Parkinson's Cure Journey

Genetic architecture

The lane

Status
Enabler. Tools, methods and resources that the other lanes depend on.
Verdict
Risk genes feed every other branch; most are tagged in the branch they opened.
Family
Genetics
Landmarks
25 in this lane, 24 more tagged with it. Advanced 7 · Open 14 · Dead end 4

The verdict and status come from the project's branches.yaml and use research wording.

Landmarks in this lane

25 landmarks drawn in this lane, oldest first. Select a column heading to sort.
UCHL1 I93M (PARK5)1998DiscoveryDid not hold up––19 Oct 20263
Twin study: genes matter little after age 501999DiscoveryConfirmed and built on––19 Oct 20262
MAPT (tau) H1 haplotype2000–2009DiscoveryStill being studied––19 Oct 20263
POLG mutations cause parkinsonism2004DiscoveryStill being studied––19 Oct 20263
HTRA2/Omi (PARK13) did not hold up2005–2021DiscoveryDid not hold up––20 Oct 20264
FBXO7 (PARK15) and PLA2G6 (PARK14)2008–2013DiscoveryConfirmed and built on––19 Oct 20264
GIGYF2 and EIF4G1: disputed genes2008–2015DiscoveryDid not hold up––19 Oct 20262
First GWAS: SNCA, MAPT, then 24 loci2009–2014DiscoveryConfirmed and built on––19 Oct 20262
DCTN1 mutations cause Perry syndrome2009DiscoveryConfirmed and built on––19 Oct 20263
DNAJC6 and SYNJ1: juvenile parkinsonism2012–2013DiscoveryStill being studied––19 Oct 20263
RAB39B: X-linked parkinsonism2014–2015DiscoveryStill being studied––19 Oct 20263
GCH1 variants raise risk2014DiscoveryStill being studied––19 Oct 20264
DNAJC13 and TMEM230: disputed genes2014–2021DiscoveryDid not hold up––20 Oct 20266
Polygenic risk scores and their limits2015–2019DiscoveryStill being studied––20 Oct 20264
VPS13C recessive parkinsonism2016DiscoveryStill being studied––20 Oct 20262
One faulty copy of PINK1: risk not confirmed2017–2022DiscoveryStill being studied––19 Oct 20263
LRP102018–2021DiscoveryStill being studied––20 Oct 20264
90 genetic risk signals2019DiscoveryConfirmed and built on––20 Oct 20261
Age-at-onset and progression GWAS2019–2023DiscoveryStill being studied––20 Oct 20264
LARGE-PD Latino GWAS2020–2021DiscoveryConfirmed and built on––20 Oct 20264
One faulty copy of PRKN is probably not a risk factor2020–2022DiscoveryStill being studied––20 Oct 20263
ATP10B loss-of-function raises risk2020–2025DiscoveryStill being studied––20 Oct 20263
PSAP (prosaposin) variants2020–2021DiscoveryStill being studied––20 Oct 20263
African and multi-ancestry GWAS2023–2024DiscoveryConfirmed and built on––20 Oct 20262
LRP10 and alpha-synuclein secretion2024DiscoveryStill being studied––20 Oct 20263

Also tagged with this lane

24 landmarks drawn in another lane but tagged with this one. Select a column heading to sort.
First Parkinson's gene: SNCA1997DiscoveryConfirmed and built on––19 Oct 20264
Parkin mutations cause juvenile parkinsonism1998DiscoveryConfirmed and built on––19 Oct 20262
Further SNCA point mutations1998–2013DiscoveryConfirmed and built on––19 Oct 20265
Extra copies of the synuclein gene cause Parkinson's2003DiscoveryConfirmed and built on––19 Oct 20265
DJ-1 mutations cause early-onset parkinsonism2003DiscoveryStill being studied––19 Oct 20263
The LRRK2 gene: the first gene-based drug target2004DiscoveryStill being studied––19 Oct 20260
PINK1 and the mitophagy pathway2004DiscoveryStill being studied––19 Oct 20264
SNCA duplications: ordinary-looking Parkinson's, partial penetrance2004–2009DiscoveryConfirmed and built on––19 Oct 20265
ATP13A2 and Kufor-Rakeb syndrome2006DiscoveryStill being studied––19 Oct 20263
SNCA Rep1 promoter variant raises risk2006DiscoveryConfirmed and built on––19 Oct 20262
GBA mutations: commonest genetic risk factor2009DiscoveryConfirmed and built on––19 Oct 20263
HLA-DR region GWAS signal2010DiscoveryStill being studied––19 Oct 20263
VPS35 mutation and the retromer2011DiscoveryStill being studied––19 Oct 20263
Patient-derived dopamine neurons2011Research modelConfirmed and built on––19 Oct 20263
TMEM175: a lysosome channel2014–2026DiscoveryStill being studied––19 Oct 20264
CHCHD2 (PARK22)2015DiscoveryStill being studied––20 Oct 20264
A risk variant that regulates SNCA2016DiscoveryStill being studied––20 Oct 20262
Lysosomal storage disease genes as a group raise risk2017DiscoveryConfirmed and built on––20 Oct 20263
AMP PD data platform2018–2021Research infrastructureConfirmed and built on––20 Oct 20262
ASAP and GP22019–2021Research infrastructureStill being studied––20 Oct 20266
23andMe and UK Biobank cohorts2019–2020Research infrastructureConfirmed and built on––20 Oct 20263
PD GENEration: free genetic testing2019–2024Research infrastructureStill being studied––20 Oct 20263
FOUNDIN-PD dopamine-neuron atlas2021–2023Research infrastructureConfirmed and built on––19 Oct 20265
RAB32 Ser71Arg2024DiscoveryConfirmed and built on––20 Oct 20262

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