The medical research focuses on investigating the molecular basis
of complex human diseases, and seeks to find biomarkers that can help diagnose diseases and monitor their progress.
Further, his group pioneered expression quantitative trait locus (eQTL) studies, which enabled variation in global gene expression to be applied to genetics
of complex human diseases.
We're excited to join forces with a company that has demonstrated scientific leadership using gene discovery to address the therapeutic challenges
of complex human diseases.»
«This Prize also validates the fundamental importance of how basic biological research can inform about the origins
of complex human disease.»
Not exact matches
With our
human gut - on - a-chip, we can not only culture the normal gut microbiome for extended times, but we can also analyze contributions
of pathogens, immune cells, and vascular and lymphatic endothelium, as well as model specific
diseases to understand
complex pathophysiological responses
of the intestinal tract.»
Like many
human diseases, schizophrenia is
complex, and no single genetic or environmental factor has been identified as the cause
of the
disease.
The study has produced more than 20 publications examining a range
of complex human conditions, including cardiovascular
disease, breast and lung cancer, and type I and II diabetes.
There's also a more recent foray into the study
of complex biological systems, from the population - wide dynamics
of a
disease outbreak to the way
human bodies align their functions to a biological clock.
«One
of our killifish mutants recapitulates, but in a rapid manner, a
human disease called Dyskeratosis congenita, which is due to deficits in a
complex involved in maintaining the end
of chromosomes, or telomeres,» says lead author Dr. Itamar Harel, a postdoctoral research fellow in genetics.
«Thus, it is clear that further studies must investigate an increasingly
complex matrix
of cell types and conditions to fully understand the role
of human genetic variation in
disease.»
«If
human organs on chips can be shown to be robust and consistently recapitulate
complex human organ physiology and
disease phenotypes in unrelated laboratories around the world, as suggested by early proof -
of - concept studies, then we will see them progressively replace one animal model at a time.
His research interests include the molecular underpinnings
of cervical cancer (including developing genetic screens), the identification
of the genetic determinants
of quantitative traits in
humans, and the application
of massively parallel sequencing technology for understanding the genetics
of complex disease.
Suspecting that the
disease works differently in
humans, whose brains are much bigger and more
complex than those
of lab animals, Brivanlou, along with research associates Albert Ruzo and Gist Croft, developed a cell - based
human system for their research.
This essentially gives us «barcodes»
of specific gene loci, which we can use to help untangle the
complex genetics
of complex diseases,» said Andrey Rzhetsky, PhD, professor
of genetic medicine and
human genetics at the University
of Chicago, who led the study.
«The parts
of the
human genome linked to
complex diseases such as heart
disease, cancer and neurological disorders can often be far away from the genes they regulate, so it can be dificult to figure out which gene is being affected and ultimately causing the
disease.»
This work illustrates how the study
of inbred canine populations can provide new insights into the genetic underpinnings
of complex disease, bridging the gap between small rodent models and
humans.
«Aberrant splicing in
humans may lead to various
complex diseases and also underlies the development
of some forms
of cancer and the onset
of neurodegenerative
diseases, so a better understanding
of the process can add important information for our fight against these
diseases.»
In
humans, the cerebellum's extensive connectivity with the rest
of the brain suggests it does far more than learn motor skills: it has been shown to have a part in both perception and cognition, with recent work linking cerebellar dysfunction to such
complex diseases as schizophrenia and autism.
«We can't start talking about improved treatments for Maya because diabetes is a very
complex disease, involving lots
of yet unknown risk factors, says Teresa Tusié Luna, a
human geneticist who studies diabetes at the Salvador Zubirán National Institute
of Health Sciences and Nutrition in Mexico City.
The Search for Extraterrestrial Intelligence has always looked for an anomaly in the persistent cosmic background chatter — a change perhaps in the intensity
of a signal that can be taken as a sign that a transmission might be a message to us earthlings from other intelligent beings.Each year, medical researchers who gather at the Alzheimer's Association International Conference search for something similar as they weigh reports
of the
complex biology
of the
human brain for some sign that a drug might actually change the relentless course
of the
disease.
«We think that by restoring the natural «microbial identity»
of laboratory mice, we will improve the modeling
of complex diseases of free - living mammals, which includes
humans and their
diseases,» said Barbara Rehermann, M.D., senior author
of the paper.
This tool, which associates genetic mutations with various
complex diseases, was presented in the journal Nature Methods and has been included in the international consortium Pan-Cancer for the analysis
of human tumours.
The purpose
of this perspective, then, is to provide a logical argument for a new approach to classifying
human disease that both appreciates the uses and limits
of reductionism and incorporates the tenets
of the non ‐ reductionist approach
of complex systems analysis.
