Resources and Links

Patient Resources

Several resources are available online. Below is a list that may be of interest to you and your family. If you would like help locating a resource not listed here, please contact us. Please note: information found on these websites is not a substitute for medical advice from a healthcare professional.

General information

• Genetics Home Reference – general information about genetic conditions in easy-to-understand language
• Trust It or Trash It? – a tool designed to help you evaluate health information you find online
• Find A Genetic Counselor – a tool for locating a genetics specialist by zip code

Family history tools

• The Surgeon General’s Family Health History Initiative –an interactive tool for recording your family history

General research opportunities

• ClinicalTrials.gov – registry of federally and privately funded clinical trials in the US and around the world

Chromosomal disorders

• Unique – information about a variety of chromosomal disorders

Ehlers-Danlos syndrome (EDS)

• The Ehlers-Danlos Society – information, research, and support for the EDS community
• Ehlers-Danlos Syndrome International Registry – opportunity to connect with other people and families who have EDS

Huntington disease

• Huntington’s Disease Society of America – information, research, and support for people and families impacted by Huntington disease

Marfan syndrome

• The Marfan Foundation – information, research, and support for people and families who have Marfan syndrome

Neurofibromatosis

• Children’s Tumor Foundation – information, research, and events related to NF1 and NF2

Neuromuscular diseases

• Muscular Dystrophy Association – information, support, resources, and research for a number of different neuromuscular diseases