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.

Innovative new approach to constructing a nose in young patients with arhinia

Congenital arhinia (meaning patients born without a nose) is a rare condition associated with high mortality if not identified.

24 Mar 2023

New genetic condition that raises vulnerability to opportunistic infections

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including life-threatening fungal pneumonia.

24 Jan 2023

Using CRISPR technology to reduce the symptoms of Huntington’s disease

A neurological condition called Huntington's disease (HD) results in a progressive decline in movement, coordination, and mental ability. It is brought on by a mutation in the huntingtin, or HTT, gene.

From UC San Diego 14 Dec 2022

Treatment using CRISPR alleviates swelling attacks in hereditary angioedema patients

Hereditary angioedema (HAE) is a rare, genetic disorder characterized by severe, recurring, and unpredictable swelling attacks in various organs and tissues of the body, which can be painful, debilitating, and life-threatening.

11 Nov 2022

Adaptive optics imaging helps visualize the pathogenesis of choroideremia

Researchers at the National Eye Institute (NEI) have demonstrated for the first time how cells across various tissue layers in the eye are impacted in individuals with choroideremia, a rare genetic disorder that causes blindness.

14 Sep 2022

Cellular therapy leads to meaningful functional improvements in DMD patients

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.

From The University of California, Davis 14 Mar 2022

A peptide could prove to be useful in stopping nerve cell degeneration

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

Researchers reverse Kleefstra syndrome after birth in a mouse model

Scientists announced the reversal of Kleefstra syndrome—a genetic disorder leading to intellectual disability.

23 Sep 2021

Novel gene therapy offers hope to children with genetic, neurodegenerative diseases

Newly devised gene therapy can help children born with AADC, a rare genetic disorder that causes developmental and physical disabilities.

13 Jul 2021

Children with rare genetic disorder experience dramatic improvements in a gene therapy trial

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.

13 Jul 2021

Study shows how mitochondrial function impacts schizophrenia in patients with genetic disorder

Researchers have demonstrated how cell “batteries” play a significant role in whether patients with the chromosomal deletion syndrome acquire schizophrenia.

20 May 2021

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Researchers have discovered a genetic cause of an unusual neurological disorder characterized by developmental delay, known as ataxia.

From University of Pittsburgh 10 May 2021

Nutritional supplement may reduce the risk of strokes caused by a 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.

24 Mar 2021

“Hidden genetic defects” can cause a variety of illnesses in children

For the first time, scientists have gained a better understanding of the “hidden genetic defects” of the general population in Europe.

22 Mar 2021

New gene editor could help treat genetic disorders caused by single-nucleotide mutations

Scientists have created a CRISPR-based gene editor named C-to-G Base Editor (CGBE) that can correct mutations responsible for genetic disorders.

15 Mar 2021

Scientists identify new drug target for treating Hutchinson-Gilford progeria syndrome

Researchers have discovered a promising treatment method for Hutchinson-Gilford progeria syndrome (HGPS)—a debilitating genetic disorder that accounts for rapid and premature aging in children.

3 Feb 2021

Scientists discover molecular defects associated with rare genetic disorder in children

Damien D'Amours and his team at the Ottawa Institute of Systems Biology needed three years to discover the molecular defects associated with the LIC Syndrome, a serious genetic disorder that affects young children and result in acute respiratory distress, immune deficiency and abnormal chromosomes.

23 Dec 2020

Genetic Disorder News and Research

Innovative new approach to constructing a nose in young patients with arhinia

New genetic condition that raises vulnerability to opportunistic infections

Using CRISPR technology to reduce the symptoms of Huntington’s disease

Treatment using CRISPR alleviates swelling attacks in hereditary angioedema patients

Adaptive optics imaging helps visualize the pathogenesis of choroideremia

Cellular therapy leads to meaningful functional improvements in DMD patients

A peptide could prove to be useful in stopping nerve cell degeneration

Researchers reverse Kleefstra syndrome after birth in a mouse model

Novel gene therapy offers hope to children with genetic, neurodegenerative diseases

Children with rare genetic disorder experience dramatic improvements in a gene therapy trial

Study shows how mitochondrial function impacts schizophrenia in patients with genetic disorder

Mutations in GEMIN5 protein can cause rare genetic disorders in children

Nutritional supplement may reduce the risk of strokes caused by a rare genetic disorder

“Hidden genetic defects” can cause a variety of illnesses in children

New gene editor could help treat genetic disorders caused by single-nucleotide mutations

Scientists identify new drug target for treating Hutchinson-Gilford progeria syndrome

Scientists discover molecular defects associated with rare genetic disorder in children

Research clarifies regulatory impacts of ubiquitin-proteasome system on DNA damage repair

New approach can prevent toxicity linked to neurological gene therapy

New technology rapidly diagnoses sickle cell disease

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