We fight to put
smiles
on children’s faces
For every rare mutation, there is an extraordinary child
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Ultra - Rare EIF3F Mutation
EIF3F-related neurodevelopmental disorder is characterized by intellectual disability, sensorineural hearing loss, epilepsy, behavioral problems, and various physical abnormalities including short stature and microcephaly.
All our patients are homozygous for c.694T>G/p.(Phe232Val) in EIF3F.
Beside variable intellectual disability in all individuals, epilepsy occurs for majority of them, as well as behavioral problems or sensorineural hearing loss in some cases, respectively.
Meet our patients
Hania
7-years old girl living in Kraków, Poland
Hanna was diagnosed as a first EIF3F case in Poland.
Kacper
3-years old boy living in Warsaw, Poland
Kacper has been struggling with developmental problems since birth.
Maciek
8-years old boy living in Wrocław, Poland
Maciek’s defect is primarily intellectual disability and poor fine motor skills.
Marta
15-years old girl living in Ruda Śląska, Poland
Since birth Marta had challenges with muscular hypotonia, which limited her development
Olek
11-years old boy living in Rogoźno, Poland
Olek suffers from drug-resistant epilepsy, autism, severe intellectual disability, nystagmus, astigmatism, he does not speak and does not signal physiological needs.
Martine
15-years old girl living in Norway
Martine was born with TGA, transposition of the great arteries, and had to undergo a heart surgery as a newborn.
Kuba F
2.5 – years old boy, Gdów.
Kuba is just over two years old, has delayed psychomotor development, low muscle tone, and impaired eye contact, yet he is very happy and cheerful.
Maja
4-years old girl living in Sochaczew, Poland
Maja has struggled with developmental problems since birth.
Kuba Sz
5- years old boy, Nowy Sącz.
Kuba was born with a hypoperfused lung and required intensive medical care from the first days of his life. He struggles with reflux, allergies, low muscle tone, and delayed motor development.
Who are we?
The non-profit organization dedicated to drive treatment development for ultra-rare neurodevelopmental disorder (OMIM #618,295: intellectual developmental disorder, autosomal recessive 67) caused by mutation in EIF3F gene.
Our aim is to improve the quality of life for affected patients and their families. We anchor our efforts on interdisciplinary and international cooperation, building and fortifying patient-scientists-clinicians partnership and sharing experience with other research foundations.
Privately we are Anna and Tomasz – parents of Hanna who is impacted by the mutation.
The foundation is registered in Kraków, Poland, however we aim to operate worldwide for all patients affected by the disorder.
Our Activities | Our Research
Our patients from Poland are under the supervision of Jagiellonian Medical University – Collegium Medicum in collaboration with other genetics in the country.
Foundation: Care and Research in Poland
This is the foundation of our work. Continuous clinical care and collaboration with Polish geneticists allow us to collect crucial data and provide patient support, which is the starting point for all international research projects.
Step 1: Creation of Induced Pluripotent Stem Cells (IPSCs)
In May 2024, we reached a milestone: we created two IPSC cell lines. These cells, produced by iXCells Biotechnologies, are a key tool for modeling disease in the laboratory and testing potential therapeutics.
Step 2: Therapy Partnership (Everlume Bio)
We have partnered with Everlume Bio to assess the disease's susceptibility to various types of therapy. Our next planned steps include creating a mouse model, CRISPR mutagenesis, and developing specific research assays.
Future: We are looking for Research Partners
We're open to collaboration! We're actively seeking researchers and institutes who want to help us create fibroblasts, brain organoids, and drug repurposing research.
Adam Keller
Ecologist
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Davis Bone
Forest Guard
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Related Publications & Research
1. Simons Searchlight: EIF3F Research and Symptom Summary
2. EIF3F – Background Data and Publications
3. EIF3F and its Potential Impact on Other Areas, Including Cancer
- Improve and sustain habitat integrity
- Prevent spread of invasive species, floods, and soil degradation
- Reducing carbon footprints
- Restore biodiversity and/ or abundance of native species
Information about our Foundation
Registered in Kraków, Poland.
Polish National Registry (Krajowy Rejestr Sadowy) number: 0001103536
Tax Identification Number (NIP): 9452291443
Want to support our Foundation?
Direct money transfer
- Name: EIF3F Research Foundation
- SWIFT: PKOPPLPW (Bank Polska Kasa Opieki Spółka Akcyjna)
- IBAN (bank account, depending on a currency):
- Polish account: 68124045461111001138447053
- Foreign accounts:
- EUR: PL94124045461978001138447079
- USD: PL37124045461787001138447082
- GBP: PL90124045461789001138447095
- Improve and sustain habitat integrity
- Prevent spread of invasive species, floods, and soil degradation
- Reducing carbon footprints
- Restore biodiversity and/ or abundance of native species
Supporting us
Want to support our Foundation?
Your support allows us to fund crucial research and work toward developing therapies for patients with EIF3F syndrome.
If you want to get engaged in research, please contact us on email eif3f.foundation@gmail.com or via contact form.
If you are a caregiver of EIF3F child – do not hesitate to write to us. In case you want to help us – it’s more than great.