Evidence map›Paper›PMID 26215470›Full record

ReviewBMC medical genomics2015

Genomic approaches to identifying targets for treating β hemoglobinopathies.

Duyen A Ngo, Martin H Steinberg

Open access · goldAbstract readReview
In one paragraph

Review in BMC medical genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.1field-weighted citation impact, top 13% 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

10 citing papers in PubMed, 25 citations in OpenAlex.

  1. Inheritance of Hb S and G6PD deficiency in a familiar group.Archives of medical science : AMS · 2024
    Article
  2. Review
  3. Article
  4. Review
  5. Article
  6. Review
  7. Existence of HbF Enhancer Haplotypes atBioMed research international · 2017
    Article
  8. Article
  9. Review
  10. 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

2 authors at 1 institution in 1 country.

Duyen A NgoDepartment of Medicine, Boston University School of Medicine, 820 Harrison Ave., FGH 1st Floor, Boston, MA, 02118, USA. duyen.ngo@bmc.org.
Martin H SteinbergDepartments of Medicine, Pediatrics, Pathology and Laboratory Medicine, Boston University School of Medicine, 72 E. Concord Street, Boston, MA, 02118, USA. mhsteinb@bu.edu.
Boston University · US

Funding

Genetic Modulation of Sickle Cell DiseaseR01HL068970 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI STEINBERG, MARTIN H. · 2001 to 2010
$7.0M
RESEARCH TRAINING IN BLOOD DISEASES AND RESOURCEST32HL007501 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI LERNER, ADAM, STEINBERG, MARTIN H. · 1985 to 2018
$5.4M
Boston University Clinical and Translational Science Award (CTSA) Program KL2KL2RR025770 · NCRR · BOSTON UNIVERSITY MEDICAL CAMPUS · PI CENTER, DAVID M. · 2008 to 2011
$1.3M
CCR NIH HHS RC2 L101212NCRR NIH HHS 5KL2 RR025770-04NCRR NIH HHS KL2 RR025770NHLBI NIH HHS 5 T32 HL007501NHLBI NIH HHS R01 HL068970NHLBI NIH HHS T32 HL007501
6 · The paper itself

Abstract

Sickle cell disease and β thalassemia are common severe diseases with little effective pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic approaches to identify modifiers that ultimately might be exploited therapeutically. Fetal hemoglobin (HbF) is the major modulator of the phenotype of the β hemoglobinopathies. HbF inhibits deoxyHbS polymerization and in β thalassemia compensates for the reduction of HbA. The major success of genomics has been a better understanding the genetic regulation of HbF by identifying the major quantitative trait loci for this trait. If the targets identified can lead to means of increasing HbF to therapeutic levels in sufficient numbers of sickle or β-thalassemia erythrocytes, the pathophysiology of these diseases would be reversed. The availability of new target loci, high-throughput drug screening, and recent advances in genome editing provide the opportunity for new approaches to therapeutically increasing HbF production.

Indexed as

Fetal HemoglobinGene Expression RegulationGenomicsQuantitative Trait Locibeta-ThalassemiaHumansFetal Hemoglobin

Identifiers

PMID26215470
PMCPMC4517356
OpenAlexW2144078536

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.