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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Care Plans for Cancer Predisposition

Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition S ...

Condition: Genetic Predisposition


Comparison of the Euploid Rate of Blastocyst Between PPOS and GnRH Antagonist Protocol in Patients Undergoing PGT-A

This randomized trial aims to compare the euploid rate of blastocysts between PPOS and GnRH antagonist protocols in patients undergoing PGT-A.
Infertile women who have medical indication for P ...

Condition: Preimplantation Genetic Testing


Care Plans for Cancer Predisposition

Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition S ...

Condition: Genetic Predisposition



Epilepsy-associated CHD2 missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms

The CHD2 gene is one of the most common causative genes of developmental and epileptic encephalopathy (DEE). With the advent of high-throughput sequencing, identifying CHD2 variants has increased, nec


Dupilumab for atopic manifestations in pediatric patients with inborn errors of immunity: efficacy and safety in a genetically diverse cohort

Inborn Errors of Immunity (IEI) are monogenic disorders that predispose patients to infections, autoimmunity, atopy, and malignancies. Severe Th2-driven atopic dermatitis and asthma are common in seve


The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign

This work summarizes 15 years of genetic research on neutropenia in the Polish pediatric cohort, explores the distribution and spectrum of disease-causing genetic variants associated with congenital n



Dr. Sara May, Allergy and Immunology

GFPD Webinar: Genetics 101

Join Dr. Eric Rush, GFPD Scientific Advisory Board member, to learn the basics of genetics. Before, during, or after the diagnostic ...


Dr. Sara May, Allergy and Immunology

Genetics Full Course | 13 High-Yield Chapters

Welcome to the Complete Genetics Lecture Series from MedicoMedics — a full 2+ hour medical course covering the foundations ...


Dr. Sara May, Allergy and Immunology

Meet Annarita Nicosia, MD - Medical Genetics - Our Lady of the Lake Physician Group

Annarita Nicosia, MD, completed her medical degree at the Università degli Studi di Catania in Italy and completed her European ...