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.

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A Prospective, Monocentric Clinical Study for the Validation of in Vitro Diagnostic Tests Developed by Firalis

Firalis SA and its affiliate Amoneta Diagnostics SAS are developing novel in-vitro-diagnostic (IVD) tests for diverse diagnostic applications for major human diseases, including cardiovascular, and ...

Condition: Genetic Health Risks


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



Genetic association between gene expression profiles in oligodendrocyte precursor cells and psychiatric disorders

Background: Although neuronal dysfunction has been the focus of many studies on psychiatric disorders, accumulating evidence suggests that white matter abnormalities and oligodendrocyte lineage cells,


Examining barriers and facilitators to implementing evidence-based genetic risk-stratified breast cancer screening in primary care

Introduction: While there is strong evidence supporting family cancer history screening as a tool for risk-stratified cancer screening, challenges in implementation remain. Many efforts tend to focus


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



Dr. Sara May, Allergy and Immunology

Humans With Extremely Rare Genetics

Follow me here: Instagram ▻ https://www.instagram.com/sambucha X ▻ https://www.x.com/sambucha Become a Member: ...


Dr. Sara May, Allergy and Immunology

Story by Story Episode 10: Family Medical History and Genetics

In Story by Story Episode 10, Jessica Jackson, Certified Genetic Counselor, discusses the importance of family medical history ...


Dr. Sara May, Allergy and Immunology

Basic medical genetics, Impact and Types of Genetic Diseases

genetics #geneticdisease #geneticdisorder The incidence of genetic disorders in different age groups is based on Spontaneous ...