Researchers at the Broad are working to gain a complete understanding
of this
complex biological circuitry and how it functions in
human health and
disease.
«We hypothesized that this might explain why laboratory mice, while paramount for understanding basic biological phenomena, are limited in their predictive utility for modeling
complex diseases of humans and other free - living mammals,» said Rosshart.
«It is important to note that depression is a very
complex disease and also defined in the context
of modern
human societies, so we certainly can't say that our ancestors or Neanderthals were depressed in the modern sense.
Thus, neural derivatives
of disease - specific
human pluripotent stem cells constitute a relevant biological resource for exploring the impact
of adult - onset HD mutations
of the HTT gene on the division
of neural progenitors, with potential applications in HD drug discovery targeting HTT - dynein - p150Glued
complex interactions.
«This is exciting news for all researchers working to understand the
complex underpinnings
of human biology in health and
disease.
[NEWS, 4 June 2013] Protein microarrays, representing more than one third
of all
human proteins, provide a unique possibility to study
complex autoimmune
diseases, such as multiple sclerosis (MS).
Investigators in the CRGGH will develop genetic epidemiology models that will explore the patterns and determinants
of common
complex diseases in populations in the United States and other
human populations around the world.
I study many traits and
diseases of complex genetic background, ranging from autism and obsessive compulsive disorders in
humans to cancer and behavioral disorders in dogs.
He and the Vereide Group grow precursors
of human arterial cells, build colonies
of dendritic cells (cells which can alert the rest
of the immune system to the presence
of a tumor), and use chick embryos to study the formation
of early tissue layers for a possible future in which
complex tissues, or even organs, can be grown to replace
diseased, wounded, or malfunctioning ones.
ANN ARBOR, Mich — By combining engineered polymeric materials known as hydrogels with
complex intestinal tissue known as organoids — made from
human pluripotent stem cells — researchers have taken an important step toward creating a new technology for controlling the growth
of these organoids and using them for treating wounds in the gut that can be caused by disorders such as inflammatory bowel
disease (IBD).
This study
of human genetic variation and its relationship to health and
disease involves a large number
of study participants and will capture not only common single nucleotide variations but also rare copy number and structural variants that are increasingly thought to play an important role in
complex disease.
The
Human Emulation System creates an environment where cells exhibit an unprecedented level of biological function, and gives researchers the ability to control complex human biology and disease mechanisms that is not possible with other techni
Human Emulation System creates an environment where cells exhibit an unprecedented level
of biological function, and gives researchers the ability to control
complex human biology and disease mechanisms that is not possible with other techni
human biology and
disease mechanisms that is not possible with other techniques.
Our in vitro study provides a baseline for defining healthy and
disease - like states and highlights the power
of moving beyond single and dual species applications to capture key players and their orchestrated metabolic activities within a
complex human oral microbiome model.
We advocate instead to embrace the complexity and have developed approaches that allow us to uncover the underlying causes
of human diseases no matter how
complex.
«Historically, we have had trouble modeling
human diseases caused by mutation
of just one copy
of a gene in mice, which impedes research on
complex conditions and limits our discovery
of therapeutics,» explained Srivastava, director
of the Gladstone Institute
of Cardiovascular
Disease and senior author on the study.
While this is a much more
complex and daunting undertaking, by understanding the functions and network interactions
of genes and proteins — both
human and microbe — we will ultimately gain far greater insight into
human health and reveal more solutions to dread
diseases.
Dr. Berghout received her PhD in Biochemistry from McGill University in Montreal, QC where she researched the genetics
of complex traits and susceptibility to infectious
disease in
humans and mouse models.
Not so long ago, there was a hope in the research community that common genetic variation, i.e. variants present at minor allele frequencies > 5 % in
human populations, might explain most or all
of the heritability
of common
complex disease.
This technology creates an environment where the cells exhibit an unprecedented level
of biological function, and provides control
of complex human biology and
disease mechanisms not possible with existing techniques.
Biomedcode offers preclinical testing using
complex mouse models closely recapitulating the complexity
of human disease as they also exhibit co-developing pathologies also observed in
human patients.
For custom gene expression projects the Genomics Core has a platform that uses sets
of human and mouse custom arrays whose probe content is aimed at gene expression studies in the areas
of cancer, immunology and other
complex diseases.
Dr Panos Deloukas, whose research interest lies in coronary artery
disease and myocardial infarction and leads the Genetics
of Complex Traits in
Humans Group, is ranked at joint fifth after contributing to 10
of the influential papers.
