Archive
Results for Genetics
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KAIMRC Research HighlightA novel immune disorder
March 17, 2021
Mutation of a gene related to cell structure leads to immunodeficiency and hyperinflammation
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KAIMRC Research HighlightFinding the sweet spot for clinical genomics
January 27, 2021
An assessment of genome sequencing strategies reveals the most cost-effective approach for diagnosing hereditary disorders.
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International Research HighlightFinding the correct warfarin dose for Saudi patients
December 9, 2020
A pharmacogenetics study involving a cohort of Saudi recipients of the drug warfarin provides valuable insights into dosing and effectiveness
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International Research HighlightProfiling a rare genetic disorder
November 25, 2020
A deep dive into data about a rare amino acid deficiency points the way towards early diagnosis and drug discovery
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International Research HighlightPinning down a genetic cause of increased prostate cancer risk
November 4, 2020
Propensity hinges on the regulatory role of a rare genetic variant
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International Research HighlightFinding genetic leads for severe coronavirus cases
October 28, 2020
Respiratory failure in some COVID-19 patients could be associated to their genetic profile.
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International Research HighlightNew gene database to inform bespoke treatments
October 21, 2020
A global reference showing the variation of immune system genes across populations will improve personalized medicine and transplant outcomes.
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KAIMRC Research HighlightUncovering the genetic roots of metal metabolic disorders
August 12, 2020
Next-generation sequencing sheds light on genetic disorders associated with metals, paving the way to new therapeutic approaches.
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KAIMRC Research HighlightSearching for signatures of a rare disease
July 22, 2020
DNA sequencing can reveal mutations underlying a vitamin deficiency in newborns, but its rarity makes the value of population-scale testing unclear
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FeatureSearching for answers surrounding autism
February 4, 2020
Replicating a gene linked to autism in a monkey model could shed light on its underpinnings.
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KAIMRC Research HighlightMAT Deficiency: Wider effects of a rare disease
December 12, 2019
A case of a rare childhood disease reveals a new mutation as underlying cause and identifies unknown manifestations of the disease on the skin and hair.
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International Research HighlightAn instigator for immunodeficiency
December 8, 2019
A genomic survey of immunodeficient patients reveals a gene with an important role in fending off infection and controlling inflammation
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International Research HighlightWhat doesn’t kill your ancestors makes you stronger
December 1, 2019
Stressed-out fence lizards inadvertently give younger generations a better chance against predators.
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International Research HighlightSlim chance of defying genetic odds in the weight game
November 17, 2019
Staying thin may not be the result of sheer willpower. A new study shows that maintaining a healthy weight can come down to genetics.
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KAIMRC Research HighlightGene mutation associated with fertility
October 27, 2019
A mutation in a gene encoding a cell surface receptor disrupts the growth of lymphatic vessels and linked to miscarriage.
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KAIMRC Research HighlightThe many faces of a mitochondrial mutation
August 4, 2019
A rare gene mutation affecting a mitochondrial transporter could be more common than previously thought.
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International Research HighlightThe immune sting of WASp
May 12, 2019
A protein implicated in a range of immune diseases proves essential for proper T-cell development.
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KAIMRC Research HighlightNuclear protein modulates cell fate and identity
April 21, 2019
A cellular protein involved in anchoring chromosomal material to the inside of the nuclear membrane is important for determining a cell’s fate.
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KAIMRC Research HighlightMore cases of a debilitating genetic disorder
April 14, 2019
Mitochondrial DNA plays an essential role in human physiology, with devastating consequences when it is disrupted.
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KAIMRC Research HighlightMore cases of a debilitating genetic disorder
April 2, 2019
Mitochondrial DNA plays an essential role in human physiology, with devastating consequences when it is disrupted.
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FeatureScreening for an enzyme defect in newborns
February 11, 2019
Study boosts argument for cord blood screening to detect an enzyme defect in infants.
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International Research HighlightLoss of synaptic ‘caretaker’ leads to fatal infant brain injury
February 11, 2019
A rare genetic mutation that impairs communication between neurons could provide insight into Alzheimer’s and Parkinson’s.
