Southern Minnesota woman believed to be the only known person with unnamed genetic disorderIris Enriquez exemplifies resilience as the only known person with her unnamed genetic disorder, teaching those around her to value life and love.
Prince Frederik of Luxembourg 'couldn't get up by himself' before death at 22, says director: 'Really painful to watch'Filmmaker Mei Fa Tan shares her poignant experience while directing a short film about Prince Frederik, who lost his battle with PolG at a young age.
Luxembourg's Prince Frederik dies of rare disease DW 03/10/2025Prince Frederik of Luxembourg died at 22 from POLG mitochondrial disease, a condition with no known treatment that causes multiple organ failure.
Prince Frederik of Luxembourg 'couldn't get up by himself' before death at 22, says director: 'Really painful to watch'Filmmaker Mei Fa Tan shares her poignant experience while directing a short film about Prince Frederik, who lost his battle with PolG at a young age.
Luxembourg's Prince Frederik dies of rare disease DW 03/10/2025Prince Frederik of Luxembourg died at 22 from POLG mitochondrial disease, a condition with no known treatment that causes multiple organ failure.
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.