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
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
Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience
Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary r
Genetically mimicked effects of thyroid dysfunction on diabetic retinopathy risk: a 2-sample univariable and multivariable Mendelian randomization study
Background: Thyroid dysfunction exhibits a heightened prevalence among people with diabetes compared to those without diabetes. Furthermore, TD emerges as a notable correlated risk factor for the onse
Genomics Specialist Careers: Meet the Genetic Counsellors
Genetic counsellors have training in both genetics/genomics and counselling. They are integral to the genomics multidisciplinary ...
Types of Mutations | Changes in the Gene Pool | Genetic Drift | Biology 🧬
Types of Mutations | Biology Lectures for USMLE, NCLEX, MCAT, DAT, ASCP.. Emergency Medicine HighYields Course: ...
Video Biography for Caleb Bupp, MD
Caleb Bupp, MD, is a medical geneticist. Dr. Bupp earned his medical degree from The University of Toledo College of Medicine ...