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Science Comes to Reddit

Loren Pena, a researcher from the Undiagnosed Diseases Network, and Jamie Mills, the father of a three-year-old boy named Quinn who was diagnosed with a rare genetic condition, visited Reddit for an Ask Me Anything session about rare and undiagnosed diseases

The Undiagnosed Diseases Network (UDN), which accepted its first patient in 2015, is funded by the National Institutes of Health. It works to find answers for patients with unknown disorders who have been unable to find diagnoses anywhere else. The 13 UDN sites across the country conduct basic and clinical research to improve the level of diagnosis and uncover the underlying disease mechanisms associated with these rare conditions, according to the AMA.

The discussion ranged from questions about whether genome sequencing has affected the rate of diagnosis for rare diseases ("Genome sequencing has really opened the door to identification of genes involved in known disorders, and discovery of new genes involved in human disease. The approach is quite different in terms of when to send genome sequencing and is dependent on the provider and the institution. Some providers prefer to start with genome sequencing, others may choose a targeted approach prior to genome sequencing. The genetics of rare disorders are quite varied and we are still learning whether there are specific trends," Pena says.) to how parents can be advocates for their children while also learning the fundamentals of genetics and how to navigate in the healthcare system ("This is going to sound pithy, but maybe you could try to make some friends with some medical researchers? You could ask your geneticist if there are people that might be interested in studying a rare disease. If you get professional researchers to be interested in this, then they are going to have the resources and capacity to study the disorder and apply for funding to support the study of the mutation and its treatment," Mills suggests.).

Pena also said that artificial intelligence is becoming more useful as a tool to help in the diagnosis of rare diseases, and that various apps and automated methods are becoming more common in helping clinicians develop differential diagnoses.