Special Interest Network on Rare Diseases


Post here your articles, presentations, videos or any other educational materials worth sharing with your colleagues. Stay tuned. EIP shares here all related educational materials produced from the conference, the lectures and any other activities.
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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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