Breaking News
January 18, 2019 - New study shows link between secondhand smoke and cardiac arrhythmia
January 18, 2019 - DZIF scientists reveal problems with available diagnostics for Zika and chikungunya virus
January 18, 2019 - Breast cancers more likely to metastasize in young women within 10 years of giving birth
January 18, 2019 - Blood vessels can now be created perfectly in a petri dish
January 18, 2019 - Study identifies prominent socioeconomic and racial disparities in health behavior in Indiana
January 18, 2019 - Young-Onset Type 2 Diabetes Tied to Increased Hospitalization Risk
January 18, 2019 - For-profit nursing schools associated with lower performance on nurse licensure test
January 18, 2019 - Considering the culture of consent in medicine
January 18, 2019 - Researchers identify comprehensive guidelines for managing severe atopic dermatitis
January 18, 2019 - Analyzing proteins in blister fluid may classify burn severity more accurately
January 18, 2019 - Study finds higher suicide rates among youth who were Medicaid enrollees
January 18, 2019 - Opioid drugs often overprescribed to children for pain relief, say CHOP surgeons
January 18, 2019 - New biodegradable wound dressing material accelerates healing
January 18, 2019 - Life in Space May Take Toll on Spinal Muscles
January 18, 2019 - Bulldogs’ screw tails linked to human genetic disease
January 18, 2019 - Immunotherapy target identified for pediatric cancers
January 18, 2019 - Financial stress may increase heart disease risk in African Americans
January 18, 2019 - Scientists solve another piece of Ebola virus puzzle
January 18, 2019 - New project finds how endocrine disruptors interfere with thyroid functions
January 18, 2019 - Research finds decline in ketone body utilization when coronary circulation is reduced
January 18, 2019 - Let’s map our DNA and save billions each year in health costs
January 18, 2019 - AI demonstrates potential to identify irregular heart rhythms as well as humans
January 17, 2019 - Study shows link between air pollution and increased risk of sleep apnea
January 17, 2019 - Neck-strengthening exercises can protect athletes from concussions
January 17, 2019 - Computer model shows how to better control MRSA outbreaks
January 17, 2019 - Pain is unpleasant, and now scientists have identified the set of responsible neurons
January 17, 2019 - CUIMC Celebrates 2018-2019
January 17, 2019 - Study reveals potential pathway for endothelial cells to avoid apoptosis
January 17, 2019 - Hamilton Storage launches LabElite DeCapper SL to expand LabElite product family
January 17, 2019 - Location of epigenetic changes co-locate with genetic signal causing psychartric disorder
January 17, 2019 - Researchers awarded 6.1 million euros to address female fertility problems
January 17, 2019 - Counseling appointments fail to reduce weight gain during pregnancy, shows study
January 17, 2019 - Contraceptive patch that could provide 6 months of contraception within seconds
January 17, 2019 - Yeast model may pave way for development of novel therapies for metabolic disorders
January 17, 2019 - Study determines impact of antibiotic perturbation of the gut microbiome on skeletal health
January 17, 2019 - Cardiometabolic Risk Up With Tourette, Chronic Tic Disorder
January 17, 2019 - Hong Kong scientists claim ‘broad-spectrum’ antiviral breakthrough
January 17, 2019 - Researchers discover the brain cells that make pain unpleasant | News Center
January 17, 2019 - Hepatitis Is Common in New Cancer Patients
January 17, 2019 - Podcast: KHN’s ‘What The Health?’ Drug Prices Are Rising Again. Is Someone Going To Do Something About It?
January 17, 2019 - Smoking significantly increases your biological age, study shows
January 17, 2019 - B-group vitamins may be beneficial for people with first episode psychosis
January 17, 2019 - Researchers demonstrate how manganese produces parkinsonian syndrome
January 17, 2019 - Researchers suggest link between personality type and attitude towards others’ bodies
January 17, 2019 - Mutant mice administered with cocaine failed to exhibit hyperactivity, shows study
January 17, 2019 - Health Tip: Understanding a Heart Murmur
January 17, 2019 - Gut protein mutations shield against spikes in glucose
January 17, 2019 - Engineered immune cells target broad range of pediatric solid tumors in mice | News Center
January 17, 2019 - Study provides comprehensive description of associations between mental disorders
January 17, 2019 - Study finds link between high pesticide exposure and poor sense of smell among farmers
January 17, 2019 - Many cancer patients have undiagnosed hepatitis
January 17, 2019 - New study finds only 13% of outpatient antibiotic prescriptions to be appropriate
January 17, 2019 - Stem cell-based approach to diabetes offers hope for treatment
January 17, 2019 - New project receives €8.65 million from EU and Canada to ease genomic, health data sharing
January 17, 2019 - Improvements in pharmacological study to fight cognitive impairment in schizophrenia
January 17, 2019 - Study looks at trends over time in oral antibiotic prescribing by dermatologists
January 17, 2019 - Most substance use disorder treatment facilities do not offer medication treatment
January 17, 2019 - Multiple sclerosis could benefit from stem cell therapy
January 17, 2019 - Researchers manipulate T cells to improve transplant success
January 17, 2019 - Put away your rulers and reach for your phone
January 17, 2019 - Mindfulness linked with fewer menopausal symptoms
January 17, 2019 - Integrated care to women with PMADs offered at several levels
January 17, 2019 - Researchers identify MANF as a rejuvenating factor in parabiosis
January 17, 2019 - Truncal mutations study suggests new direction in origins of cancer
January 17, 2019 - Beckman Coulter launches new ClearLLab 10C System for clinical flow cytometry lab
January 17, 2019 - Effects of linoleic acid on the body are largely dependent on genes, shows study
January 17, 2019 - Pre-injury exercise reduces damage to both muscles and nerves, study finds
January 17, 2019 - Minimizing Antibody Size to Maximize Research Potential
January 17, 2019 - Research finds large genome in tiny forest defoliator
January 17, 2019 - Technology helps reduce the yearning for unhealthy food
January 17, 2019 - Imec develops prototype cardiovascular device
January 17, 2019 - New Drug Application for Insomnia Disorder Treatment Lemborexant Submitted in the United States
January 17, 2019 - What you should know about teeth whitening
January 17, 2019 - Why Older Adults Should Eat More Protein (And Not Overdo Protein Shakes)
January 17, 2019 - Colorectal cancer mortality rates predicted to increase globally
January 17, 2019 - Scientists discover mutational signatures of tumor hypoxia
January 17, 2019 - New evidence shows how fever alters immune cells
January 17, 2019 - Researchers find new class of blood pressure-regulating peptides in vampire bat venom
January 17, 2019 - Promega to exhibit new Maxwell RSC48 platform at 2019 Festival of Genomics
January 17, 2019 - Study pinpoints immune cells that could be key to tackling hypertension
New instrument makes use of genetic and scientific data to search out the basis reason behind unexplained diseases

