Category Archives: news

news


Searching for a Diagnosis using Whole Exome Sequencing

This article and other news can be found in the latest issue of our newsletter which can be downloaded/viewed here: August 2018. In 2014 the Hayflick lab started a project with the University of Washington to sequence DNA for our patients who did not yet have a genetic diagnosis. These 54 subjects had symptoms similar […]

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Is BPAN the Most Common NBIA Disorder?

This article and other news can be found in the latest issue of our newsletter which can be downloaded/viewed here: June 2018. No one can say exactly how many people in the world have a NBIA disorder, but we can guess based on how many people have been diagnosed so far. Today, PKAN is the […]

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Introducing the Spoonbill Foundation

As promised, here are updates on the fundraising questions you had about CoA-Z, the possible treatment of PKAN that we are developing. Our goal is to make CoA-Z available to everyone at the lowest cost possible so we have formed sister non-profit foundations in the Netherlands and US to further develop the compound. The link […]

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Decades-long Search for Diagnosis Finally Reaches Conclusion

When Mike Cohn was 15 years old, his unique medical history was described in the well-known medical journal, Neurology. Mike had seizures as a baby, and he reached his motor milestones later than other kids his age. When he turned 8, he felt like his world was turned upside down. Walking became increasingly difficult due […]

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“Best Practices in PKAN” is now published!

Our team is excited to announce that we and several of our collaborators have developed a set of guidelines called “Best Practices in PKAN.” These guidelines provide recommendations and instructions for taking care of a child or adult with PKAN. They will be a valuable resource for patients themselves and for any doctors they may […]

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Upcoming: The 2017 NBIA Scientific Meeting

This upcoming scientific meeting will allow researchers studying NBIA disorders to come together to share their findings, discuss potential therapeutics and plan projects/collaborations. The 6th International Symposium on NBIA & Related Disorders will taken place April 7th-8th, 2017 at Skamania Lodge in Stevenson, WA. If you are a researcher studying NBIA and related disorders, please […]

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Summary of 2016 BPAN Research Meeting

A summary of the 2016 BPAN Research Meeting in Portland is now up on our website! Check it out to learn about what we did, see lots of pictures of the wonderful children and families who attended and read the research updates we shared at the symposium. We can’t say thank you enough to everyone […]

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