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#GIVINGTUESDAY RARE DISEASES NALCN and UNC80
Hope and a brighter future for rare diseases CLIFAHDD and IHPRF Syndromes
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Fundación Libellas is an international, nonprofit patient advocacy organization dedicated to improving the lives of children affected by NALCN ion channel-related diseases, through research, family support programs, and education.
Children affected by mutations in the NALCN and UNC80 genetic variants have devasting symptoms and early death in severe mutations.
NALCN/UNC80-related disorders, CLIFAHDD and IHPRF1 & 2 syndromes cause a large panel of symptoms that include severe encephalopathy associated with speech impairment, intellectual disability, dysautonomia, and hypotonia, breathing abnormalities (Apneas and hypopneas), combined with non-neurological symptoms such as facial dysmorphism, cardiac arrhythmia, endocrine dysfunction, and gastrointestinal symptoms
At the moment, patients do not have effective treatment options.
With research, we have the opportunity to contribute to cutting-edge treatments.
Your donation will offer more than just HOPE to families. It will pave a path towards the cure.
VIDEO NALCN UNC80 GENETIC DISEASES
Fundación Libellas es una organización sin ánimo de lucro, dedicada al fomento y desarrollo de proyectos de investigación que redunden en beneficio de los niños afectados por mutaciones en el canal iónico NALCN. Además ofrece atención y ayuda a los pacientes y sus familiares.
NALCN es un componente crítico de la excitabilidad neuronal y está involucrado en enfermedades genéticas extremadamente raras y graves.
Los síndromes asociados a su disfunción son trastornos del neurodesarrollo que dan comienzo en la infancia:
1. Síndrome de CLIFAHDD
2. Síndrome de IHPRF tipo 1
3. Síndrome de IHPRF tipo 2
Por el momento los pacientes no tienen opciones de tratamiento efectivos. Fomentar la investigación es nuestra esperanza para una cura.
Fundación Libellas is a non-profit organization dedicated to the promotion and development of research projects that benefit children affected by mutations in the NALCN ion channel. It also offers care and help to patients and their families.
NALCN is a critical component of neuronal excitability and is involved in extremely rare and serious genetic diseases.
The syndromes associated with its dysfunction are neurodevelopmental disorders that begin in childhood:
1. CLIFAHDD syndrome
2. IHPRF syndrome type 1
3. IHPRF syndrome type 2
At the moment, patients do not have effective treatment options. Fostering research is our hope for a cure.
Donators (29)
Miguel
50€
535 days ago
35€
537 days ago
Beatriz Edda
50€
537 days ago
Beatriz Edda
50€
537 days ago
Juan Antonio
25€
541 days ago
100€
543 days ago
G
50€
543 days ago
Miguel
50€
543 days ago
50€
543 days ago
Maria
50€
543 days ago
25€
543 days ago
Soledad
Hidden donation
543 days ago
Hidden donation
543 days ago
Anonymous
150€
543 days ago
Anonymous
Hidden donation
543 days ago
Hidden donation
543 days ago
Alison Nicolson
50€
543 days ago
100€
543 days ago
Pilar
50€
543 days ago
Kay Rhodes
50€
544 days ago
Nuria
50€
544 days ago
ANA
15€
544 days ago
ANA
25€
544 days ago
Hidden donation
544 days ago
Patty
Hidden donation
544 days ago
Libellas
50€
547 days ago
Anonymous
25€
547 days ago
Anonymous
50€
547 days ago
Comments (6)
Dany
Mucha suerte Alvarito!! Aquí Dany contribuyendo
FUNDACION LIBELLAS
Querido Dany. Muchísimas gracias. Te lo agradecemos mucho.!!
Juan Antonio
Estupenda iniciativa
FUNDACION LIBELLAS
Muchas gracias Juan Antonio. Un abrazo fuerte
Paulina
Gran trabajo
FUNDACION LIBELLAS
Muchas gracias Paulina. Abrazos
Kay Rhodes
Mi amiga a Isabel xx
FUNDACION LIBELLAS
Muchas gracias Karen!!