Brave Community provides valuable healthcare provider-focused educational resources on several rare genetic diseases. In the Case Study section you will find case studies, written by leading rare disease experts, to help you understand the diagnosis and management of these disorders. We also have an Additional Resources section where presentations, videos and fact sheets on certain rare disorders can be accessed. And, our Publications section provides links to publications that may be helpful in your pursuit of information. Please check back often as we will add new resources as they become available.
BraveCommunity.com is pleased to offer a series of interactive case studies for healthcare providers. These case studies have been created by leading experts in the management of rare genetic disorders, and are based on real cases. We offer case studies on: Fabry disease, Gaucher disease, Hereditary Angioedema (HAE), Hunter Syndrome (MPS II) and Sanfilippo Syndrome (MPS III). Below you will find a featured case study on Sanfilippo Syndrome.
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Sanfilippo Syndrome Case Study
Luke
Learn about the difficult diagnosis of Sanfilippo Syndrome (MPS III). Luke began exhibiting symptoms at 18 months, and after exhibiting increasingly difficult behavor and decreased mental development, his pediatrician referred Luke to a psychologist who felt there was a somatic cause for Luke's behavior and referred the family to a geneticist.
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BraveCommunity.com strives to provide high quality disease education for healthcare providers. In the Additional Resources section you will find presentations, slide decks, fact sheets, and videos as well as other disease education and management information. Please check back often for new information and resources.
Brave Community is pleased to provide specially developed Fabry educational materials. The links below offer additional detail about many aspects of Fabry disease including a disease overview, information on the various organ systems affected by Fabry disease, as well as information about well-being and management for individuals with Fabry disease.
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Below please find a short bibliography of a few examples of published articles about certain rare diseases. This list is not a complete list of available published information about these topics.
Metachromatic Leukodystropy:
Gieselmann V, Polten A, Kreysing J, von Figura K. Molecular genetics of metachromatic leukodystrophy. J Inherit Metab Dis. 1994;17(4):500-509. [PubMed ID 7967499]
Sanfilippo Syndrome:
Fraser J, Gason AA, Wraith JE, Delatycki MB. Sleep disturbance in Sanfilippo Syndrome: a parental questionnaire study. Arch Dis Child. 2005;90(12):1239-1242.
[PubMed ID 16301549]
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