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.

New platform can deliver gene therapy precisely to specific areas of the brain

A novel approach to gene therapy is improving lives in ways once thought impossible. Researchers at The Ohio State University Wexner Medical Center and College of Medicine have developed a new platform to deliver the gene therapy precisely to specific areas of the brain.

18 Apr 2024

SRF announces grant to support research on SynGAP-Related Disorder in adults

The SynGAP Research Fund 501(c) today announced a grant to Dr. Danielle Andrade, Dr. Miles Thompson, Dr. Ryan Yuen, Dr. Rogier Kerssebook, and Dr. Anatoljevna Anna Kattentidt to support research on SynGAP-Related Disorder (SRD) in adults.

4 Apr 2024

New research advocates genetic screening in early onset atrial fibrillation

Although the vast majority of clinicians do not view atrial fibrillation (AF) as a genetic disorder, a White Paper in the Canadian Journal of Cardiology, published by Elsevier, analyzes the current understanding of genetics and the role of genetic testing in AF and concludes there is an increasing appreciation that genetic culprits for potentially life-threatening ventricular cardiomyopathies and channelopathies may initially present with AF.

28 Mar 2024

UH College of Pharmacy secures CPRIT funding to fight familial adenomatous polyposis

The University of Houston College of Pharmacy is included in a $68.5 million funding package from the Cancer Prevention and Research Institute of Texas (CPRIT).

11 Mar 2024

UCSF scientists discover less invasive prenatal treatment for Angelman syndrome

In a discovery that opens the door to a less invasive way of treating some serious disorders before birth, UC San Francisco scientists have found that delivering medicine through amniotic fluid is as effective as delivering it to the fetal brain via cerebrospinal fluid.

4 Mar 2024

SickKids study offers new path for pediatric rare disease clinical trials

Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research to use data from an international real-world cohort to overcome the barriers associated with conducting randomized clinical trials in children with rare diseases.

29 Feb 2024

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

Researchers from the UCLA Health Jonsson Comprehensive Cancer Center show for the first time that a gene usually linked to giant axonal neuropathy, a rare and severe neurological condition, also plays a role in inhibiting aggressive tumor cell growth in head and neck cancers.

29 Feb 2024

If you’re poor, fertility treatment can be out of reach

Mary Delgado's first pregnancy went according to plan, but when she tried to get pregnant again seven years later, nothing happened. After 10 months, Delgado, now 34, and her partner, Joaquin Rodriguez, went to see an OB-GYN.

26 Feb 2024

Never-before-documented genetic disorder causes rare lung disease

The macrophage is one of the body's most important inhabitants. Meaning "big eater" in Greek, this immune cell consumes and digests problematic elements from microbes and cancer cells to dust and debris.

8 Feb 2024

Breakthrough gene-editing therapy transforms lives of patients with a hereditary disorder

A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, according to the lead researcher.

2 Feb 2024

Engineered virus-like particles power up gene editing, correcting blindness in mice

Prime editing, a versatile form of gene editing that can correct most known disease-causing genetic mutations, now has a new vehicle to deliver its machinery into cells in living animals.

8 Jan 2024

Global study emphasizes early detection of familial hypercholesterolaemia in youth

Study on familial hypercholesterolaemia in children and adolescents from 48 countries highlights the need for early detection and management to prevent cardiovascular diseases.

17 Dec 2023

Long-term monitoring of gene therapy patients crucial for safety, study says

Medical research has shown promising results regarding the potential of gene therapy to cure genetic conditions such as sickle cell disease and the findings of this study, published in Nature Medicine, offer important new insights into processes happening in the body after treatment.

16 Nov 2023

Recaticimab injection every 1-3 months may safely lower bad cholesterol

A new PCSK9 inhibitor (recaticimab) injected every one to three months may work safely and provide more flexible dosing to lower cholesterol, according to late-breaking science presented today at the American Heart Association's Scientific Sessions 2023.

13 Nov 2023

Quick genetic test offers hope for sick, undiagnosed kids. but few insurers offer to pay.

Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

23 Oct 2023

Investigational drug restores calcium levels in rare genetic disorder

An investigational drug, encaleret, restored calcium levels in people with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic disorder marked by an imbalance of calcium in the blood and urine, as well as abnormally low levels of parathyroid hormone, which regulates blood calcium levels.

13 Oct 2023