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.

Why do autistic children struggle with hidden emotions?

News-Medical speaks to Dr. Steven Stagg about his latest research into autism and how autistic children struggle to read hidden emotions.

2 Nov 2021

Famous scientist joins NYU Langone’s Division of Rheumatology

Nationally recognized for his work studying a novel inflammatory disorder known as VEXAS, David B. Beck, MD, PhD, has joined the Division of Rheumatology at NYU Langone.

18 Oct 2021

New source of stem cells could help treat people with Alagille syndrome

Researchers from Sanford Burnham Prebys have discovered a new source of stem cells just outside the liver that could help treat people living with Alagille syndrome, a rare, incurable genetic disorder in which the bile ducts of the liver are absent, leading to severe liver damage and death.

12 Oct 2021

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

Parent Project Muscular Dystrophy (PPMD), a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne), announced that the organization's Newborn Screening Pilot has successfully reached its completion, screening more than 36,000 babies born in New York State over the last two years.

8 Oct 2021

No papers, no care: Disabled migrants seek help through lawsuit, activism

Desperation led José Luis Hernández to ride atop a speeding train through northern Mexico with hopes of reaching the United States 13 years ago.

16 Sep 2021

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Albert Einstein College of Medicine has received a five-year, $5 million grant from the National Institutes of Health to support the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, which has been at the forefront of research on normal and abnormal brain development for more than 50 years.

15 Sep 2021

Experimental device offers glycemic control to hyperinsulinism patients after pancreatectomy

Researchers at Children's Hospital of Philadelphia have demonstrated that an experimental device can improve blood sugar control in patients who developed diabetes after their pancreas was removed to treat their hyperinsulinism, a genetic disease in which the pancreas produces too much insulin.

13 Sep 2021

Molecular underpinning of chronic bone infection in patients with mycobacterial disease revealed

About a quarter of the world's population is infected with tuberculosis bacteria, according to the World Health Organization, but only about 5 to 10% of those infected will develop symptoms. These pathogens are mycobacteria, which are everywhere, including in chlorine-treated tap water.

8 Sep 2021

Researchers develop a machine learning-based screening tool for genetic syndromes in children

With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, according to a study published in The Lancet Digital Health.

2 Sep 2021

Liquid biopsies could help identify, track bladder cancer and peripheral nerve tumors

Liquid biopsies detect tumor DNA in blood or urine samples. Two studies led by Washington University School of Medicine in St. Louis describe the potential of liquid biopsies to identify and track tumor growth in two very different cancers: bladder cancer and peripheral nerve tumors.

31 Aug 2021

New, one-stop method developed to avoid de novo genetic disease in embryos

De novo variants (DNVs), genetic mutations that were not previously identifiable in the family history of one of two prospective parents, may cause disease in any children they have.

31 Aug 2021

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Epilepsy is one of the most common chronic neurological diseases, affecting more than 50 million people worldwide. Although it is believed that a large proportion of childhood-onset epilepsies are caused by genetic changes, it remains unknown precisely how many of these patients suffer from a genetic disorder and how often the treatment can be targeted to their specific genetic alteration.

31 Aug 2021

Researchers develop brain organoids that show neural activity similar to living human brains

Researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have developed brain organoids -; 3D, brain-like structures grown from human stem cells -; that show organized waves of activity similar to those found in living human brains.

24 Aug 2021

Infantile sudden death associated with a de novo genetic mutation in the SOS1 gene

A previously healthy infant who suffered aborted sudden cardiac death was found to have a de novo genetic mutation in the SOS1 gene.

17 Aug 2021

Mutated enzyme impairs communication between neurons and causes motor defects in SCA34 model

In one type of a rare, inherited genetic disorder that affects control of body movement, scientists have found a mutation in an enzyme that impairs communication between neurons and what should be the inherent ability to pick up our pace when we need to run, instead of walk, across the street.

17 Aug 2021

Start codon disruption with CRISPR-Cas9 gene editing prevents Fuchs’ corneal dystrophy in mice

In a new study, researchers at the University of Oregon's Phil and Penny Knight Campus for Accelerating Scientific Impact used start codon disruption with CRISPR-Cas9 gene editing to prevent Fuchs' corneal dystrophy in mice.

3 Aug 2021

FDA's accelerated drug approval process plagued by missing efficacy data and questionable evidence

Since the US Food and Drug Administration established its accelerated approval pathway for drugs in 1992, nearly half of the 253 drugs authorized have not been confirmed as clinically effective, an investigation by The BMJ has found.

31 Jul 2021

Gene therapy shows promise in children with devastating genetic disorder

Children with a devastating genetic disorder characterized by severe motor disability and developmental delay have experienced sometimes dramatic improvements in a gene therapy trial launched at UCSF Benioff Children's Hospitals.

12 Jul 2021

Novel method of gene therapy promises to transform the treatment of rare genetic disorder

A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities.

12 Jul 2021

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

Genetic Disorder News and Research

Further Reading

Why do autistic children struggle with hidden emotions?

Famous scientist joins NYU Langone’s Division of Rheumatology

New source of stem cells could help treat people with Alagille syndrome

Parent Project Muscular Dystrophy successfully completes the Newborn Screening Pilot project

No papers, no care: Disabled migrants seek help through lawsuit, activism

Albert Einstein College of Medicine receives $5 million NIH grant for IDD research

Experimental device offers glycemic control to hyperinsulinism patients after pancreatectomy

Molecular underpinning of chronic bone infection in patients with mycobacterial disease revealed

Researchers develop a machine learning-based screening tool for genetic syndromes in children

Liquid biopsies could help identify, track bladder cancer and peripheral nerve tumors

New, one-stop method developed to avoid de novo genetic disease in embryos

Finding the genetic cause of childhood epilepsy helps improve treatment and care

Researchers develop brain organoids that show neural activity similar to living human brains

Infantile sudden death associated with a de novo genetic mutation in the SOS1 gene

Mutated enzyme impairs communication between neurons and causes motor defects in SCA34 model

Start codon disruption with CRISPR-Cas9 gene editing prevents Fuchs’ corneal dystrophy in mice

FDA's accelerated drug approval process plagued by missing efficacy data and questionable evidence

Gene therapy shows promise in children with devastating genetic disorder

Novel method of gene therapy promises to transform the treatment of rare genetic disorder

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

Genetics & Genomics - Second Edition eBook

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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