Evidence map›Paper›PMID 32977020›Full record

ReviewNeurobiology of disease2020

Functional genomics, genetic risk profiling and cell phenotypes in neurodegenerative disease.

Steven Finkbeiner

Open access · goldAbstract readReview
In one paragraph

Review in Neurobiology of disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 25% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 1 country.

Steven FinkbeinerCenter for Systems and Therapeutics, USA; Taube/Koret Center for Neurodegenerative Disease Research, Gladstone Institutes, San Francisco, CA 94158, USA; Departments of Neurology and Physiology, University of Califorina, San Francisco, CA 94158, USA. Electronic address: steve.finkbeiner@gladstone.ucsf.edu.
Taube Koret Center · US

Funding

The Psychiatric Cell Map Initiative: Connecting Genomics, Subcellular Networks, and Higher Order PhenotypesU01MH115747 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KAMPMANN, MARTIN, KROGAN, NEVAN J · 2018 to 2022
$19.6M
The proteasome in aging and neurodegenerative diseaseP01AG054407 · NIA · NORTHWESTERN UNIVERSITY · PI FINLEY, DANIEL J · 2018 to 2022
$14.0M
Neuron and Glial Cellular Signatures from Normal and Diseased iPS Cells-SupplementU54NS091046 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI FINKBEINER, STEVEN M, FRAENKEL, ERNEST · 2014 to 2020
$11.7M
Rare Variant Whole Genome Analysis and iPSC Validation of Putative Genetic Modifiers of Huntington DiseaseR37NS101996 · NINDS · J. DAVID GLADSTONE INSTITUTES · PI FINKBEINER, STEVEN M · 2017 to 2023
$4.4M
Dysfunction of the Autophagy-Lysosomal Pathway as a Common Mechanism of NeurodegenerationRF1AG058476 · NIA · J. DAVID GLADSTONE INSTITUTES · PI FINKBEINER, STEVEN M · 2017 to 2018
$4.1M
Tauopathy in AD and FTD - Molecular Determinants of Phenotypic DiversityRF1AG056151 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CARLSON, GEORGE A., DUFF, KAREN · 2017 to 2017
$4.1M
Role of central and peripheral immune crosstalk in FTD-Grn neurodegenerationRF1NS128800 · NINDS · UNIVERSITY OF FLORIDA · PI FINKBEINER, STEVEN M, TANSEY, MARIA DE LOURDES GAMEZ · 2022 to 2022
$2.4M
Retromer dysfunction in amyotrophic lateral sclerosisF31NS101966 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI PEREZ-TORRES, EDUARDO JOSE · 2017 to 2019
$111k
NIA NIH HHS P01 AG054407NIA NIH HHS RF1 AG056151NIA NIH HHS RF1 AG058476NIMH NIH HHS U01 MH115747NINDS NIH HHS F31 NS101966NINDS NIH HHS R37 NS101996NINDS NIH HHS RF1 NS128800NINDS NIH HHS U54 NS091046
6 · The paper itself

Abstract

Human genetics provides unbiased insights into the causes of human disease, which can be used to create a foundation for effective ways to more accurately diagnose patients, stratify patients for more successful clinical trials, discover and develop new therapies, and ultimately help patients choose the safest and most promising therapeutic option based on their risk profile. But the process for translating basic observations from human genetics studies into pathogenic disease mechanisms and treatments is laborious and complex, and this challenge has particularly slowed the development of interventions for neurodegenerative disease. In this review, we discuss the many steps in the process, the important considerations at each stage, and some of the latest tools and technologies that are available to help investigators translate insights from human genetics into diagnostic and therapeutic strategies that will lead to the sort of advances in clinical care that make a difference for patients.

Indexed as

PhenotypeCell DifferentiationGenetic Diseases, InbornGenomicsHumansNeurodegenerative DiseasesRisk

Identifiers

PMID32977020
PMCPMC7686089
OpenAlexW3088930214

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.