Nancy L. Kuntz, MD, FAAN, Professor of Pediatrics and Neurology at Northwestern University Feinberg School of Medicine provides an overview of best practices to diagnose spinal muscular atrophy (SMA).

This CME activity is possible through an educational grant from AveXis.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-spinal-muscular-atrophy-module1-diagnosing-sma/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

Edward M Wolin, MD, Professor of Medicine from the Icahn School of Medicine at Mount Sinai provides an overview of neuroendocrine tumors research highlights presented at ENDO 2020.

This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc.

To obtain credit for this activity, please visit https://checkrare.com/learning/p-endo2020-neuroendocrine-tumors-nets-abstract-highlights/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

Judy Shizuru, MD, Blood and Marrow Transplant Specialist, Stanford University School of Medicine, discusses clinical data from an ongoing phase 1 trial of JSP191 in patients with severe combined immune deficiency (SCID).

SCID is a group of inherited immune system disorders characterized by abnormalities with responses of both T cells and B cells. Common symptoms include an increased susceptibility to infections including ear infections; pneumonia or bronchitis; oral thrush; and diarrhea.
As Dr. Shizuru explains, JSP191 is a humanized monoclonal antibody in clinical development as a conditioning agent that clears hematopoietic stem cells from bone marrow.

Preclinical studies have shown that JSP191 as a single agent safely decreases normal and diseased hematopoietic stem cells, including in animal models of SCID, myelodysplastic syndromes (MDS) and sickle cell disease (SCD). JSP191 is currently being evaluated as a sole conditioning agent in a phase 1/2 trial evaluating the safety and tolerability of JSP191 in patients undergoing hematopoietic cell transplant for SCID. JSP191 is also being evaluated in a phase 1 study in patients with MDS or acute myeloid leukemia (AML) who are receiving hematopoietic cell transplant.

To learn more about SCID and other rare autoimmune disorders, visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

Michel Michaelides, MD, of UCL Institute of Ophthalmology; Moorfields Eye Hospital provides an overview of X-linked retinitis pigmentosa (XLRP), including its symptoms, common treatments, as well as a summary of the latest interim data from the MGT009 trial.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

Maurice Ohayon, MD, PhD, Professor of Psychiatry and Behavioral Sciences at
Stanford University summarizes key research on narcolepsy presented at the American Academy of Neurology (AAN) 2020 annual meeting.

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

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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/

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.

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.

Rare Discussions is produced by CheckRare, the leading multimedia platform dedicated to advancing education, awareness, and innovation across the rare disease community.

Explore additional physician interviews, podcasts, CME activities, and rare disease resources at CheckRare.com.

Subscribe to the CheckRare Podcast Network for expert conversations, weekly news, accredited education, and the latest advances across the rare disease community.

Part of the CheckRare Podcast Network: Trusted conversations, news, education, and expert insights across the rare disease community.