Michael Levy, MD, PhD, Associate Professor, Harvard Medical School summarizes key research on neuromyelitis optica spectrum disorder (NMOSD) presented at the American Academy of Neurology (AAN) 2020 annual meeting.

To obtain CME credit, go to https://checkrare.com/learning/p-aan2020-nmosd-abstract-highlights-from-aan-2020/

Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four part learning program.

MPS I meets all the criteria to be part of newborn screening panel, and is included in the Federal Government’s Recommended Uniform Screening Panel (RUSP). As the number of states that include MPS I in the panel increases, clinicians need to be recognize the value newborn screening can bring to persons with these conditions. In this module, our faculty educator will explain the value of having MPS I as part of a newborn screening program.

Mucopolysaccharidosis I (MPS I) follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.

Paul Orchard, MD from the University of Minnesota Medical School discusses Mucopolysaccharidosis I (MPS I) in this four-part CME/CE series.

Without treatment, the prognosis for individuals with Mucopolysaccharidosis I (MPS I), especially the more severe form of the disease, is discouraging. Early access to treatment is also important in order to reduce disease damage and progression. In this module, our faculty educator will explore strategies for treating MPS I.

Paul Orchard, MD from the University of Minnesota Medical School discusses early symptoms for Mucopolysaccharidosis I (MPS I), especially in those with the attenuated form of the disease,. Since this progressive disease has a treatment that can slow progression, it is imperative that clinicians recognize symptoms early so a correct diagnosis can be made. In this module, our faculty educator will explore making a proper diagnosis of MPS I.

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I (MPS I).

MPS I follows an autosomal recessive inheritance pattern. Therefore, diagnosing a person with this disease means that their close relatives should also be tested to see if they have the disease or are carriers of the disease. Both scenarios can be useful to plan the person’s future as an individual and as a potential parent. In this module, our faculty educator will explore genetic counseling for MPS I.

Peter Tebben, MD, of the Department of Pediatric and Adolescent Medicine, and Assistant Professor of Medicine at the Mayo Clinic in Rochester, MN provides an overview of tumor-induced osteomalacia (TIO).

Recently, the US Food and Drug Administration (FDA) provided clearance to proceed with a Phase 2 clinical trial assessing HST5040 to treat children with propionic acidemia and methylmalonic acidemia, two rare inborn error of metabolism conditions that currently have limited treatment options. We talked with one of the principal investigators of the study, Marshall Summar, MD, Division Chief, Genetics and Metabolism and Director of the Rare Disease Institute at Children’s National Hospital.

Cyndi Frank, of the Gaucher Community Alliance explains her long diagnostic journey.