Rare Disease Advisor

Polystyrene Nanoplastic Exposure Lowers Seizure Threshold in Dravet Syndrome Models

Nanoplastics, which are small enough to cross the blood-brain barrier, may increase vulnerability to seizures in Dravet ...
Rare Disease Advisor

When Pompe Disease Moves the Finish Line

An endurance athlete living with Pompe disease reflects on the slow progression of his rare disease and how it affects his ...
Rare Disease Advisor

At-Home EEG Monitoring Feasible for Real-World Sleep Assessment in LGS

HEADFIRST study results demonstrated that at-home EEG monitoring generates useful data about sleep architecture in people ...
Rare Disease Advisor

From a Yahoo Chat Group to a National Force Behind Prader-Willi Research

The Global PWS Patient Registry was established in 2015 and includes more than 5000 participants from 28 countries.
Rare Disease Advisor

Multi-Institutional Landscape Analysis Details Pediatric TPE Outcomes

The TriNetX registry study established age-stratified clinical outcomes, adolescent demographic shifts, and reporting ...
Rare Disease Advisor

FDA Probes Cancer Risk Linked to SMA Gene Therapy

The FDA is investigating reports of tumors among patients with spinal muscular atrophy (SMA) who received onasemnogene ...
Rare Disease Advisor

HDFN: Distinctive RhD Typing Pattern May Flag DV.5 and DAU4 Variants

A distinctive pattern in routine RhD blood typing may help flag 2 partial-D variants associated with anti-D alloimmunization, a cause of hemolytic ...
Rare Disease Advisor

NeuroD1 Appears to Convert Astrocytes Into GABAergic Neurons in Huntington Disease Mice

The results of a Huntington disease (HD) mouse study suggest using NeuroD1 to reverse striatal neuron identity loss may be a ...