Rare Disease Advisor

Single Targeted Long-Read Sequencing Assay Detects Diverse Inherited Myopathies

Researchers developed a single LRS assay that can detect and characterize genetic variations causing inherited myopathies, ...
Rare Disease Advisor

Cord Blood Cell Dose May Shape Outcomes in High-Risk MDS

Higher CD34+ cell and colony-forming unit-granulocyte/macrophage (CFU-GM) doses were associated with better DFS in high-risk ...
Rare Disease Advisor

Label Update Supports Use of PAH Therapy in Newly Diagnosed Patients

The FDA has approved an update to the label of sotatercept-csrk to include data from a trial, which tested the drug in newly ...
Rare Disease Advisor

Parkinson Disease Can Emerge Before Age 50 in Patients With Gaucher Disease Type 1

The results of a retrospective study of patients with Gaucher disease (GD) type 1 may support earlier screening for Parkinson ...
Rare Disease Advisor

Interstitial Lung Abnormalities Associated With Worse Long-Term Lung Cancer Survival

Interstitial lung abnormalities have an adverse effect on long-term survival after non–small cell lung cancer resection, ...
Rare Disease Advisor

Switching From Emicizumab to Denecimig Seems Well Tolerated in Hemophilia A

Switching from emicizumab to denecimig without a washout period in adolescents and adults with hemophilia A is well tolerated ...
Rare Disease Advisor

Red Blood Cell Abnormalities Linked to Disease Severity in Low-Risk MDS

RBCs in patients with low-risk MDS carry distinct physiological abnormalities that go beyond ineffective erythropoiesis.
Rare Disease Advisor

MicroRNA miR-196a Reduces mHTT Aggregates by Targeting Rad23b in Huntington Disease Models

The results of a new study show miR-196a may reduce mHTT through Rad23b, suggesting the protein as a potential target in HD.
Rare Disease Advisor

CAR T-Cell Therapy Shows Early Efficacy but Limited Durability in PCNSL

CAR T-cell therapy produced a 68% overall response rate in 194 patients with PCNSL, but progression-free survival fell to 25% ...
Rare Disease Advisor

Hermansky-Pudlak Syndrome: A Multisystem Disease That Often Leads to Pulmonary Fibrosis

HPS has 11 subtypes; 100% of patients with type 1, 2, or 4 will develop pulmonary fibrosis, usually by their mid-30s.
Rare Disease Advisor

Increased Blood-Brain Barrier Permeability Associated With Brain Injury in SCD

The permeability of the blood-brain barrier is increased in young adults with SCD and is associated with microstructural ...
Rare Disease Advisor

HMAs Improve Overall Survival in Thai Patients With High-Risk MDS

Hypomethylating agents significantly improve overall survival rates of patients in Thailand with high-risk MDS, a study found ...