#genetic-disorder

[ follow ]
www.theguardian.com
1 day ago
Medicine

Argentinian couple moves to US to allow their toddler to join gene therapy trial

Parents refused to give up despite rare disease diagnosis, traveled for gene therapy trial, showing hope and perseverance. [ more ]
National Institute of Mental Health (NIMH)
3 weeks ago
Medicine

Gene-Based Therapy Restores Cellular Development and Function in Brain Cells From People With Timothy Syndrome

A potential new therapy for Timothy syndrome shows promise in restoring typical cellular function in 3D structures created from patients' cells. [ more ]
BBC News
3 months ago
Medicine

Angiodema: Gene therapy treats painful hereditary disorder

Gene therapy has been successful in treating angiodema, a genetic disorder that causes painful swelling attacks.
The single-dose gene therapy using Crispr-Cas9 showed potential as a permanent cure for angiodema and has the potential to be a treatment for other genetic conditions. [ more ]
WIRED
5 months ago
Medicine

In a World First, a Patient's Antibody Cells Were Just Genetically Engineered

Seattle-based biotech company, Immusoft, has genetically programmed a patient's B cells to treat a genetic disorder known as mucopolysaccharidosis type I (MPS I).
The patient's B cells are engineered to produce an essential enzyme that his body doesn't produce, eliminating the need for regular infusions of the enzyme. [ more ]
Nature
3 weeks ago
Data science

Antisense oligonucleotide therapeutic approach for Timothy syndrome - Nature

Timothy syndrome type 1 (TS1) is a severe genetic disorder affecting multiple organ systems and associated with neuropsychiatric conditions due to a pathogenic variant in CACNA1C. [ more ]
National Institute of Mental Health (NIMH)
4 months ago
Mental health

Researchers Expand Understanding of Genetic Mechanisms Underlying Fragile X Syndrome

Fragile X syndrome (FXS) is a genetic disorder caused by changes to the FMR1 gene.
FXS involves extensive silencing of genes that play key roles in building tissues and making the brain function properly. [ more ]
www.npr.org
6 months ago
Health

For the first time, gene-editing provides hints for lowering cholesterol

Preliminary results show that gene-editing can reduce high cholesterol levels in patients with a genetic condition.
More research is needed to confirm the safety and effectiveness of the treatment.
This could potentially provide a new way to prevent heart attacks and strokes. [ more ]
[ Load more ]