Rare Diseases

Current bibliography for experts

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FABRY

Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype–phenotype correlations

2019-03-05

A major challenge in the clinical phenotyping of patients with Fabry disease is the differential diagnosis between its nonspecific cerebrovascular, cardiac and renal complications, and similar chronic illnesses that are common in the general population. Therefore, comprehensive phenotyping is crucial for grading the severity of pathogenic GLA variants.

GAUCHER

Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial

2019-01-01

Eliglustat is first-line oral therapy for adults with Gaucher disease type 1 (GD1). GD1 patients using this therapy for eight years were studied and their patients observed clinically significant improvements in all measures, with the most significant improvements being noted in the most severely affected patients.

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...

ESHG - Avrupa İnsan Genetiği Konferansı 2025

The annual ESHG 2025, European Conference on Human Genetics, will be held in Milan, Italy between 24-27 May 2024. Organi...

World Orphan Drug Congress 2025

World Orphan Drug Congress USA, one of the most important orphan drug and rare disease congresses, will be held in Bosto...

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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...