CheckRare Featured Podcasts

Avanish Vellanki, Cofounder and CEO at Rain Therapeutics, discusses the role of p53 and MDM2 in cancers like liposarcoma, the mechanism of action of milademetan, and the positive pre-clinical data presented at the 2021 World Conference of Lung Cancer.


Daniel Lovell, MD, MPH, Associate Director of the Division of Rheumatology at Cincinnati Children’s Hospital Medical Center, provides an overview of juvenile idiopathic arthritis (JIA).


Daniel Auclair, MD, Chief Scientific Officer of the Multiple Myeloma Research Foundation (MMRF), discusses the foundation’s history and what they are currently doing to progress multiple myeloma research.


Tim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, discusses the phase 1/2 RESKUE study which will evaluate FBX-101 for the treatment of Krabbe disease. This clinical trial is currently recruiting.


Tim Miller, PhD, CEO, President, and Co-Founder of Forge Biologics, gives an overview of Krabbe disease.


William D. Tap, MD, Chief of the Sarcoma Medical Oncology Service at Memorial Sloan Kettering Cancer Center, gives an overview of tenosynovial giant cell tumors (TGCT), their symptoms, and why a multidisciplinary team is needed to treat them.


Maria Fleseriu, MD, FACE, Professor of Medicine and Neurological Surgery and Director of the Pituitary Center at Oregon Health and Science University provides an overview of acromegaly research highlights presented at ENDO 2021. This CME activity is possible through an educational grant from Ipsen BioPharmaceuticals, Inc. To obtain credit for this activity, please visit


Please join Drs. Ozlem Goker-Alpan and Ari Zimran as they discuss the latest developments in the treatments for lysosomal storage diseases. To obtain credit for this activity, please visit


Derralynn Hughes, MD, from the Royal Free London NHS Foundation Trust discusses the latest research about Fabry disease that was presented at WORLDSymposium 2021. To obtain CME credit, go to


Barbara K. Burton, MD from the Northwestern University Feinberg School of Medicine
Chicago, IL provides an overview of Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium. This CME activity is possible through an educational grant from Ultragenyx Pharmaceutical Inc. To obtain credit for this activity, please visit


Morie A Gertz, MD, MACP, Professor of Medicine at the Mayo Clinic College of Medicine and Science in Rochester, Minnesota discusses best practices to diagnose ATTR amyloidosis. This CME activity is possible through an educational grants from Akcea Therapeutics and Alnylam Pharmaceuticals. To obtain credit for this activity, please visit


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


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 


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.


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.


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.



David Dale, MD at the University of Washington Medical Center in Seattle, discusses some of the challenges in diagnosing WHIM syndrome.

Individuals with WHIM syndrome have severe congenital neutropenia. In addition, because they also have profound white blood cell (WBS) deficiencies characterized as panleukopenia, WHIM syndrome is also classified as a severe combined immunodeficiency. B lymphopenia is particularly severe, and this probably accounts in part for hypogammaglobulinemia. Somepatients also have developmental defects of the cardiovascular, urogenital, and nervous systems, although only the cardiovascular defects appear to be clinically significant.

The first symptoms that appear in very young patients are recurrent bacterial infections (especially respiratory infections like sinusitis, otitis media, and pneumonia) and cellulitis. Another challenge to diagnosis is the transient normalization of white blood cells during acute infections, which is the moment when patients most commonly seek medical attention. This can lead clinicians into missing the key sign of low neutrophils. As a result, diagnosis is often delayed until other characteristics of WHIM appear, and delayed diagnosis challenges the initiation of appropriate treatment.

For more information on WHIM syndrome, visit the WHIM Syndrome Learning Center.



Heather Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health, provides an overview of how to manage a person with Gaucher disease during the current COVID-19 pandemic.

Gaucher disease is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen.

Many Gaucher disease symptoms, comorbidities, and treatment options can complicate how these patients are managed during the current pandemic. In this webinar, Dr. Lau explains the:

  • Multisystemic manifestations of COVID-19
  • Impact of COVID-19 on Gaucher
  • Impact of COVID-19 on access to therapy
  • Exposure to COVID-19. What to do?
  • Ethical considerations of COVID-19 in Gaucher disease patients

To learn more about Gaucher disease and other lysosomal storage disorders, visit or