LIVSGEN · Research map

LIVSGEN Research Map

Gene variant → disease onset → blood cell state. This is the working list of inherited and acquired gene variants we are reviewing next, and the question we want each one to answer.

Updated 22 October 202610 disease areas · 8 more under searchInfectious diseases not prioritised
The central question
Among carriers of the same variant, is there a blood cell state that separates those who develop disease from those who do not?
  1. Same gene variant
  2. Blood cell state?
  3. Develops diseaseHas not developed disease

Whether disease develops and when it develops are treated as separate questions. We do not claim that, for the candidates below, all three kinds of information — variant, blood cell state and onset — already exist for the same people over time.

Current study list

What we are studying

Showing 10 of 10

Priority 1Inherited risk variants · incomplete penetrance

Parkinson’s disease

  • GBA1
  • LRRK2
Research question

Among GBA1 and LRRK2 carriers, do blood immune-cell states differ between people who develop Parkinson’s disease and people who do not?

Focus: onset. Treatment and family relationships need to be accounted for.

Priority 1Acquired (somatic) variant

VEXAS syndrome

  • UBA1
Research question

Within the same person, how do blood cells that carry the UBA1 variant differ from cells that do not?

Focus: variant → cell state. Age, clone size and treatment are taken into account.

Priority 1Inherited gain-of-function

SAVI (STING-associated vasculopathy with onset in infancy)

  • STING1
  • also known as TMEM173
Research question

How does STING1 over-activity show up in blood cell states, including the cellular stress response?

Focus: mechanism. Effects of treatment are separated from effects of the variant.

Priority 2Repeat expansion · inherited variants

ALS / FTD

  • C9orf72
  • also exploring SOD1, TARDBP, FUS, GRN, MAPT
Research question

Do blood cell states in C9orf72 carriers differ before and after symptoms begin?

Focus: data-quality checks first. Blood data from carriers before symptoms still need to be found.

Priority 2Inherited repeat expansion

Huntington’s disease

  • HTT
  • CAG repeat length
Research question

Which blood cell states track CAG repeat length and symptom status?

Focus: mechanism reference. Findings in animal models are not used as a stand-in for onset in people.

Priority 2Inherited loss-of-function

DADA2 (deficiency of adenosine deaminase 2)

  • ADA2
Research question

Does the state of blood monocytes relate to when, and how severely, people with ADA2 variants become ill?

Focus: source review. Separate studies of the same disease are not merged into one group.

Priority 2Acquired (somatic) variants

Clonal haematopoiesis and MPN

  • DNMT3A
  • TET2
  • JAK2
  • CALR
  • MPL
Research question

Which blood cell states mark the move from clonal haematopoiesis towards blood cancer or cardiovascular disease?

Focus: a separate somatic track. Kept apart from inherited conditions; variant fraction, cell lineage and age matter most.

Priority 2Risk alleles · distinct from familial causal variants

Alzheimer’s disease risk

  • APOE
  • APP, PSEN1, PSEN2 explored separately
Research question

Among people with the same APOE genotype, do blood cell states differ by clinical stage — and, for familial variants, before symptoms begin?

Focus: supports our existing work. Carrying an APOE risk allele does not mean disease is inevitable.

Priority 3Inherited gain-of-function

STAT1 gain-of-function

  • STAT1
Research question

How do blood cell states change with treatment?

Focus: case-level reference. Repeated samples from one person are not treated as separate patients.

Priority 3Inherited · two copies (patients) or one (carriers)

Cystic fibrosis

  • CFTR
Research question

Do blood gene-expression profiles differ between patients, carrier parents and non-carriers?

Focus: supporting candidate. Lung infection strongly affects blood signals, so this stays lower priority for now.

Additional search list

Next areas we are searching

Conditions where we are still looking for suitable public blood data.

“Not yet found” does not mean no data exists, and this list does not cover every inherited condition. We keep searching disease by disease and variant by variant.

Ground rules

Before an analysis starts

  1. Linked recordsThe variant result, the person and each sample or visit are linked, and onset status and age are known.
  2. Per-person dataBlood single-cell data are analysed per donor with cell-type quality checks — cell totals are never counted as people.
  3. Fair comparisonsCarriers before onset, carriers after onset and non-carriers are compared, accounting for family, ancestry, sex, age, treatment and cell make-up.
  4. Honest timingPeople who have not developed disease yet are not labelled as never developing it. Without follow-up time, findings stay cross-sectional.
  5. Clean validationFamilies, people and visits are never split across training and testing; results are checked again in an independent group.

About this page

This is a map of research opportunities. It does not report new disease associations or patentable findings.

Only public metadata was reviewed to build it; no individual-level raw data was obtained. Research use only — not medical advice and not a test.

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