Rare Diseases

Current bibliography for experts

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FABRY

Biomarkers in Fabry Disease, Implications for Clinical Diagnosis and Follow-up

2021-04-13

The use of various biomarkers in Fabry disease may help the diagnosis of the disease and the early detection of organ injury, and provide more information on disease progression and prognosis.

XLH

Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

2020-10-01

Burosumab, a recombinant human IgG1 monoclonal antibody, has been shown to improve phosphate homeostasis, which resolves the skeletal and non-skeletal manifestations of X-linked hypophosphataemia (XLH), in clinical trials (phases 2 and 3).

CTX

Natural history of neurological abnormalities in cerebrotendinous xanthomatosis

2018-07-04

Highlights: The object of this study was to determine neurological progression in CTX. We provide estimates for the neurological progression of CTX, categorizing neurological abnormalities according to time and probability of development. Our approach may be applicable to other rare disorders.

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...