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.

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Scientists discuss the intricate relationship between the nervous and stomatognathic systems.

21 Aug 2023

Genome editing in the spotlight: genetic disorder carriers' views shape the conversation

Study explores perspectives on the applications of somatic genome editing.

8 Aug 2023

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

A Penn Medicine and Children's Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

1 Aug 2023

In Wisconsin, women’s health care is constricted by an 1849 law. These doctors are aghast.

The three women sitting around a table at a busy lunch spot share a grim camaraderie. It's been more than a year since an 1849 law came back into force to criminalize abortion in Wisconsin.

28 Jul 2023

Researchers develop novel system to identify new therapeutics for familial hypercholesterolemia

The Mona Lisa, painted by the Italian artist Leonardo da Vinci, is one of the most recognizable paintings in the world. But many people would be surprised to learn that this painting offers the first evidence of a disease called familial hypercholesterolemia (FH).

20 Jul 2023

Orexin is crucial to the regulation of pupil size, research shows

The way the brain regulates pupil size is different from previously thought: fundamentally responsible is the neurotransmitter orexin, as researchers at ETH Zurich have now shown.

11 Jul 2023

Whole genome sequencing shows promise for early diagnosis of genetic disorders in newborns, infants

A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.

11 Jul 2023

New hope for cystic fibrosis patients as groundbreaking treatment enters clinical trial

Clinical testing is underway for a potentially groundbreaking new treatment for cystic fibrosis. Pioneered by scientists at Carle Illinois College of Medicine at the University of Illinois Urbana-Champaign and the Carver College of Medicine at the University of Iowa in partnership with the spin-out biotechnology company, cystetic Medicines, this promising inhalable molecular prosthetic is intended to improve lung function in people with CF who cannot benefit from current therapies.

26 Jun 2023

UC researchers discover treatment for a rare cancer-like lung disease in women

A treatment for a rare cancer-like lung disease found in women of childbearing age may have been discovered by University of Cincinnati researchers.

15 Jun 2023

VLA1553 vaccine candidate for chikungunya disease produces an immune response in a phase 3 trial

The VLA1553 vaccine candidate for chikungunya disease was generally well tolerated and produced an immune response in 99% (263/266) of participants, according to a phase 3 randomized controlled trial published in The Lancet.

12 Jun 2023

So-called “orphan” drugs earn pharmaceutical companies as much money as mainstream medicines

Drugs used to treat rare conditions are earning pharmaceutical companies almost as much as those marketed to the general public, according to a researcher at West Virginia University. Sean Tu, a College of Law professor found lucrative so-called "orphan" drugs earn manufacturing tax credits, have longer patent exclusivities and face easier Food and Drug Administration review.

12 Jun 2023

Study unveils potential early detection algorithm for neurodegeneration in rare genetic disorder

Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterised by an inability to repair skin damage caused by ultraviolet (UV) light.

11 Jun 2023

New deep learning model lays the foundation for specialized diagnostic models

Mount Sinai researchers have developed an innovative artificial intelligence (AI) model for electrocardiogram (ECG) analysis that allows for the interpretation of ECGs as language. This approach can enhance the accuracy and effectiveness of ECG-related diagnoses, especially for cardiac conditions where limited data is available on which to train.

7 Jun 2023

Cure Mito Foundation releases the first-of-its-kind online resource about Leigh syndrome

The Cure Mito Foundation, a parent-led organization dedicated to advancing research and treatments for Leigh syndrome, has launched the first-of-its-kind online resource about Leigh syndrome, the most common type of pediatric mitochondrial disease.

5 Jun 2023

Alternative gene splicing can impact the risk for alcohol use disorder

Researchers at Indiana University School of Medicine have discovered alternative gene splicing, which occurs during gene expression, can impact a person's risk of alcohol use disorder (AUD).

30 May 2023

Nemours Children's Health selected to conduct first gene therapy clinical trial for Morquio A syndrome

As part of the Foundation for the National Institutes of Health Accelerating Medicines Partnership Bespoke Gene Therapy Consortium, Nemours Children's Health has been chosen to conduct a first-of-its-kind gene therapy clinical trial for Morquio A syndrome.

16 May 2023

Genetic Disorder News and Research

Further Reading

Exploring developmental pathways and disease interactions in nervous and stomatognathic systems

Genome editing in the spotlight: genetic disorder carriers' views shape the conversation

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

In Wisconsin, women’s health care is constricted by an 1849 law. These doctors are aghast.

Researchers develop novel system to identify new therapeutics for familial hypercholesterolemia

Orexin is crucial to the regulation of pupil size, research shows

Whole genome sequencing shows promise for early diagnosis of genetic disorders in newborns, infants

New hope for cystic fibrosis patients as groundbreaking treatment enters clinical trial

UC researchers discover treatment for a rare cancer-like lung disease in women

VLA1553 vaccine candidate for chikungunya disease produces an immune response in a phase 3 trial

So-called “orphan” drugs earn pharmaceutical companies as much money as mainstream medicines

Study unveils potential early detection algorithm for neurodegeneration in rare genetic disorder

New deep learning model lays the foundation for specialized diagnostic models

Cure Mito Foundation releases the first-of-its-kind online resource about Leigh syndrome

Alternative gene splicing can impact the risk for alcohol use disorder

Nemours Children's Health selected to conduct first gene therapy clinical trial for Morquio A syndrome

Targeting the hemoglobin problem in sickle cell disease using a new drug

New approach addresses the challenge of directly connecting genetic variants to human traits, health

Advanced DNA sequencing technique reveals the reason for COVID-19 related sudden child mortality

Researchers discover a key player in preventing 'insulin shock'

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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