It’s a shiny new year, and I’m ready to resume sharing my thoughts on journal articles, pending research, and patient advocacy as they relate to the various chronic hypophosphatemias.
One of my goals for the new year is to increase the reach of this blog/newsletter. If you know anyone with one of the chronic hypophosphatemias (XLH, autosomal versions, TIO), who might benefit from the blog/newsletter and isn’t already reading it, would you forward a link to them so they know about it? The more information the members of our community have, the stronger we can be as both a group and as individuals.
Last month, I linked to my favorite topics of 2021, and over the last few days, I’ve been making plans for what I’ll address in the coming year. Some of the topics I plan to write about include:
- how Social Security disability works
- overview of gene editing (the future of medicine for both rare and common conditions),
- the (somewhat dismal) status of access to state-of-the-art treatment in both the U.S. and around the world,
- relevant research needing volunteers,
- new journal articles,
- research into ENPP1 (and other ultrarare disorders) that may shed light on more general aspects of hypophosphatemia
- legislative initiatives relevant to our community,
- patient advocacy groups’ initiatives, and
- what research is NOT being done that is needed to better understand hypophosphatemia, regardless of the exact cause.
I’m still looking for additional topics to fill the year, so if there’s something you haven’t seen either in prior posts or in the list above, please let me know what you’d like to read more about. I’d love to hear from you with feedback or questions: Gin at ginjones.com
For now, here’s a link to a journal article about the new database for PHEX mutations (cause of XLH, but not the autosomal hypophosphatemias or TIO) mutations: “Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH).” It’s the result of a combination of efforts, starting with Yves Sabbagh’s original database of the mutations, and adding to it with a literature review and the results of genetic testing that Ultragenyx has been sponsoring. The database involves work across a variety of entities, from the academic to the commercial, and the results are widely available, which is the sort of work we need more of in health care research: collaboration instead of competition!
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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