Website for Ultrarare Genetic Disorders
Needle in the Genetic Haystack: How a New UW Website is Helping Families, Scientists
MyGene2, a new Web tool launched by genetics experts at the University of Washington, aims to make it easy for patients, families, and researchers to share testing data and other information about rare disorders.
It took Karen Park and Peter Lorentzen more than a year to decide to post details of their 3-year-old son’s rare genetic condition on social media — but it took just six days to hear back from another family whose child shares one of Milo’s anomalies.
When Bo Bigelow and Kate McCrann put up a website about their daughter, Tess, 6, who has another little-known genetic mutation, a doctor who studies kids with the same problem wrote back within 12 hours.
“We are so thrilled that we are laughing and crying at the same time,” Bigelow wrote in a blog post about that day. The two families, who live on opposite coasts — one in San Francisco, one in Portland, Maine — say they now understand the power of publicly sharing their families’ most personal information.
That’s why they’re among the first to join a new University of Washington website that aims to combine the massive reach of the Internet with genetic data to help families facing undiagnosed rare diseases find answers.
“Without a diagnosis, there’s no prognosis,” said Park, the San Francisco mother of Milo, now 5, who has significant developmental delays and physical problems, but no identified cause.
The site, called MyGene2, went live in March and now has more than 100 profiles posted by families, researchers, and clinicians — with more added daily. It’s one of the first advanced, searchable platforms that makes it easy to share clinical and scientific information about genetic mutations that may underlie unknown conditions.
Read more at Seattletimes.com. Special credits to the writer: JoNel Aleccia