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The FDA is expected to announce the final decision for the dual therapy AT-GAA, which uses miglustat in combination with cipaglucosidase alfa for treating Pompe disease, an inherited and often times fatal disorder. Expert Barry Byrne discusses the characteristics of the condition and what this FDA decision will mean for treatment.…
 
In the wake of Newborn Screening Awareness Month, this episode dives into a novel diagnostic precision medicine guidance tool called BeginNGS. Catherine Nester, RN, and Dr. Stephen Kingsmore, discuss the pivotal role of newborn screening in diagnosing rare diseases. As representatives from collaborating partners Inozyme Pharma and Rady Children's I…
 
The second episode of the 2-part Rare Disease Report shifts to a clinical perspective with the expertise of Dr. Pestana, a pediatric epileptologist at the Epilepsy Center, Cleveland Clinic Neurological Institute who treats patients with CDKL5 deficiency disorder (CDD).Rare Disease Report による
 
Mikkael Sekeres, MD, is no stranger to rare disease. In his own words, there are rare diseases and then there are very rare diseases. Sickle cell is a rare condition with an incidence rate of just over 100 per 100,000 people. Sekeres focuses much of his treatment on patients with bone marrow disorders like myelodysplastic syndromes (MDS) and acute …
 
In this hallmark episode, we discuss a condition that has only been documented in 70 cases worldwide. Dr. Amelle Shilligton is a clinical geneticist at Cincinnati Children's Hospital Medical Center. In this conversation, Ashley and Jacob Wiley share the story of how they rushed their 15 month old daughter Aislynn to that hospital, and Dr. Shillingt…
 
For Autoimmune Disease Awareness Month, Joe Ahearn, MD, discusses relapsing polychondritis from a clinical perspective with Michael Linn, an advocate and the Vice Chair of the Relapsing Polychondritis Foundation. The team shares an exciting announcement about the partnership they've formed.Rare Disease Report による
 
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