Special Interest Network on Rare Diseases


Rare Disorders: Don't give up!

Speaker: Anders Fasth

Duration: 0:10:29

Mucopolysaccharide Diseases - S2

Speaker: Christine Lavery

Duration: 0:17:20


Mucopolysaccharide Diseases - S1

Speaker: Frits Wijburg

Duration: 0:15:50

Mucopolysaccharide Diseases - S4

Speaker: Fatma Al Jasmi

Duration: 0:11:38

Mucopolysaccharide Diseases - S3

Speaker: Charles Marques Lourenco

Duration: 0:14:41

A clinical approach to inborn errors of metabolism

Speaker: J.Lawrence Merritt

Duration: 0:36:37

Interview - What you should know on Rare Diseases

Speaker: Anders Fasth

Duration: 0:06:12

Cystinosis - Early Diagnosis and Patient Support

Speaker: Valerie Hotz

Duration: 0:23:18
Learning objectives: At the end of the video, viewers will: (1) understand the symptoms of Nephropathic Cystinosis and their similarity to Diabetes, and the resultant risk of misdiagnosis; (2) understand the importance of collaboration among healthcare professionals, families/patients to care for patient including referral to established Cystinosis patient support group to improve long-term outcomes; and (3) learn how to promote all stakeholders remaining open to hearing one another to improve the care for the patient.

Spotting the signs of kidney disease in children

Speaker: Richard Trompeter

Duration: 0:17:12
Learning objectives: At the end of the video, viewers will: (1) be able to identify the common presenting signs and symptoms of kidney disease; (2) understand the relevance and importance of investigation; and (3) understand the long-term implications of signs being missed.

Epidemiology of rare disease - impact on a national and international child health

Speaker: Richard Reading

Duration: 0:20:08
Learning objectives: At the end of the video, viewers will: (1) understand how active pediatric rare disease surveillance can be developed in their country; (2) understand how rare disease epidemiology can address public health concerns; and (3) learn about the importance of multi-source ascertainment in undertaking rare disease surveillance.

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