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.

Study: Gene editing therapy for early-stage Huntington’s disease may have long-lasting benefits

In a new study on mice, Johns Hopkins Medicine researchers report that using MRI scans to measure blood volume in the brain can serve as a noninvasive way to potentially track the progress of gene editing therapies for early-stage Huntington's disease, a neurodegenerative disorder that attacks brain cells.

7 Jul 2021

Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Peptide: N-glycanase (NGLY1) is an evolutionarily conserved enzyme for removing N-linked glycans (N-glycans) from glycoproteins and is involved in proteostasis of N-glycoproteins in the cytosol. In 2012, a rare genetic disorder called NGLY1 deficiency was discovered by an exome analysis.

7 Jul 2021

$Researchers report a new genetic cause for infantile fractures$

Researchers report a new genetic cause for infantile fractures

An intrauterine fracture is a rare finding during routine prenatal imaging. This condition can be due to maternal trauma, genetic disorders of the skeleton, as well as other predisposing maternal metabolic and vascular disorders.

18 Jun 2021

Researchers find brain alterations in obese children

Obesity is generally linked to poor eating habits and the availability of tasty, high-calorie foods. However, a new study led by researchers from the Magnetic Resonance Imaging Research Unit in the Department of Radiology at Hospital del Mar and the Barcelona Institute for Global Health, a center supported by the "la Caixa" Foundation, has found that more elements are involved.

9 Jun 2021

Researchers identify new approach to clear toxic Huntingtin protein

Researchers world-wide are focused on clearing the toxic mutant Huntingtin protein that leads to neuronal cell death and systemic dysfunction in Huntington's disease (HD), a devastating, incurable, progressive neurodegenerative genetic disorder.

2 Jun 2021

Direct action of SARS-CoV-2 on organs may lead to exacerbated inflammatory response in pediatric patients

Besides common symptoms such as fever, cough and respiratory distress, some children have an atypical form of COVID-19 known as multisystem inflammatory syndrome in children (MIS-C), characterized by persistent fever and inflammation of several organs, such as the heart and intestines, as well as the lungs to a lesser extent.

1 Jun 2021

Investigational drug reduced triglycerides in patients with severe hypertriglyceridemia, acute pancreatitis

The investigational drug evinacumab reduced triglycerides in patients with severe hypertriglyceridemia (sHTG) and a history of hospitalizations for acute pancreatitis in a phase 2 global study led by Mount Sinai.

17 May 2021

Machine learning approach helps study human hypothalamus at the single-cell level

Human brain organoids are remarkable platforms for modeling features of human brain development and diseases.

11 May 2021

New compound could alleviate neurological symptoms of CHARGE syndrome

CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioural disorders for which no treatment is currently available.

28 Apr 2021

Advanced computer model could lead to improvements in 'bionic eye' technology

There are millions of people who face the loss of their eyesight from degenerative eye diseases. The genetic disorder retinitis pigmentosa alone affects 1 in 4,000 people worldwide.

9 Apr 2021

Toward a transformative therapy for sickle cell patients

For the millions of people worldwide who have sickle cell disease, there are only a few treatment options, which include risky bone marrow transplants, gene therapy or other treatments that address a subset of symptoms.

9 Apr 2021

Type 2 diabetes drug can successfully reduce symptoms associated with tuberous sclerosis complex

A team of researchers led by UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital (GOSH) has found that metformin - a drug commonly used to treat Type 2 diabetes - can successfully reduce symptoms associated with tuberous sclerosis complex (TSC), including reduction in the frequency of seizures and the size of brain tumors.

29 Mar 2021

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

Researchers from Children's Hospital of Philadelphia (CHOP) have discovered that a widely used nutritional supplement may significantly reduce the risk of fatal strokes caused by a rare genetic disorder.

23 Mar 2021

UVA researcher developing innovative gene therapy to help children with Rett syndrome

A University of Virginia School of Medicine scientist is developing an innovative gene therapy she hopes will slow disease progression and improve movement, coordination and communication in children with Rett syndrome.

17 Mar 2021

Novel CRISPR-based gene editor developed to correct mutations that cause genetic disorders

A team of researchers from the Agency for Science, Technology and Research's (A*STAR) Genome Institute of Singapore have developed a CRISPR-based gene editor, C-to-G Base Editor (CGBE), to correct mutations that cause genetic disorders.

11 Mar 2021

Gold nanocomposite contact lenses for correcting color blindness

Imagine seeing the world in muted shades -- gray sky, gray grass. Some people with color blindness see everything this way, though most can't see specific colors.

3 Mar 2021

FDA approval provides targeted treatment option for patients with rare DMD mutation

Today, the U.S. Food and Drug Administration granted approval for Amondys 45 (casimersen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping (Exons are pieces of DNA that provide information for making proteins in a person's genome).

25 Feb 2021

Genetic Disorder News and Research

Further Reading

Study: Gene editing therapy for early-stage Huntington’s disease may have long-lasting benefits

Research shows how loss of de-N-glycosylation enzyme causes detrimental effects

Researchers report a new genetic cause for infantile fractures

Researchers find brain alterations in obese children

Researchers identify new approach to clear toxic Huntingtin protein

Direct action of SARS-CoV-2 on organs may lead to exacerbated inflammatory response in pediatric patients

Investigational drug reduced triglycerides in patients with severe hypertriglyceridemia, acute pancreatitis

Machine learning approach helps study human hypothalamus at the single-cell level

New compound could alleviate neurological symptoms of CHARGE syndrome

Advanced computer model could lead to improvements in 'bionic eye' technology

Toward a transformative therapy for sickle cell patients

Type 2 diabetes drug can successfully reduce symptoms associated with tuberous sclerosis complex

Nutritional supplement may reduce risk of fatal strokes in patients with rare genetic disorder

UVA researcher developing innovative gene therapy to help children with Rett syndrome

Novel CRISPR-based gene editor developed to correct mutations that cause genetic disorders

Gold nanocomposite contact lenses for correcting color blindness

FDA approval provides targeted treatment option for patients with rare DMD mutation

Adults with Down syndrome more likely to die from COVID-19 than general population

Scientists examine DNA repair pathways and their impact on cancer evolution

Researchers elucidate mechanism by which blood and lymph vessels remain separated

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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