International Research Highlight

The immune sting of WASp

A protein implicated in a range of immune diseases proves essential for proper T-cell development.

Mediscan / Alamy Stock Photo

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
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.

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.

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.

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.

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.

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
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.

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
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.

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.

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
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
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
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
Reversing immune decline

August 10, 2016

Targeting a certain gene could help promote healthy aging.

MORE