Rare Disease Report

October 28, 2022

The Pompe disease community is anticipating the pivotal FDA decision for AT-GAA, a combination therapy for late-onset Pompe disease (LOPD) that has the potential to expand the armamentarium of physicians.

October 10, 2022

Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases along with the impact that BeginNGS can have on the future of rare disease medicine.

September 02, 2022

In the second portion of the Rare Disease Report: CDKL5 podcast, Elia Pestana Knight, MD, a pediatric epileptologist shares her clinical expertise on CDKL5 deficiency disorder (CDD).

August 31, 2022

In the first episode of a 2-part Rare Disease Report, Whitney Mitchell, mother and caregiver to her 5 year old daughter Havilah, shared her experience leading up to, and now living with, Havilah’s CDKL5 deficiency disorder diagnosis.

June 03, 2022

Expert Dr. Mikkael Sekeres treats patients with bone marrow diseases and in this episode he talks about treatment methods, clinical trial obstacles and the importance of reliable sources when it comes to rare conditions like MDS and AML.

April 28, 2022

This episode features a conversation with Dr. Amelle Shillington and Jacob and Ashley Wiley after Shillington diagnosed the extremely rare genetic disease that's afflicted Aislynn Wiley, and only 69 other documented cases worldwide.

March 25, 2022

In honor of Autoimmune Disease Awareness Month, expert Dr. Joe Ahearn and advocate Michael Linn discuss relapsing polychondritis.

February 28, 2022

The Rare Disease Report Podcast returns! Our first episode features Karen Kozarsky, PhD, an expert on gene therapy and adrenomyelonueropathy.

August 04, 2021

Sharon Hrynkow, PhD, joins the Rare Disease Report to discuss the ultra rare and heterogenous lysosomal storage disorder.

July 07, 2021

Florian Thomas, MD, and Adrian Hepner, MD, cover the basics of the degenerative nerve disorder.