- In May 2024, A research team at a leading university announced promising preclinical results for a novel therapeutic approach targeting the enzyme deficiency in Smith-Lemli-Opitz Syndrome. The study highlighted the potential of a new compound to improve cholesterol biosynthesis and alleviate some of the key symptoms of the disorder.
- In February 2024, several patient advocacy groups collaborated to launch a global initiative aimed at increasing awareness of Smith-Lemli-Opitz Syndrome and improving access to diagnostic and support services for affected families. The initiative includes educational resources for healthcare professionals and the general public.
- In November 2023, A new, more rapid and cost-effective genetic testing panel for Smith-Lemli-Opitz Syndrome was introduced by a diagnostic company, making it more accessible for clinicians to confirm diagnoses and for families to undergo carrier testing.
- In August 2023, an international consortium of researchers initiated a long-term study to better understand the natural history of Smith-Lemli-Opitz Syndrome and identify potential biomarkers for disease progression and treatment response. This study aims to provide valuable insights for future therapeutic development.
- In June 2023, A specialty clinic focused on rare genetic disorders expanded its services to include a dedicated multidisciplinary team for the management of Smith-Lemli-Opitz Syndrome, offering comprehensive care including genetic counseling, nutritional support, and developmental therapies.
