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.

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

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

An international research team has clarified the regulatory mechanism of the ubiquitin-proteasome system (*1) in recognizing and repairing DNA that has been damaged by ultraviolet (UV) light.

9 Dec 2020

New approach can prevent toxicity linked to neurological gene therapy

Scientists have deigned a new method to inhibit a toxicity observed in the sensory neurons of DRG following gene therapy to treat neurological diseases.

12 Nov 2020

New technology rapidly diagnoses sickle cell disease

Researchers at the University of Colorado Boulder and the University of Colorado Anschutz Medical Campus have developed a new way to diagnose diseases of the blood like sickle cell disease with sensitivity and precision and in only one minute.

16 Oct 2020

Removing copper from the blood can destroy some of the deadliest cancers

Australian researchers have discovered that removing copper from the blood can destroy some of the deadliest cancers that are resistant to immunotherapy using models of the disease.

20 Aug 2020

Genes linked to Down syndrome abnormalities may offer protection against solid tumors

Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems.

6 Aug 2020

Genetic Disorder News and Research

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

Removing copper from the blood can destroy some of the deadliest cancers

Genes linked to Down syndrome abnormalities may offer protection against solid tumors

Novel therapeutics targeting primary cilia may reverse neurodevelopmental disorders

A new cell-based gene therapy approach to correct hemophilia A

Whole genome sequencing can improve rare disease diagnosis

Dysfunctional placenta can contribute to Cornelia de Lange syndrome

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