosis , therapy and channeling of resources .
Further more we are also looking for methods of treatment that are not specific to the genetic fault but can influence the progression of the disease, the symptoms and quality of life .

RESEARCH

Students, researchers and physicians interested in being involved in interdisciplinary research of a rare and orphaned disease please

CONTACT US for more information.

FURTHER READING

 

SCIENTIFIC

Mutation in UBTF

A recurrent de novo missense mutation in UBTF causes
developmental neuroregression. 

Click here to PDF

CONDBA

CONDBA is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills.

Click here for the entire report

UBTF Gain-of-Function

Heterozygous De Novo UBTF Gain-of-Function Variant
Is Associated with Neurodegeneration in Childhood. Click here to PDF 

Childhood neurodegeneration associated with a specific UBTF variant

a new case report and review of the literature.

Click here for the report

ARTICLES

Mysterious illness receives a diagnosis

Addison Cannon, 9, of Amherst, lost her ability to speak and walk from a very aggressive deterioration in her brain that left doctors baffled. 

Click here for the entire article

Single Mutation

Scientists Notice Rare Children's Disease,

Trace to Single Mutation

The sudden onset of neurological deterioration in youngsters has now been identified as a new genetic disease caused by a single mutation.

Click here for the entire article

The new disease that affects children

Deterioration is difficult and rapid: from difficulty walking to a nursing condition that requires close care.

Doctors from Hadassah Hospital and researchers from the Hebrew University have discovered a new genetic disease

To continue the article, click here

Error in one gene 

Mysterious children's neurological disease is traced to a single error in one gene.

Click here for the entire article 

Your donation will fund initial research to find new ways to identify, treat, and cure rare diseases 

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