Using both CRISPR-Cas9 and base editor 3 (BE3) gene-editing tools, the team reduced cholesterol levels in healthy mice treated in utero by targeting a gene that regulates those levels. Also used prenatal gene editing to improve liver function and prevent neonatal death in a subgroup of mice that had been engineered with a mutation causing the lethal liver disease hereditary tyrosinemia type 1 (HT1).
In a study at seven hospitals across the UK and the USA, researchers found the brain scan, called magnetic resonance (MR) spectroscopy. Brain damage affects around one in 300 births in the UK, and is usually caused by oxygen deprivation.
Since it can take 5 to 7 years for a patient with a rare disease to receive an accurate diagnosis—which can be the gateway to appropriate treatments and access to life-saving clinical trials—a panel at this year’s National Organization of Rare Diseases’ Rare Diseases & Orphan Products Breakthrough Summit (NORD Summit) held in Washington, DC, delved into specific associated challenges and how providers might overcome them.
Researchers from The Rockefeller University recently uncovered the molecular mechanism which causes individuals with a rare skin condition to be susceptible to human papillomavirus (HPV).