Rare Diseases

Current bibliography for experts

"Cardiomyopathies" search results...

FABRY

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease

2025-04-17

Applying artificial intelligence to rare diseases: a literature review highlighting lessons from Fabry disease.

FABRY

Prompt Agalsidase Alfa Therapy Initiation is Associated with Improved Renal and Cardiovascular Outcomes in a Fabry Outcome Survey Analysis

2021-08-16

This analysis suggests that prompt treatment initiation with agalsidase alfa provided better renal and cardiovascular outcomes than delayed treatment in patients with Fabry disease.

POMPE

Infantile-onset Pompe disease: Diagnosis and Management

2019-08-01

This study updates the available clinical and diagnostic data about Pompe disease. The benefits and side effects of existing treatments and new therapeutic research are also reviewed.

News and Events

ASHG 2025

The ASHG (American Society of Human Genetics) 2025 Annual Meeting will be held in Boston from October 14-18. The meeting...

European Congress on Rare Diseases and Orphan Drugs

One of the leading events in the field of rare diseases and orphan drugs, the European Congress on Rare Diseases and Orp...

I-PAS Academy

I-PAS Academy, of which Gene2Info is one of the sponsors, will be held in Muğla between October 24-26, 2025.

All News

Gene2info provides genetic diagnoce service for 23 of rare diseases

Gene2info has an end-to-end service solution for rapid diagnosis of rare diseases via genetic testing. The solution cove...