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Global Genes Patient Summit 2017
Arginase-1 Deficiency and the French Fries Diet
To avoid arginine accumulation, patients with Arginase-1 deficiency must be on an extremely low protein diet.
Pharma, the FDA, and the Patient's Voice
Stratton said it is the responsibility of the patient community to let pharma and the FDA know what is important to patients.
An App to Help Advocates Groups Collect Patient Data
monARC Bionetworks provides their mobile apps for free to advocacy groups to help them organize their patient data.
Making Patients the Focus of Pediatric Clinical Trials
Mark Sorrentino, M.D. of PRA Health Sciences talks about changing clinical trial designs to make them more convenient for patients.
Whole Exome Sequencing for Rare Diseases
3 billion is a small biotech company that plans to provide kits for people to test their entire exome for rare disease mutations.
How to Train Your Seizure Dog
Seizure dogs are trained to recognize changes in scent of their owner’s saliva during a seizure and use that signal to secure the patient.
Genetic Data Sharing
Accredited researchers can obtain genomic information on a variety of condition, including many rare diseases.
What Clinicians Need to Know About Lipodystrophy
Lipodystrophy is a group of rare diseases characterized by the lack of fat tissue.
Epilepsy Awareness Day at Disneyland
This is the 5th anniversary of the event with an estimated 2500 people expected to attend.
Team Impact - Bringing Athletes and Patients Together
Team Impact is a non-profit organization that brings together collegiate sports teams with children who have rare and chronic conditions.
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