How an Ultra-Rare Disease Accelerates Aging
12 days ago
- #Progeria
- #Rare Diseases
- #Genetic Research
- Leslie Gordon and Scott Berns's son, Sam, was diagnosed with progeria, a rare and fatal condition causing rapid aging.
- Progeria affects fewer than one in four million babies, leading to symptoms like wrinkled skin, rigid arteries, and weak bones, with many dying before age 15.
- Gordon founded the Progeria Research Foundation to study the disease, connecting families and organizing scientific research.
- Francis Collins and Maria Eriksson identified the genetic mutation causing progeria—a single typo in chromosome 1.
- Sam Berns lived a happy life despite his condition, becoming a public figure through documentaries and TEDx talks before passing at 17.
- Kaylee Halko, born in 2003, benefited from early clinical trials of lonafarnib, a drug that extended progeria patients' lives by 2.5 years.
- Kaylee uses social media to share her life and raise awareness, facing both support and bullying due to her appearance.
- Gene-editing research, including CRISPR-Cas9 and base editing, offers hope for curing progeria, with promising results in mice.
- Sammy Basso, the oldest known progeria patient, advocated for research before his death at 28, emphasizing living fully despite the disease.
- The Progeria Research Foundation continues to fund studies, aiming for FDA-approved gene therapies to treat and potentially cure progeria.