Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
CRISPR Finds Genetic Suspects Behind ALS/FTD
March 13, 2018
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
ALS Clinical Trials Guidelines February 2016
Location: Warrenton, VA
Description: Specific Aims: 1. To finalize the formation of an Organizing Committee and Advisory Board of international ALS physician and physician-scientist volunteers to develop and organize an international meeting that will update the present ALS clinical trial guidelines; 2. To hold an international conference o review the issues and current status of clinical trials; 3. To discuss and develop guidelines for ALS RCTs; and 4.To publish the guidelines in major neurology journals and promote implementation of these guidelines into future ALS trials.
Contact: Robin Conwit, (301) 496-9135,email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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