External Resources

Umbrella Rare Disease organizations 

For those affected by rare diseases, various organizations around the world offer support, advocacy, and resources. Below is a list of key umbrella organizations in the USA and Europe, each dedicated to advancing research, providing information, and improving the lives of individuals with rare diseases. 

USA: 

  • NORD (National Organization for Rare Disorders): NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. They provide patient assistance programs, advocacy, education, and research funding. NORD has a section dedicated to Myofibrillar Myopathies, Distal Myopathy, and Cure HSPB8 itself. 

  • Global Genes: Global Genes is committed to connecting, empowering, and inspiring the rare disease community. They provide educational resources, advocacy tools, and support networks to patients and their families. Cure HSPB8 is a member of the Global Genes Alliance. 

  • MDA (Muscular Dystrophy Association): MDA is focused on transforming the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases through research, care, and advocacy.  HSPB8 Myopathy is described on MDA website.  

Europe: 

  • Treat NMD: Treat NMD is a network focused on accelerating the development of new treatments for neuromuscular diseases, offering resources and support for researchers, clinicians, and patients. 

  • Beacon (formerly Findacure): Beacon supports the rare disease community by building a network of advocates, providing training, and promoting collaboration to advance research and patient care. 

  • EURORDIS (European Organisation for Rare Diseases): EURORDIS is a non-profit alliance representing rare disease patient organizations in Europe, advocating for better policies and raising awareness to improve patient lives. 

  • EJP RD (European Joint Programme on Rare Diseases): EJP RD aims to create a sustainable ecosystem for rare disease research, fostering collaboration between researchers, patients, and healthcare providers. 

Human disease databases 

Orphanet: Orphanet is a unique resource dedicated to rare diseases and orphan drugs. It provides expert-reviewed information on rare diseases, including epidemiology, clinical features, genetics, and available treatments. Orphanet aims to improve the diagnosis, care, and treatment of patients with rare disorders. HSPB8 Myopathy is described in Orphanet under this link. 

GARD (Genetic and Rare Diseases Information Center): GARD is a program funded by the National Institutes of Health (NIH) that provides comprehensive information and resources on genetic and rare diseases. It offers a database of diseases, expert-reviewed information, genetic testing resources, and support for patients, families, and healthcare providers. 

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic phenotypes. It catalogues genetic disorders and their associated genes, offering detailed information on the genetic basis of inherited disorders, including clinical descriptions, genetic mapping, and links to relevant research articles. OMIM serves as a crucial resource for researchers, clinicians, and genetic counselors studying inherited diseases. HSPB8 Myopathy or MFM 13 is described in OMIM under this link.

Genetic data sharing platforms 

Patients can work with their physicians to upload their genetic information into the genetic data sharing platforms below. The aims is to facilitate research and inform clinical practice: 

MyGene2: 

MyGene2 is an online platform that facilitates the sharing of genetic information among families affected by rare genetic conditions, researchers, and clinicians. Users can upload and share genetic data and clinical information to accelerate the discovery of new genetic causes of rare diseases and promote collaboration. 

  • Who can upload data: Families affected by rare genetic conditions, researchers, and clinicians. 

  • Purpose: To promote data sharing and collaboration, accelerating the discovery of genetic causes of rare diseases and providing a resource for families to connect with others who have similar genetic conditions. 

  • Currently only one HSPB8 family is captured in MyGene2, and we encourage patients to update this information. 

ClinVar: 

ClinVar is a public archive that reports the relationships between human variations and phenotypes, with supporting evidence. Hosted by the National Center for Biotechnology Information (NCBI), it aggregates information about genomic variation and its relationship to human health. 

  • Who can upload data: Clinicians, researchers, genetic testing laboratories, and other stakeholders in the genetics community. 

  • Purpose: To provide a centralized resource that supports the sharing of information about the clinical significance of genetic variants, aiding in the interpretation of genetic data, supporting clinical decision-making, research, and the advancement of precision medicine. 

  • Clin Var lists several mutations in HSPB8 gene. We encourage health care professionals to update ClinVar as soon as they are aware of a new case. 

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