High-throughput Genomics and Transcriptomics of the Human Developmental Biology Resource
Lead Research Organisation:
Newcastle University
Department Name: UNLISTED
Abstract
The Human Developmental Biology Resource (HDBR) is an on-going collection of human fetal material ranging from 3 to 20 weeks of development, jointly funded by the MRC and Wellcome Trust and hosted by Institute of Genetic Medicine, Newcastle University and Institute of Child Health, University College London (http://www.hdbr.org/). Highly specialised human materials including tissues for cell culture, RNAs from sub-organ specific regions, and slides for spatial gene expression studies are available to the international scientific community, and linked studies contribute to a growing atlas of gene expression data throughout early fetal human development. These data are made publicly available on the Human Developmental Studies Network (HuDSeN) website (www.hudsen.org), and have underpinned over 250 projects to date in research groups across the globe.
Technical Summary
The Human Developmental Biology Resource (HDBR) is an on-going collection of human fetal material ranging from 3 to 20 weeks of development, jointly funded by the MRC and Wellcome Trust and hosted by Institute of Genetic Medicine, Newcastle University and Institute of Child Health, University College London (http://www.hdbr.org/). Highly specialised human materials including tissues for cell culture, RNAs from sub-organ specific regions, and slides for spatial gene expression studies are available to the international scientific community, and linked studies contribute to a growing atlas of gene expression data throughout early fetal human development. These data are made publicly available on the Human Developmental Studies Network (HuDSeN) website (www.hudsen.org), and have underpinned over 250 projects to date in research groups across the globe. Here we aim to: (i) genetically characterise 450 of the human fetuses in the HDBR using high-density arrays to determine single nucleotide and copy number variants; and, (ii) generate forebrain transcriptome data by RNAseq from a subset of 200 where frozen tissue is available. These data will be made publically available on the HuDSeN website to enable the international research community to: (i) study the impact of the genetic variants on gene expression profiles in the developing brain; and/or (ii) access a range of fetal tissue harbouring a variant in a gene of interest to guide functional studies of a particular gene or pathway. This will provide a unique resource to evaluate genetic data being generated by several MRC resources, and advance our understanding of the developing human brain.
Organisations
People |
ORCID iD |
| Patrick Chinnery (Principal Investigator) |
Publications
Calabrese C
(2022)
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
in PLoS genetics
Carelli V
(2022)
Implications of mitochondrial DNA mutations in human induced pluripotent stem cells.
in Nature reviews. Genetics
Chiaratti MR
(2022)
Modulating mitochondrial DNA mutations: factors shaping heteroplasmy in the germ line and somatic cells.
in Pharmacological research
Chinnery P
(2022)
Precision mitochondrial medicine
in Cambridge Prisms: Precision Medicine
Gupta R
(2023)
Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
in medRxiv : the preprint server for health sciences
Kayhanian S
(2022)
Cell-Free Mitochondrial DNA in Acute Brain Injury.
in Neurotrauma reports
Kremer LS
(2023)
A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.
in PLoS genetics
Majander A
(2022)
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.
in American journal of ophthalmology
Martikainen MH
(2016)
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
in JAMA neurology
Metodiev MD
(2016)
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
in American journal of human genetics
Murley A
(2023)
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease
in Neurology Genetics
Nie Y
(2022)
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.
in Acta neuropathologica
Nightingale H
(2016)
Emerging therapies for mitochondrial disorders.
in Brain : a journal of neurology
Park J
(2022)
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
in Genetics in medicine : official journal of the American College of Medical Genetics
Schon KR
(2023)
Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics.
in Practical neurology
Steele HE
(2016)
Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study.
in Neurology
Wei W
(2022)
Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes.
in Nature
Wilson IJ
(2016)
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.
in Human molecular genetics