NALCN. THE FOUNDATION. Fundación Libellas; Newsletter June 2020

See the PDF link with our Goals, Research projects, the Patronate and the NALCN Research Committee.

https://fundacionlibellas.org/wp-content/uploads/2020/07/Newsletter-june-2020.-Libellas-presentation-1.pdf

 

The International Libellas Foundation is a nonprofit patient advocacy organization
dedicated to improving the lives of children affected by NALCN ion channel-related
diseases, through research support, family support programs, and
education.

WE FOCUS ON NALCN-RELATED DISEASES
NALCN (for Sodium leak channel) is a protein involved in electrical activity of several cell types including neurons.
Mutations of NALCN and its partner UNC-80 in human beings are responsible for ultra-rare and severe genetic diseases.
These diseases are referred to as Infantile Hypotonia with Psychomotor Retardation and characteristic Facies type 1 (39 patients from 24 families) and type 2 (32 patients from 21 families) and as Congenital Contractures of LImbs and FAce, Hypotonia and Developmental Delay (CLIFAHDD; 38 patients).
Patients exhibit a large panel of symptoms including premature death in some cases.
There is no therapeutics identified to date

Our goals are:

To provide support and funding for research focused on NALCN-related diseases.
To promote advocacy for families and patients with diseases induced by
mutations of NALCN.
To be a link between patients, doctors, and researchers.

The support to research projects focus on 3 priorities:
 The development and the use of animal and cellular models to study NALCN function/dysfunction.
 The identification of innovative therapeutics to treat patients suffering from NALCN-related disorders. It includes the identification of molecules with therapeutical interest as well as gene therapy-based approaches.
The clinical studies aiming at characterizing symptoms in patients.

The Libellas foundation gives its best to bring help and hope to everyone in the global NALCN Community and we
are hoping you will join and help us to fulfill our mission.
Your commitment will support scientific research. It is easy and so impactful. It provides an opportunity for you to
help shape the future for our entire community.

                                                     https://fundacionlibellas.org/donate/

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