New instrument makes use of genetic and scientific data to search out the basis reason behind unexplained diseases

image_pdfDownload PDFimage_print
Augmented reality at your fingertips
A versatile good judgment sensor constructed from carbon nanotubes and graphene oxide motion pictures can sense humid items with out touching them. Credit score: Reproduced with permission from ref 1© 2017 WILEY‐VCH Verlag GmbH & Co

An set of rules advanced by means of Saudi Arabia’s King Abdullah College of Science and Generation (KAUST) scientists has the possible to assist sufferers with mysterious illnesses in finding genetic reasons for his or her undiagnosed illnesses.

It really works by means of first figuring out presumed destructive variants in a affected person’s genome. The set of rules then cross-references the more than a few mutations towards huge databases linking genes and signs, after which determines the possibility of any given gene variant being implicated within the affected person’s illness.

Different equipment to be had to scour the genome for destructive mutations generally tend to depend only on DNA series information. However, the KAUST workforce’s new PhenomeNET Variant Predictor (PVP) device comprises scientific data from a affected person’s clinical report as neatly. It additionally accommodates reams of phenotype information from systematic opinions of mice and zebrafish that fit DNA adjustments to illness options.

“Ours makes use of additional info than different equipment, and we search for attainable causative variants, no longer only a deleterious variant,” defined Professor Robert Hoehndorf, who led the learn about, at the side of his Ph.D. scholar Imane Boudellioua.

Of their new paper, the researchers used a retrospective dataset from the United Kingdom and the Supercomputing Laboratory at KAUST to turn that PVP appropriately known the causative gene variants chargeable for congenital hypothyroidism. Mutations in plenty of other genes are recognized to purpose the illness, resulting in an under-production by means of the thyroid gland within the neck of iodine-containing hormone wanted for standard enlargement and building. As reported, PVP pinpointed the gene variants chargeable for congenital hypothyroidism in particular person sufferers, each in series datasets that spanned all the genome and in those who integrated most effective the protein-coding portion.

Hoehndorf envisions the instrument changing into part of the scientific geneticist’s regimen. For a affected person with a suspected genetic illness, medical doctors may just series that individual’s genome, give a complete scientific workup after which run the set of rules. “PVP must have the ability to establish the variant or variants inflicting the affected person’s phenotypes (signs) at once usually,” he says.

Nonetheless, there is room for development. Hoehndorf defined that PVP can in finding pathogenic DNA variants in genes that experience already been implicated in illness, both in folks or in lab organisms; on the other hand, round two-thirds of the protein-coding genes in mice nonetheless anticipate complete characterization. Whilst extra genes were characterised in zebrafish, the evolutionary distance between fish and people (and variations in experimental protocols) makes this type of cross-species comparability more difficult.

“We desperately want extra high quality phenotype information from type organisms, particularly the mouse, to fortify our device,” Hoehndorf mentioned.


Discover additional:
Individualizing well being care one byte at a time

Equipped by means of:
King Abdullah College of Science and Generation

Tagged with:

About author

Related Articles