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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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


Safety and Efficacy Study of Topical DLQ01 in the Treatment of Androgenetic Alopecia (AGA) in Men

The goal of this study is to measure the safety, tolerability, and the hair growth response to topical DLQ01 solutions in comparison to the vehicle and a comparator solution in 120 males with Androgen ...

Condition: Androgenetic Alopecia



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



Dr. Sara May, Allergy and Immunology

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.


Dr. Sara May, Allergy and Immunology

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.


Dr. Sara May, Allergy and Immunology

Careers in Individualized Medicine: Clinical Genetic Scientist

Matthew Ferber, Ph.D., is a clinical genetic scientist who has expanded his tool kit to aid patients. To learn more about the Mayo ...