Genetics Research highlights
KAIMRC Innovations highlights the most exciting research taking place at the different research centers in KAIMRC. The research highlights are informative articles that cover breakthrough research and are accessible to the wider science community and a general audience interested in science. With regular weekly updates, this is the place to keep up with the best clinical and medical research happening at KAIMRC and around the world.
KAIMRC Research Highlight
Genomic tests to help Saudis with healthy births
November 8, 2021
A new screening service offers the country’s first prenatal and pre-implantation genetic tests to pregnant women, and couples undergoing IVF
KAIMRC Research Highlight
Sequencing immune system genes for stem-cell transplant success
June 3, 2021
Sequence data from immune system genes of nearly 29,000 Saudi stem cell donors will help match them to patients.
KAIMRC Research Highlight
A key role for microglia in childhood glaucoma
May 27, 2021
The mutation in most Saudi children with primary congenital glaucoma disrupts optic nerve development through its effect on microglia
KAIMRC Research Highlight
How a single mutation causes diabetes
April 28, 2021
A single mutation shifts the expression of several genes and induces hereditary diabetes in young children
KAIMRC Research Highlight
Diverse disorders from a single source
April 21, 2021
Investigation of a complex developmental disorder gives researchers deeper insight into a multi-functional protein linked to many essential cellular processes.
KAIMRC Research Highlight
A novel immune disorder
March 17, 2021
Mutation of a gene related to cell structure leads to immunodeficiency and hyperinflammation
KAIMRC Research Highlight
Finding 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.
International Research Highlight
Finding
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
International Research Highlight
Profiling 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
International Research Highlight
Pinning down a
genetic cause of increased prostate cancer risk
November 4, 2020
Propensity hinges on the regulatory role of a rare genetic variant
International Research Highlight
Finding genetic leads
for severe coronavirus cases
October 28, 2020
Respiratory failure in some COVID-19 patients could be associated to their genetic profile.
International Research Highlight
New
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.
KAIMRC Research Highlight
Uncovering 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.
KAIMRC Research Highlight
Searching 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
Feature
Searching for answers surrounding autism
February 4, 2020
Replicating a gene linked to autism in a monkey model could shed light on its underpinnings.
KAIMRC Research Highlight
MAT 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.
International Research Highlight
An 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
International Research Highlight
What
doesn’t kill your ancestors makes you stronger
December 1, 2019
Stressed-out fence lizards inadvertently give younger generations a better chance against predators.
International Research Highlight
Slim 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.
KAIMRC Research Highlight
Gene 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.
KAIMRC Research Highlight
The many faces
of a mitochondrial mutation
August 4, 2019
A rare gene mutation affecting a mitochondrial transporter could be more common than previously thought.
International Research Highlight
The immune sting of WASp
May 12, 2019
A protein implicated in a range of immune diseases proves essential for proper T-cell development.
KAIMRC Research Highlight
Nuclear
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.
KAIMRC Research Highlight
More
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.
KAIMRC Research Highlight
More
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.
KAIMRC Research Highlight
Single gene defect found for unexplained dwarfism
February 11, 2019
Mutations in a DNA replication gene cause a rare developmental disorder seen in Saudi children.
KAIMRC Research Highlight
HIV 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.
International Research Highlight
Loss 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.
Feature
Screening for an enzyme defect in newborns
February 11, 2019
Study boosts argument for cord blood screening to detect an enzyme defect in infants.
KAIMRC Research Highlight
Copycat 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.
International Research Highlight
Filling 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.
KAIMRC Research Highlight
Twenty
new mutations implicated in rare genetic disease
October 3, 2017
Study finds mutations in a rare inherited disease called pyroglutamic aciduria.
International Research Highlight
Determining
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.
International Research Highlight
Demystifying
a diet to live by
August 21, 2017
A new connection is found between sensory neurons, diet and longevity.
KAIMRC Research Highlight
Understanding
the genetics of congenital heart defects
June 18, 2017
New evidence traces congenital heart defects to healthy parents.
International Research Highlight
Raising
the bar for gene therapy tests
June 7, 2017
Researchers develop a strategy to improve contamination detection in gene-doping tests.
KAIMRC Research Highlight
Unravelling the mysteries ofintellectual disorders
June 4, 2017
DNA sequencing offers diagnoses and treatments for patients with unexplained intellectual disorders.
KAIMRC Research Highlight
Cause
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.
KAIMRC Research Highlight
Strategy
urged to tackle genetic disease
January 14, 2017
A high rate of inherited metabolic disorders in Saudi Arabia is prompting calls for action.
KAIMRC Research Highlight
Gene
ties autism and kidney issues
December 15, 2016
Mutations in the “teashirt” gene cause both an autism syndrome and kidney problems in children.
KAIMRC Research Highlight
A
new player in gene regulation
December 10, 2016
The molecular mechanism controlling gene expression is found to involve a familiar molecule.
International Research Highlight
Reaching 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.
International Research Highlight
The 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.
KAIMRC Research Highlight
Fanconi 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.
International Research Highlight
The metabolomics
revolution
August 14, 2016
Understanding the body’s metabolic profile is transforming drug discovery and personalized medicine.
KAIMRC Research Highlight
Strictly confidential
August 14, 2016
Protecting confidentiality is a major priority in medical settings, crucial to the effectiveness of Saudi Arabia's newly established biobank.
KAIMRC Research Highlight
Understanding 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.
International Research Highlight
Latest technique
delivers CRISPR gene screens
August 11, 2016
A comparison of gene editing techniques reveals benefits of latest technology over conventional approach.
International Research Highlight
Tracking the effects of therapeutic genes
August 11, 2016
Targeted nanoparticles offer hope of better methods for tracking the effects of gene therapy.
International Research Highlight
Reversing immune decline
August 10, 2016
Targeting a certain gene could help promote healthy aging.