Category Archives: news

news


CoA-Z Clinical Trial Update

It’s hard to believe it, but the CoA-Z clinical trial started way back in December 2019 when we had no idea how much all our lives were about to be upended by a global pandemic. Many of you have reached out since then to ask for updates and to find out when results will be […]

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Update on BPAN

A scientific paper about BPAN recently published in the journal Autophagy has created some confusion within the community of BPAN families, friends, and caregivers. Entitled “WDR45, one gene associated with multiple developmental disorders,” the paper suggests that gene mutations in WDR45 lead to six separate disorders rather than just BPAN. As you can imagine, this […]

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A paper from the Sibon lab reveals important insights into biochemical changes in PKAN and related disorders

Dr. Sibon’s group in the Netherlands has published a paper that reveals important insights into the biochemical changes in PKAN and related disorders (CoPAN, MePAN and PDH-E2 deficiency). It reports work done largely by Roald Lambrechts (who just got his PhD yesterday!) and others in the Sibon lab. Dr. Sibon has also written a FAQs […]

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MEPAN Page Added to Website

Approximately two years ago, our team worked with researchers in Israel and several other countries to discover a new disease-causing gene called MECR. Mutations in this gene cause a condition that we named MEPAN, which stands for “mitochondrial enoyl CoA reductase protein-associated neurodegeneration.” Although MEPAN does not cause brain iron accumulation, both the symptoms and […]

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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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