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.

IRSF’s clinical trial committee launched to support pharmaceutical companies developing Rett syndrome treatments

The International Rett Syndrome Foundation (IRSF) announced today that its Clinical Trial Committee (CTC) has launched, having completed its first protocol review, and is available as a resource to drug developers and pharmaceutical companies planning clinical trials to treat and cure Rett syndrome.

31 May 2022

Epilepsy drug inhibits the growth of NF1 tumors in mice

People with neurofibromatosis type 1 (NF1) develop tumors on nerves throughout their bodies. These tumors are usually benign -; meaning they don't spread to other parts of the body and are not considered life-threatening -; but they can still cause serious medical problems such as blindness, especially when they form in the brain and nerves.

19 May 2022

Health screening and genetic tests may help detect people who carry a gene for familial hypercholesterolemia

Health screening and genetic tests might identify more than 1 million U.S. adults who carry a gene for familial hypercholesterolemia, a common genetic disorder that causes elevated low-density lipoprotein (LDL) cholesterol, known as "bad cholesterol," which may lead to premature heart attack or death, according to new research published today in the Journal of the American Heart Association, an open access, peer-reviewed journal of the American Heart Association.

18 May 2022

Hypermutation in children could be linked to the biological father receiving chemotherapy treatments

Some rare cases of higher genetic mutation rates in children, known as hypermutation, could be linked to the father receiving certain chemotherapy treatments, new research has found.

11 May 2022

Postnatal gene therapy may be able to prevent or reverse deadly effects of Pitt-Hopkins syndrome

UNC School of Medicine Scientists have shown for the first time that postnatal gene therapy may be able to prevent or reverse many deleterious effects of a rare genetic disorder called Pitt-Hopkins syndrome.

10 May 2022

Common subcutaneous antibody therapy for immunodeficient patients has anti-SARS-CoV-2 antibodies

Researchers at the University of Texas Medical Branch recently confirmed the presence of neutralizing antibodies to SARS--COV-2 in a common subcutaneous antibody therapy (Hizentra) used to treat immunocompromised or immunodeficient patients, citing its protective benefits to the immunocompromised patient community.

25 Apr 2022

Recent advances in non-viral nano-vector delivery of CRISPR/Cas9 genome editing payloads

Researchers reviewed non-viral nano-vectors used for delivering the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated genome editing system.

14 Apr 2022

Study identifies 10 new genetic regions linked with Brugada syndrome

A recent study published in Nature Genetics identified 10 new genetic regions associated with Brugada syndrome, a cardiac arrhythmia disorder associated with sudden death in young adults.

30 Mar 2022

Reactivating Piezo1 protein could help repair broken down, dystrophic muscles

One protein, Piezo1, is key to marshalling muscle stem cells' unique shapes and response to injuries, but it is in low supply in those with Duchenne muscular dystrophy, according to a team at the Perelman School of Medicine at the University of Pennsylvania.

18 Mar 2022

First genetic rat model of Down syndrome offers better understanding of the condition

In pursuit of better ways to test new therapies and further explore the impacts of the unique genetics associated with Down syndrome, researchers at Johns Hopkins Medicine and Tottori University in Japan have genetically engineered and characterized what is believed to be the first rat model of Down syndrome.

14 Mar 2022

Cellular therapy offers promise for patients with Duchenne muscular dystrophy, trial shows

A clinical trial at UC Davis Health and six other sites showed that a cellular therapy offers promise for patients with late-stage Duchenne muscular dystrophy (DMD), a rare genetic disorder causing muscle loss and physical impairments in young people.

10 Mar 2022

Glucocorticoid steroids improve muscle performance through distinct, sex-specific molecular pathways

Glucocorticoid steroids improved muscle performance through distinct, sex-specific molecular mechanisms in mice, according to a Northwestern Medicine study published in the Journal of Clinical Investigation.

7 Mar 2022

Scientists discover how a rare genetic disorder disrupts key neural interactions in the developing brain

Every time you chew, talk, yawn, or sense the zap of a toothache, cranial nerve cells are shuttling electrochemical signals to your brain.

23 Feb 2022

Search for a treatment to stop nerve cell degeneration yields promising results

Researchers at the University of Illinois Chicago found promising results in their search for a treatment to stop nerve cell degeneration that happens in some types of disorders, such as hereditary spastic paraplegia and Parkinson's disease, which can cause significant disability.

17 Feb 2022

New approach using RNA therapeutic can fix protein problems in cystic fibrosis

The process of generating proteins from genes is akin to a factory, where workers follow a set of instructions that, ideally, are effective and clear.

27 Jan 2022

Genetic diagnosis in cerebral palsy patients could change the approach to care

Cerebral palsy, a non-progressing motor impairment that begins in early childhood, has widely been viewed as the result of oxygen deprivation during birth or other birth-related factors such as prematurity.

25 Jan 2022

Scientists publish the most extensive description to date of WAGR syndrome

Researchers from Children's Hospital of Philadelphia (CHOP) have published the most comprehensive description to date of the rare genetic disorder known as WAGR syndrome. This new report identified several clinical issues not classically associated with the disease and provides guidance for proper diagnosis, management, and potential treatment options.

21 Dec 2021

Researchers use machine learning to shed light on genetic mutations linked with spina bifida

Weill Cornell Medicine researchers are using machine learning, a form of artificial intelligence, to shed light on genetic mutations associated with spina bifida.

20 Dec 2021

Repurposed ALS drug could slow gradual brain cell loss in Niemann-Pick disease type C1

Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type C1 (NPC1), a rare genetic disorder affecting children and adolescents, suggests a study in mice by scientists at the National Institutes of Health.

20 Nov 2021

Urothelial cancers in Lynch Syndrome patients can be detected using a simple, cheap urine test

Researchers have shown for the first time that it is possible to detect signs of urothelial cancer using a simple, postal, urine test in Lynch Syndrome (LS) patients who are at high risk of developing tumors.

11 Nov 2021