Evolving Approaches to Smith-Lemli-Opitz Syndrome: From Diagnosis to Personalized Treatment
This year’s top articles focused on the progress in research and treatment of Smith-Lemli-Opitz syndrome (SLOS), emphasizing the importance of individualized care and the potential of gene therapies for the future.
1. Smith-Lemli-Opitz syndrome: evolution of research on the condition and how to individualize patient care
Margaret Nowaczyk, MD, professor of pathology and molecular medicine and of pediatrics at McMaster University in Hamilton, Canada, talks about the evolution of research on SLOS and how individualized care is paramount.
Watch here.
2. Dr. Steiner addresses the past, present, and future of diagnosing and treating SLOS
Robert Steiner, MD, clinical professor at the University of Wisconsin School of Medicine and Public Health, talks about cholic acid for the treatment of SLOS, as well his hope for gene therapies and other approaches in the future.
Watch here.
3. Pilot study shows promise for genome sequencing in newborn screening, but parental understanding lags
Integrating rapid genome sequencing and the BeginNGS platform into newborn screening shows promise for early detection of severe genetic disorders, with positive findings in 5% of cases. Despite high parent satisfaction, only 64% fully understood the test results, highlighting a need for improved communication of genomic information.
Read more here.
4. From Discovery to Care: Smith-Lemli-Opitz Syndrome
In the realm of genetic disorders, SLOS stands as a challenging puzzle for medical professionals. Ellen Roy Elias, MD, one of the geneticists who helped discover the cause of SLOS, spoke with Rare Disease 360 to shed light on the intricacies of SLOS, its diagnostic journey, treatment options, and the pivotal role of genetic counseling.
Read more here.
5. The evolving treatment of SLOS: From cholesterol supplementation to gene therapy
In a recent interview with Rare Disease 360, Dr. Robert Steiner, a leader in SLOSresearch, explores the evolution of diagnosing and treating this rare genetic disorder. He highlights key milestones such as the discovery of the genetic mutations responsible for SLOS and advances in understanding its biochemical pathways, notably the cholesterol metabolism defect that underpins the condition.
Read more here.
