Science finds explanation for disease that leaves children frozen'Nora was diagnosed with Tango2 Deficiency Disorder after years of misdiagnosis, offering hope for her and others with rare conditions.
Mum fears daughter's rapid deterioration without drugThe NHS's potential removal of Brineura could lead to rapid deterioration in children like Beatrice Cieslik with Batten disease.
Daughter cannot walk or talk and has trouble swallowing. It took 17 years to find out whyParents struggled for 17 years to find a correct diagnosis for their daughter, ultimately identifying a genetic disorder after years of misdiagnoses.
Argentinian couple moves to US to allow their toddler to join gene therapy trialParents refused to give up despite rare disease diagnosis, traveled for gene therapy trial, showing hope and perseverance.
Gene-Based Therapy Restores Cellular Development and Function in Brain Cells From People With Timothy SyndromeA potential new therapy for Timothy syndrome shows promise in restoring typical cellular function in 3D structures created from patients' cells.
Antisense oligonucleotide therapeutic approach for Timothy syndrome - NatureTimothy 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.
Scientists uncover genetic disorder that may affect thousands around worldDiscovery of a genetic disorder with severe disabilities affecting hundreds of thousands worldwide.