Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

UWaterloo expert helps develop database repository to manage treatment for hemophilia patients

Today is World Hemophilia Day under the theme ‘Access for all: prevention of bleeds as the global standard of care’. Dr. Andrea Edginton, Hallman Director at the University of Waterloo School of Pharmacy, uses her research to help pharmacists, doctors and nurses manage treatment for hemophilia patients that has, in turn, helped these patients lead a better quality of life.

18 Apr 2023

The drug company that prospered without creating any drugs

The new drug looked so promising — except for that one warning sign.

13 Apr 2023

Research provides new insights into the underlying disease mechanisms for polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially lethal genetic disease-;about a half million people in the United States alone suffer from the condition.

4 Apr 2023

VTC professor awarded NIH grant to study a potential therapy for DiGeorge syndrome

The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain.

3 Apr 2023

Understanding the structure of CFTR could help design more effective therapies for cystic fibrosis

Scientists at St. Jude Children's Research Hospital and Rockefeller University have combined their expertise to gain a better understanding of the cystic fibrosis transmembrane conductance regulator (CFTR).

23 Mar 2023

Penn State Health expert offers insight on childhood hearing loss

Two to three out of every 1,000 children are born with permanent childhood hearing loss. And finding out who they are can be tricky, since the patients haven't yet developed the ability to tell you what's wrong.

22 Mar 2023

Researchers identify the cellular glitches underlying a rare genetic disorder

The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations that disrupt immune cell signaling through a protein called PI3K.

21 Mar 2023

Scientists identify the cause of leukemia in people with trisomy 21

People with a third copy of chromosome 21, known as trisomy 21, are at high risk of developing Acute Myeloid Leukaemia (AML), an aggressive form of blood cancer.

10 Mar 2023

Genome editing prevents hypertrophic cardiomyopathy in mice

In a recent study published in the journal PLoS Digital Health, researchers pursued one-time cures for hypertrophic cardiomyopathy (HCM). They used a previously constructed murine model of HCM, designated as R403Q-129SvEv, to evaluate two different genetic therapies, as follows:

19 Feb 2023

Genetic disorder that causes immunodeficiency and susceptibility to opportunistic infections discovered

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.

23 Jan 2023

UK set to boost genomics expertise through a landmark partnership with Thailand

UK patients will benefit from a new partnership with Thailand to share expertise of genome sequencing, collaborate in research, education and training opportunities, knowledge exchange and genomics data handling.

20 Jan 2023

Researchers develop a new approach to better understand the biology of polycystic kidney disease

A research team supported by the National Institutes of Health has developed a new approach to better understand the biology of polycystic kidney disease (PKD), an often-life-threatening genetic disorder that affects millions worldwide.

5 Jan 2023

SynGAP Research Fund awards $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences

SynGAP Research Fund (SRF), a 501(c)(3) public charity whose mission is to improve the quality of life for SYNGAP1 patients through the research and development of treatments, therapies and support systems, along with SynGAP Research Fund UK, today announced they have awarded a $180,000 grant to the University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences to advance the science around gene transfer to correct SYNGAP1 haploinsufficiency.

5 Jan 2023

Incurable liver disease could be reversed with a single drug

Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug.

4 Jan 2023

Checkerboard-like arrangement of inner ear cells vital for hearing, research reveals

A Japanese research group has become the first to reveal that the checkerboard-like arrangement of cells in the inner ear's organ of Corti is vital for hearing.

27 Dec 2022

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

For patients with sickle cell disease, fertility care is about reproductive justice

Teonna Woolford has always wanted six kids. Why six? "I don't know where that number came from. I just felt like four wasn't enough," said Woolford, a Baltimore resident. "Six is a good number."

8 Dec 2022

Previously unknown links between genetic factors in ASD identified

In a new study published today in Cell Reports, researchers from the Donald K. Johnson Eye Institute (DKJEI), part of the Krembil Research Institute at University Health Network, have identified previously unknown connections between genetic factors in Autism Spectrum Disorder (ASD).

22 Nov 2022

Treatment using CRISPR genome editing alleviates swelling attacks in hereditary angioedema patients

Hereditary angioedema (HAE) is a rare, genetic disorder characterized by severe, recurring, and unpredictable swelling attacks in various organs and tissues of the body, which can be painful, debilitating, and life-threatening.

10 Nov 2022

Transcriptomic dysregulation across cerebral cortex in autism spectrum disorder

A new study demonstrated transcriptomic dysregulation in the cerebral cortex in autism spectrum disorder (ASD).

7 Nov 2022