EEF1A2 ResearchInitiative
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The initiative

Our story

A rare variant diagnosis arrives as a sentence with almost nothing behind it. This is what we found, and what we are trying to change.

Why this project exists

Our son was born in May 2025. He carries a heterozygous variant in EEF1A2: NM_001958.3:c.271G>A, p.Asp91Asn — D91N.

A rare variant diagnosis arrives as a sentence with almost nothing behind it. We went looking for what was known about this specific substitution and found very little: it has been reported in three individuals, it is classified as pathogenic, it disrupts function in a yeast assay, its protein levels were reduced when it was expressed in yeast, and structural modelling places it directly adjacent to the switch II helix of the protein's GTP-binding domain.

That is nearly the whole variant-specific record, and every functional result in it comes from yeast. We have found no mouse model for D91N, no patient-derived neuronal model, and no biochemical measurement of GTP binding, GTP hydrolysis or tRNA binding for this particular protein. Everything else that gets said about EEF1A2 — and a great deal is said — comes from other variants in other positions studied in other systems.

So this initiative has a narrow purpose: to help turn that short record into something a laboratory could act on, and to make the surrounding literature legible to the next family who receives the same sentence.

What we publish about our son, and what we do not

We publish the variant. That is a deliberate decision: a variant designation is what lets a researcher recognise a relevant question, and what lets another family find us. It is the one piece of information that has to be public for any of this to work.

We do not publish his clinical details. No medical records, no genetic reports, no imaging, no developmental assessments, no photographs. This is not coyness about a difficult subject — it is that these are his, and he cannot consent. A website that exists for decades should not contain a child's medical history decided on his behalf before he could speak.

What this means when you read the science pages

Nowhere on this site does a clinical description refer to our son. The clinical spectrum section reports what has been observed in groups of people in the published literature. Those cohorts were largely ascertained through severe epilepsy clinics, and the largest and most recent study found a substantially milder picture than the early literature suggested. Published ranges are not forecasts, for our son or for anyone.

What we are, and what we are not

We are a family. One of us reads the literature; we have had help from an independent collaborator with access to high-performance computing for the simulation work. We are not a laboratory, not a charity, not a registered association, and not affiliated with any university or hospital.

We think the honest version of a family-led research project is more useful than an impressive one, so a few things are stated plainly across this site:

  • The molecular dynamics investigation is running and unanalysed. It has not demonstrated a functional defect, and the analysis plan was fixed before any data were examined precisely so that it cannot be made to say one. How that works.
  • An experimental collaboration is sought, not established. We have no institutional partner.
  • Everything on the hypotheses page is labelled by how well it is supported, including the several hypotheses where our own literature search found nothing at all.
  • Nothing here is medical advice, and no part of this site recommends, implies or describes a treatment for any individual.

What would actually help

In order of how much difference it would make:

  1. A laboratory willing to look at this variant. Specifically: a group working on translation elongation, translational GTPase structural biology, or developmental and epileptic encephalopathies, who could tell us whether the D91N question is tractable and what the right first experiment is. Even a short answer that the reasoning is wrong would be worth a great deal.
  2. Correction. If you are an author of work cited here and we have mischaracterised it, please tell us. Being accurate matters more to us than being consistent.
  3. Contact from other families. Particularly anyone with the D91N variant specifically — as far as we can tell from the literature, very few individuals have been described with it.

Collaboration Supporting the work

References

Rendered from the site bibliography. Each entry states how far the source was actually read — a database record, an abstract, or the full text — because that distinction changes how much weight a citation deserves.