Continuing Medical Education For HCPs
Staying updated with the latest advancements in rare disease care is crucial for healthcare professionals. Our Continuing Medical Education (CME) resources offer in-depth insights into the evolving landscape of rare disease care. Explore a range of educational materials designed to empower medical professionals with the knowledge needed to offer the best possible care to rare disease patients. Stay informed about the latest treatment approaches, specialized care strategies, and innovative rare disease solutions.
Sponsored By
Universal- Versus Guidelines-Directed Genetic Testing for Germline Pathogenic Variants Utilizing a Multi-Gene Panel for Inherited Cancers in Non-Western Society.
The investigators aim to study the pattern and frequency of pathogenic variants among ALL newly diagnosed cancer patients in a genetically distinct population.
Additionally, the investigators ...
Condition: Genetic Predisposition
Newborn Genomic Sequencing Pilot Study
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS.
Newborns who are not suspected of having genetic diseases and who ...
Condition: Genetic Disease
Developmental Trajectory of Gene and Life Participation in Children With Developmental Delay
The goal of this observational study is to learn the factors affecting the quality of life in children's development.
The main hypothesis for this study is:
If the level of well-be ...
Condition: Genetics
Tackling somatic DNA contamination in sperm epigenetic studies
Introduction: Recent interest in sperm epigenetics has stemmed from its implication in sperm DNA quality, sperm fertility, environmental toxicity, and transgenerational inheritance. Sperm epigenetic d
EndoGene database: reported genetic variants for 5,926 Russian patients diagnosed with endocrine disorders
Introduction: Endocrine system disorders are a serious public health burden and can be caused by deleterious genetic variants in single genes or by the combined effects of multiple variants along with
Causality of genetically determined glucosamine supplementation on cognition and sarcopenia: a Mendelian randomization study
Background: Evidence indicates a negative link between glucosamine and age-related cognitive decline and sarcopenia. However, the causal relationship remains uncertain. This study aims to verify wheth
Genomics in public health: Technology assessment
Virtual seminar series on human genomics for health The Science and Knowledge for Impact Unit (SK/EIH) and the Access to ...
Learn About Pediatric Medical Genetics with Gerard Vockley, MD, PhD
Gerard Vockley, MD, PhD, is an internationally recognized leader in medical genetics and the field of inborn errors of metabolism.
What is the future of genetic medicine?
Penn State Professor of Biochemistry and Molecular Biology Stephan Schuster shares his view on the future of genetic medicine.