Rare Disease Discussions

Nicola Longo MD, PhD, and Mark Roberts, MD Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los Angeles, CA, USA Mark Roberts, MD Profesor and Consultant Neurologist, University of Manchester, Manchester, UK R...

Nicola Longo MD, PhD, and Mark Roberts, MD  Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los Angeles, CA, USA Mark Roberts, MD Profesor and Consultant Neurologist, University of Manchester, Manchester, UK...

Nicola Longo MD, PhD Professor and Vice Chair of Human Genetics, Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine, Division of Clinical Genetics, Department of Human Genetics, University of California at Los Angeles (UCLA), Los Angeles, CA, USA Mark Roberts, MD Professor and Consultant Neurologist, University of Manchester, Manchester, UK Research Lead for Adult Metabolic Medicine...

Chair Professor Yoshikatsu Eto Advanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, Japan Speakers Dr Nicole Muschol  International Center for Lysosomal Disorders (ICLD), University Medical Center, Hamburg-Eppendorf, Germany Professor Patrício Aguiar Inborn Errors of Metabolism Reference Center, Unidade Local de Saúde de Santa Maria / Faculty of Medicine, Lis...

This accredited continuing education program is supported by an educational grant from Sanofi. Credit for the program can be obtained by visiting https://checkrare.com/learning/p-consider-rare-suspecting-and-diagnosing-cidp / .  This program, led by Jeffrey Allen, MD, Professor of Neurology at the University of Minnesota provides an overview on the diagnostic delays that often occur in patients wi...

Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Raphael Schiffmann, MD, of the Texas Christian University, discuss best practices to identify and treat neurologic problems associated with lysosomal disorders. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research...

This program, led by Christiaan Scott, MD, Professor of Pediatric Rheumatology at the University of Ottawa and Raphaella Stander, MBCHB, Pediatrician at Atlantic Children’s Practice, focused  on three case studies to provide physicians with education on best practices to: 1) suspect and diagnose FOP, 2) monitor and manage younger children with FOP, and 3) monitor and manage older children and adul...

This accredited CME program highlights the latest clinical research about immune thrombocytopenia (ITP), a rare thrombotic disorder.   Led by Shruti Chaturvedi, MD, this program provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with ITP.  This program is supported by an educ...

The accredited CME program highlights the latest clinical research about iTTP, a rare thrombotic disorder.   Led by Shruti Chaturvedi, MD, this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with iTTP.  This program is supported by an educational grant from Sanof...

The accredited CME program highlights the latest clinical research about hemophilia, a rare, genetic bleeding disorder.   Led by Dr. Steven Pipe, MD, this activity provides a summary of clinically relevant data presented at the International Society of Thrombosis and Haemostatis Congress (ISTH 2025) that can enhance the care of patients with hemophilia.  This program is supported by an educational...

This program is supported by an educational grant from UCB, Inc.  This accredited CME program highlights the latest clinical research about myasthenia gravis, a rare, autoimmune disease that targets the neuromuscular junction.  This program, led by Dr. James Howard Jr, provides a summary of clinically relevant data presented at the American Academy of Neurology Annual Meeting (AAN 2025) held in Sa...

Warner Carr, MD, Allergist and Immunologist at the Allergy and Asthma Associates of Southern California, discusses the mastocytosis control test and its implications for physicians.

Ozlem Goker-Alpan, MD, Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Ravi Kamath, MD, PhD, of Fairfax Radiological Consultants & Inova Health System and University of Virginia School of Medicine Fairfax, Virginia, USA discuss best practices to identify and treat bone problems associated with lysosomal disorders. This continuing education acti...

This program is supported by educational grants from Amicus Therapeutics, Inc. and Chiesi USA Inc. Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive d...

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by abnormal bone development. Most babies with FOP appear normal and healthy at birth with one exception—the appearance of deformed big toes. Unfortunately, this common deformity can be attributed to other causes. This can result in a delay of years before a person is diagnosed with FOP properly. This educa...

This educational program, hosted by Patrick McKiernan, MD, Pediatric Hepatologist at Birmingham Children's Hospital NHS Foundation Trust and Nadia Ovchinsky, MD, Professor of Medicine at NYU Grossman School of Medicine discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with PFIC. It also explains why the new guidance recommends the early use of IBAT...

This CME program provides information on best practices to manage children with lysosomal disorders who have been identified by newborn screening. WIth the wide range of symptoms and severities that present for these rare conditions, it is not always certain when the best time to start treatment is in these patients. Continuing Education Information This continuing education activity is provided b...

This CME program, hosted by Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2024. PAH is a rare, progressive disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes...

Hereditary angioedema (HAE) is a rare condition often due to reduced levels C1-inhibitor, which is a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds and inhibits plasma kallikrein and factor XIa, thereby affecting bradykinin production. It is believed that the disruptions of these processes cause fluid to leak from the...

This educational program is made possible by an unrestricted grant from Takeda Pharmaceuticals. Hereditary angioedema (HAE) is a rare genetic disease that results in immunologic attacks that can be life-threatening. HAE is the result of reduced levels of C1-inhibitor, a protein involved in various physiological processes in plasma, most notably with the complement system. C1-inhibitor also binds a...

João Gonçalves Faculty of Pharmacy University of Lisbon Lisbon, Portugal Paolo Caliceti Department of Pharmaceutical and Pharmacological Sciences University of Padova Padova, Italy What Is PEGylation and Why Is It Important? We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic prote...

This 30-minute CME-accredited program, hosted by John Kuruvilla, MD, discusses best practices for talking to patients with hematologic malignancies about possibly participating in clinical trials. Jointly Provided by American Academy of CME and CheckRare CE. Support for this accredited continuing education activity has been made possible through educational grant from Merck. Estimated time to comp...

Jointly Provided by American Academy of CME Inc and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc. and UCB. Estimated time to complete: 0.50 hours Start date: November 7, 2024 End date: November 6, 2025 This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of...

Jointly Provided by American Academy of CME Inc and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through an educational grant from argenx US Inc.and UCB. Estimated time to complete: 0.25 hours Start date: November 7, 2024 End date: November 6, 2025 This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role o...

Jointly Provided by the American Academy of CME and CheckRare CE Inc. Support for this accredited continuing education activity has been made possible through educational grant from argenx US Inc. and UCB. Estimated time to complete: 0.25 hours Start date: November 7, 2024 End date: November 6, 2025 This quarter-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, discusses the safety...