עמותת עלמי

About Us

ALMY foundation is a non profit organization that aims to promote a multidisciplinary scientific-medical model of collaboration of research and development of therapy to an orphan disease known as Childhood Onset Neurodegenerative Disease with Brain Atrophy – CONDBA – Caused by a rare mutation in the UBTF gene.

The foundation was established on the initiative of Adi Goldenberg-Magen Who’s daughter Elya was diagnosed after 15 years of searching for the cause of her illness.

The foundation strives to raise awareness to the existence of rare disease that medicine can’t just yet meet its needs, and to raise funds in order to support and promote research, believing a rare disease needs a rare kind of model of collaboration In order to promote the finding of cure.

?What is CONDBA

It is a severe neurological disease affecting children aged 2-7 years old.
It is a brain disease characterised with normal development during the first two years of a child’s life. Around the age of two and a half motor and cognitive developmental regression is being identified, including difficulty in walking and speech. By the age of 15-20 the child loses motor functioning ,the ability to eat independently and becomes totally dependent.

According to Prof Orly El-Peleg Head of the Department of Genetics at Hadassah Medical Center in Jerusalem and a professor of Pediatrics at the Hebrew University’s Faculty of Medicine, this is a sad disease, children who developed for several years like other children, begin one bright day to fail pronouncing the words they could use before losing their ability to walk .From functioning developed children they gradually become children with unexplained profound intellectual disability , and as the years go by reach a nursing state.

FURTHER READING

Articles and Scientific Reports

UBTF Gain-of-Function
Heterozygous De Novo UBTF Gain-of-Function Variant
Is Associated with Neurodegeneration in Childhood.
Further reading

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

Childhood neurodegeneration
associated with a specific UBTF variant

a new case report and review of the literature.
Further reading

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

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

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.
Further reading

Donations

Elya's only hope and that of millions of other children around the world who suffer from rare diseases is private initiative and funding.

Your donation will be directed to support leading minds and hearts, from the best universities, labs, and hospitals, who agreed to join this journey, we hope to extend the circle of investigation and develop simple and promising methods to bring healing and ease to the dis-ease.