The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Neuronal loss in
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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May 10, 2016
Third Genome Dynamics in the Neurosciences Conference Sunday, July 18, 2010 -
Thursday, July 22, 2010
Location: The Hilton Metropole, Brighton, England
Description: The goal of this meeting was to integrate basic processes of DNA damage signaling and repair and clinical aspects of neurological and neurodegenerative disease. The program was designed to bring together leading scientists with primary interests in DNA damage signaling with those working in specific related neurodegenerative disease areas as a means for integrating these fields. It was anticipated that this would generate insights into how normal processes of genome maintenance in the brain contribute to the prevention of a wide range of diseases.
Contact: Dr. Danilo A. Tagle, NINDS(301) email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have had insomnia for months and believe I have fatal familial insomnia. The doctor says my sleep study shows I don't have it. How can he tell? See answer
Can you please tell me if there is a blood test that can determine if I have FFI? I have a very extreme insomnia. See answer