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Rare & Genetic Diseases
| 2 min read
Enhanced Genomics’ 3D multi-omics platform harnessed to rapidly identify multiple novel therapeutic targets that were undetectable using conventional genomic approaches
| 3 min read
Boosting UBA5 gene production normalized neuronal activity in the first organoid model of the developmental and epileptic encephalopathy.
| 8 min read
Explore how single-dose gene therapy offers a potential long-term treatment for hemophilia, and discover the challenges contributing to its low adoption.
| 6 min read
Via a unique regulatory route in the UK, scientists found that a gene therapy restored vision in young kids with a very rare and severe retinal dystrophy.
| 6 min read
Rather than permanently cutting DNA, this new kind of gene therapy instead aims to regulate gene expression using epigenetic mechanisms.
| 4 min read
The therapy lengthened telomeres and improved immune function in people with telomere biology disorder, showing promise for treating bone marrow failure safely.
| 3 min read
A new compound, Vykat XR, addresses insatiable hunger in the rare genetic condition, offering relief for patients and hope for families.
| 4 min read
In a Phase 2b trial, Khondrion’s sonlicromanol led to significant health benefits for patients with mitochondrial disease linked to a common mutation.
| 3 min read
A gene therapy targeting organs beyond the brain could improve quality of life and possibly extend survival in children with the neurodegenerative disease.
| 3 min read
An enzyme reconstructed from a three-billion-year-old bacterium widens gene editing capabilities to even more regions of the genome.
| 5 min read
Michelle Werner and her team at Alltrna are developing novel tRNA therapeutics to overwrite mutations shared by hundreds of rare genetic diseases.
| 4 min read
People and mice with ALS-linked mutations show altered sleep patterns early in life. Modifying sleep hormone levels normalized sleep cycles in mice.
