Rare Disease Report

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.

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.

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).

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.

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.

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.

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

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

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

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

Stephen Russell, MD, talks about promising new data that has the potential to provide a breakthrough for treating the most common mutation of the rare genetic eye disease.

Jordana Hoppe, MD, discusses the burden of cystic fibrosis on infants and children.

Ennis James, MD, discusses the challenges and lingering questions associated with sarcoidosis

Eric Wallace, MD, discusses Anderson-Fabry disease and the difficulties associated with screening, testing, and treatment.

In this first episode, Kim Smith-Whitley, MD, discusses the history, presentations, and research status of sickle cell disease.