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KAIMRC Research HighlightHIV resistance gene uncommon among Saudis
February 11, 2019
Routine screening in stem cell registries for a mutation that could help treat HIV/AIDS is not warranted in Saudi Arabia because of its rarity in this population.
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KAIMRC Research HighlightSingle gene defect found for unexplained dwarfism
February 11, 2019
Mutations in a DNA replication gene cause a rare developmental disorder seen in Saudi children.
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International Research HighlightFilling in the microbial gaps
February 10, 2019
A new survey of the microbiome offers insights into its diversity and the interplay between bacteria and their human hosts.
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KAIMRC Research HighlightCopycat mutation masquerades as multiple sclerosis
February 10, 2019
A mutation found in two Saudi brothers is believed to have led to misdiagnosing cerebellar ataxia as multiple sclerosis.
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KAIMRC Research HighlightTwenty new mutations implicated in rare genetic disease
October 3, 2017
Study finds mutations in a rare inherited disease called pyroglutamic aciduria.
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International Research HighlightDetermining the roots of derailed development
September 23, 2017
Mutational profiling allows researchers to home in on a protein domain with a critical role in human neurological development.
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International Research HighlightDemystifying a diet to live by
August 21, 2017
A new connection is found between sensory neurons, diet and longevity.
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KAIMRC Research HighlightUnderstanding the genetics of congenital heart defects
June 18, 2017
New evidence traces congenital heart defects to healthy parents.
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International Research HighlightRaising the bar for gene therapy tests
June 7, 2017
Researchers develop a strategy to improve contamination detection in gene-doping tests.
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KAIMRC Research HighlightUnravelling the mysteries ofintellectual disorders
June 4, 2017
DNA sequencing offers diagnoses and treatments for patients with unexplained intellectual disorders.
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KAIMRC Research HighlightCause found for rare amino acid disease
May 10, 2017
A young Saudi girl’s metabolic disorder can be explained by a newly discovered gene mutation.
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KAIMRC Research HighlightStrategy urged to tackle genetic disease
January 14, 2017
A high rate of inherited metabolic disorders in Saudi Arabia is prompting calls for action.
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KAIMRC Research HighlightGene ties autism and kidney issues
December 15, 2016
Mutations in the “teashirt” gene cause both an autism syndrome and kidney problems in children.
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KAIMRC Research HighlightA new player in gene regulation
December 10, 2016
The molecular mechanism controlling gene expression is found to involve a familiar molecule.
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International Research HighlightReaching for success is easier for the tall
November 30, 2016
A broad survey of British men and women suggests hereditary differences in height and weight affect prospects for socioeconomic positioning.
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International Research HighlightThe genetics of smoking behaviour and lung disease
November 29, 2016
Samples reveal specific genetic signals that determine a person’s risk for tobacco addiction and lung damage from smoking.
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KAIMRC Research HighlightUnderstanding risks of consanguineous reproduction
August 14, 2016
Saudi Arabia needs a widespread education program highlighting the genetic risks to children born as a result of marriage within families.
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KAIMRC Research HighlightStrictly confidential
August 14, 2016
Protecting confidentiality is a major priority in medical settings, crucial to the effectiveness of Saudi Arabia's newly established biobank.
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International Research HighlightThe metabolomics revolution
August 14, 2016
Understanding the body’s metabolic profile is transforming drug discovery and personalized medicine.
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KAIMRC Research HighlightFanconi anaemia may be under-diagnosed in Saudi Arabia
August 14, 2016
Genetic analysis of Saudi patients with Fanconi anaemia reveals new mutations and distinct patterns of mutation that may affect diagnosis.
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International Research HighlightTracking the effects of therapeutic genes
August 11, 2016
Targeted nanoparticles offer hope of better methods for tracking the effects of gene therapy.
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International Research HighlightLatest technique delivers CRISPR gene screens
August 11, 2016
A comparison of gene editing techniques reveals benefits of latest technology over conventional approach.
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International Research HighlightReversing immune decline
August 10, 2016
Targeting a certain gene could help promote healthy aging.
