Genetic Disorders Courses and Certifications

University of Kentucky

Malignant Hyperthermia Keyword Review

Comprehensive review of malignant hyperthermia, covering key aspects, diagnosis, and management strategies for this rare but potentially life-threatening condition in anesthesia.

• YouTube
• 18 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Cystic Fibrosis - Definition, Pathogenesis, Symptoms and Complications

Comprehensive overview of cystic fibrosis, covering its definition, underlying mechanisms, clinical manifestations, and potential complications. Ideal for medical students and healthcare professionals seeking in-depth understanding.

• YouTube
• 17 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Glucose-6-Phosphate Dehydrogenase Deficiency - AKA Favism

Explore G6PD deficiency, an X-linked disorder causing hemolytic anemia. Learn about its protective effect against malaria, triggers like fava beans, and common symptoms including jaundice and fatigue.

• YouTube
• 22 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Acute Intermittent Porphyria - Disorders of Heme Synthesis - Biochemistry & Hematology

Explore the genetic disorder Acute Intermittent Porphyria, its symptoms, and treatment. Learn about heme synthesis defects, neuropsychiatric manifestations, and diagnostic indicators.

• YouTube
• 22 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Pompe Disease - Glycogen Storage Diseases

Comprehensive overview of Pompe disease, covering genetic causes, symptoms, and complications. Includes mnemonic for easy recall and discusses its classification as a glycogen storage disorder.

• YouTube
• 22 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Glycogen Storage Disease Type 6 (GSD-VI) - Hers Disease: Causes, Symptoms, and Diagnosis

Comprehensive overview of Glycogen Storage Disease type 6, covering causes, symptoms, and diagnostic approaches. Explores glycogen metabolism and related disorders for healthcare professionals and students.

• YouTube
• 25 minutes
• On-Demand
• Free Video

Mary Greeley Medical Center

Cystic Fibrosis - The Past, Present and Future

Comprehensive overview of cystic fibrosis, exploring its history, current understanding, and future prospects in diagnosis and treatment. Insights from Dr. Edward Nassif on this complex genetic disorder.

• YouTube
• 52 minutes
• On-Demand
• Free Video

Ambry Genetics

Living with Familial Hemiplegic Migraine with Paralysis - The Patient's Experience

Explore familial hemiplegic migraine through a patient's perspective, understanding its genetic basis, symptoms, and management strategies for a healthier life despite challenges.

• YouTube
• 30 minutes
• On-Demand
• Free Video

ERN ReCONNET

Update on Hypermobile Type of Ehlers-Danlos Syndromes (EDS)

Explore hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders, including clinical boundaries, genetic diagnostics, and new findings on peripheral microcirculation and skin layers.

• YouTube
• 56 minutes
• On-Demand
• Free Video

ERN ReCONNET

Joint Hypermobility in Children: Approach and Diagnosis

Explore joint hypermobility in children, covering concepts, classification, diagnosis, and management. Learn to identify and investigate relevant cases effectively.

• YouTube
• 42 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Ehlers-Danlos Syndrome - Causes, Symptoms, Diagnosis, and Treatment

Explore the causes, symptoms, diagnosis, and treatment of Ehlers-Danlos Syndrome, a genetic disorder affecting collagen production and connective tissue. Gain insights into its impact on various body systems.

• YouTube
• 13 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Osteogenesis Imperfecta - Brittle Bone Disease: Causes, Symptoms, Diagnosis, and Treatment

Uncover the causes, symptoms, diagnosis, and treatment of Osteogenesis Imperfecta (OI), a genetic disorder causing brittle bones, blue sclera, and hearing loss. Explore its impact on collagen synthesis and bone health.

• YouTube
• 12 minutes
• On-Demand
• Free Video

Broad Institute

Ladders to Cures Symposium 2023 - Advances in Rare Disease Research and Therapies

Explore cutting-edge research and developments in rare disease therapies through expert talks on genetics, drug development, biomarkers, and patient-centric approaches.

• YouTube
• 6 hours 57 minutes
• On-Demand
• Free Video

Broad Institute

Climbing Ladders to Cures in Rare Disease Research - Rare Disease Day 2024

Explore cutting-edge research and innovative approaches in rare disease treatment, from interventional genetics to biotech development, with insights from leading experts in the field.

• YouTube
• 3 hours 5 minutes
• On-Demand
• Free Video

Medicosis Perfectionalis

Homocystinemia: Causes, Symptoms, Diagnosis, and Treatment - Biochemistry and Genetics

Explore homocystinemia's causes, symptoms, diagnosis, and treatment. Understand the biochemistry and genetics behind this autosomal recessive condition affecting homocysteine metabolism.

• YouTube
• 22 minutes
• On-Demand
• Free Video