The
complex viromes
of different
human as well as wild and domesticated animal populations are also characterized to allow future changes associated with
disease outbreak to be rapidly identified.
Her laboratory focuses on (1) the use
of next generation sequencing to define the microbiome and host immunologic features in patients with
human diseases and (2) developing custom computational tools for the identification
of novel
human commensals and pathogens in these inpatient populations, and (3) using statistical and functional biological methods to understand the
complex interplay between the
human microbiome and host biology.
Abbreviations: Aβ, amyloid β - peptide; AD, Alzheimer's
disease; ALS, amyotrophic lateral sclerosis; Ambra1, activating molecule in Beclin -1-regulated autophagy; AMPK, AMP - activated protein kinase; APP, amyloid precursor protein; AR, androgen receptor; Atg, autophagy - related; AV, autophagic vacuole; Bcl, B - cell lymphoma; BH3, Bcl - 2 homology 3; CaMKKβ, Ca2 + - dependent protein kinase kinase β; CHMP2B, charged multivesicular body protein 2B; CMA, chaperone - mediated autophagy; 2 ′ 5 ′ ddA, 2 ′, 5 ′ - dideoxyadenosine; deptor, DEP - domain containing mTOR - interacting protein; DRPLA, dentatorubral pallidoluysian atrophy; 4E - BP1, translation initiation factor 4E - binding protein - 1; Epac, exchange protein directly activated by cAMP; ER, endoplasmic reticulum; ERK1 / 2, extracellular - signal - regulated kinase 1/2; ESCRT, endosomal sorting
complex required for transport; FAD, familial AD; FDA, U.S. Food and Drug Administration; FIP200, focal adhesion kinase family - interacting protein
of 200 kDa; FoxO3, forkhead box O3; FTD, frontotemporal dementia; FTD3, FTD linked to chromosome 3; GAP, GTPase - activating protein; GR, guanidine retinoid; GSK3, glycogen synthase kinase 3; HD, Huntington's
disease; hiPSC,
human induced pluripotent stem cell; hVps, mammalian vacuolar protein sorting homologue; IKK, inhibitor
of nuclear factor κB kinase; IMPase, inositol monophosphatase; IP3R, Ins (1,4,5) P3 receptor; I1R, imidazoline - 1 receptor; JNK1, c - Jun N - terminal kinase 1; LC3, light chain 3; LD, Lafora
disease; L - NAME, NG - nitro - L - arginine methyl ester; LRRK2, leucine - rich repeat kinase 2; MIPS, myo - inositol -1-phosphate synthase; mLST8, mammalian lethal with SEC13 protein 8; MND, motor neuron
disease; mTOR, mammalian target
of rapamycin; mTORC, mTOR
complex; MVB, multivesicular body; NAC, N - acetylcysteine; NBR1, neighbour
of BRCA1 gene 1; NOS, nitric oxide synthase; p70S6K, ribosomal protein S6 kinase - 1; PD, Parkinson's
disease; PDK1, phosphoinositide - dependent kinase 1; PE, phosphatidylethanolamine; PI3K, phosphoinositide 3 - kinase; PI3KC1a, class Ia PI3K; PI3KC3, class III PI3K; PI3KK, PI3K - related protein kinase; PINK1, PTEN - induced kinase 1; PKA, protein kinase A; PLC, phospholipase C; polyQ, polyglutamine; PS, presenilin; PTEN, phosphatase and tensin homologue deleted from chromosome 10; Rag, Ras - related GTP - binding protein; raptor, regulatory - associated protein
of mTOR; Rheb, Ras homologue enriched in brain; rictor, rapamycin - insensitive companion
of mTOR; SBMA, spinobulbar muscular atrophy; SCA, spinocerebellar ataxia; SLC, solute carrier; SMER, small - molecule enhancer
of rapamycin; SMIR, small - molecule inhibitor
of rapamycin; SNARE, N - ethylmaleimide - sensitive factor - attachment protein receptor; SOD1, copper / zinc superoxide dismutase 1; TFEB, transcription factor EB; TOR, target
of rapamycin; TSC, tuberous sclerosis
complex; ULK1, UNC -51-like kinase 1; UVRAG, UV irradiation resistance - associated gene; VAMP, vesicle - associated membrane protein; v - ATPase, vacuolar H + - ATPase; Vps, vacuolar protein sorting
•
Disease - driving pathways that involve the
human immune system are often targeted by antibodies, and Organ - Chips recreate
complex interactions
of different
human cell types and aspects
of the
human immune system, overcoming limitations
of animal models which do not reflect all
human immune cells.
The proteome
of human brain synapses is highly
complex and is mutated in over 130
diseases.