Bruce Windoffer’s Post

Where is a Kleenex when you need one?! That's what I wondered last week during a screening of the award-winning documentary, "UNDIAGNOSED," hosted by Rady Children's Institute for Genomic Medicine. Beyond the emotional aspects of this documentary, though, is also a call to action. We met families and patients living with the crushing weight of undiagnosed illnesses, but also heard a passionate plea from creator and co-director E. Katia Moritz, Ph.D., for a biological and data repository, among other recommendations. The repository needs to not only store and make accessible biological samples from these patients, but also their associated data – a critical piece of the puzzle for unlocking diagnoses and potentially new treatments. Katia related it to unsolved murder investigations which keep, and store them as cold cases to be picked back up when new leads come in. Is anyone currently working on creating this shareable resource that could revolutionize undiagnosed illness research and assist new patients to find help? It was great to see Steve Grossman, E. Gay Grossman, and Caroline Cheung-Yiu with her son in attendance – all of whom were featured in the film. I would love to help secure additional screenings of #UndiagnosedFilm - anyone want to join me? Oh, and a Pro tip for future screenings: have a well-stocked supply of tissues distributed amongst the audience! https://lnkd.in/gJYeGA8f

This is kinda, sorta a new job announcement, but not really 'cause I've been working at this for a little while as a hobby - but, since I'm *technically* retired now, I will be spending more time making and restoring violins. So....if you happen to be in the San Diego area, I will be giving two violin-making presentations at the San Diego County Fair. Come by, and who knows...You may be lucky enough to find yourself in a photo op, behind the scenes with me! (or maybe that's un-lucky?! ) Two dates: - Saturday, June 15, 6:30-8:30pm - Saturday, June 23, 6:30-8:30pm Hope to see you there, and let me know if you have a family heirloom violin collecting dust in the attic. I'd LOVE to get it singing again!

It is now in your hands! I posted a couple weeks ago about my retirement, and today it arrives: my last official day at Rady Children's Institute for Genomic Medicine. This announcement on their page was quite unexpected, and very touching. Thank you!! OK folks - it's now up to all the rest of you to accelerate and expand the use of precision medicine - and specifically, diagnostic rWGS for rare genetic diseases. I will be watching!!!

❓ What is the best word for it - retirement? Maybe, maybe not, but it will do for now. I will be stepping down at the end of this month, retiring from the most inspirational and impactful team I could ever have imagined being a part of. What was supposed to be a 6-month stint turned into 3 years! Thank you Stephen Kingsmore, Russell Nofsinger, Wendy Benson and every dedicated soul at Rady Children's Institute for Genomic Medicine. This was the best way to end the "regular" stage of my professional career. I jumped out of bed almost every morning to come to work with you all. 🎉 ⚕ Although I'm stepping down and retiring, there is no way I can step away completely from the fields of clinical genomics, precision medicine, and rare genetic disease; I've seen and heard too much and will look for ways to help the progress that needs to continue, even accelerate. This 2nd attempt at retiring is harder than the first for two reasons. Rather than being in a remote, field position for most of my career, at Rady I work in an office at a hospital seeing my colleagues day in and day out. I will miss that terribly. Secondly, this role allowed me to experience the direct impact our roles have on critically ill babies and getting their families answers. 📸 I snapped this picture at our recent Frontiers in Pediatric Genomic Medicine conference which shows three people who have influenced me in a massive way: Stephen Kingsmore needs no introduction (love the look on his face!). His mission-driven approach to ending the diagnostic odysseys of kiddos with rare genetic disease inspired me. Katy Cairo (right) and Michaelle Jinnette, two amazing "rare disease moms," and representative of others, have put a burden on my heart by reminding me (and all of us!) that there is so much more to do for these innocent little ones to reduce the overwhelming suffering that many rare diseases bring to them and their families. 🔮 What professional opportunities may lie in the future, I do not yet see clearly. But this pause of daily responsibilities to a paid position will allow me more freedom to incubate and explore ideas. I will not be idle, however, enjoying my other loves: performing #chambermusic, #violinmaking (I am giving two demonstrations at the SD County Fair in June!), #amateurastronomy, #Filmproducing, and family (5 grandkids!). Learn about Katy's beautiful daughter Aela and the PDCD foundation: https://lnkd.in/gxBwFQjd Hope for PDCD Foundation and Michaelle's precious son Tristan and the KCNH1 foundation she co-founded: https://www.curekcnh1.org/ #rapidprecisionmedicine #raredisease #geneticdisease #clinicalgenomics #wholegenomesequencing #genetictesting #rwgs #hopeforpdcd #KCNH1 #CureKCNH1

Great opportunity to work at a mission-driven (not profit-driven) institute. I'm thinking primarily about many in my network who may recently have been, or fear they will be, layed off from a company. Such an inspiring place! #Illumina #ngs #raredisease #labdirector #clia #precisionmedicine #diagnostics #moleculardiagnostics #wholegenomesequencing

🛏 🤸♂️ Would you like to spring out of bed in the morning knowing that your work that day will help lift the burden off a young family with a desperately sick newborn baby? Then come work with me at the most inspiring place on the planet - where we pioneered the rapid, clinical, whole genome test to quickly diagnosis NICU babies with rare and ultra-rare genetic diseases. I can't guarantee that every day will be like that, but you will have more of them than almost any other job on this planet (maybe the universe!). Among other responsibilities, you will be interacting with children's hospitals across the country - physicians, geneticists, genetic counselors, and lab staff - to inform and to troubleshoot to ensure little patients get the information they need as quickly as possible. See the details at the link, below - and I'll see you at the water cooler! #jobs #csr #csrjobs #genomics #TeamRadyGenomics

Ultra-rapid whole genome sequencing (urWGS) was the key which informed doctors that treating his condition would not work - he needed a heart transplant. #wholegenomesequencing #precisionmedicine #hearttransplant #RapidPrecisionMedicine #genomics

Do you understand why this candidate should be on your short list for new hires? If you don't know, the PLNU Biology-Chemistry program has been recognized by the San Diego Regional Economic Development Corporation as Preferred provider for life science talents. I, personally, know of several PLNU graduates who were key to the success of companies. And Taylor put the icing on the cake with a PhD from UCSD. 💲 Bid soon, and bid high - she will be snapped up quickly and you will miss out! #lifescience #opportunity #talent #hiring #toptier #plnu #illumina #danaher #biovia #sandiegojobs #lifesciencejobs #biotechnology

How best to summarize our just-concluded Frontiers in Pediatric Genomic Medicine conference? It's difficult, but let me try, with a picture!!! To choose one picture that best describes, to me, this week's conference, this has to be it. First - on the presentation screen - it's the little kiddo and the parents who represent the reason we all do what we do: Ultra-Rapid whole genome sequencing to diagnose rare disease as quickly as possible - hours count, let alone days. We spend so much on healthcare at the end of one's life to extend it by a few months or a few years, but so little on the ones at the very beginning who can benefit the most with decades ahead of them. Trying not to be too hyperbolic, but sitting on the stage are four remarkable folks who have been critical to moving the needle for broader access to rWGS/urWGS for rare disease. From the seminal case of Nicholas Voelker to the highly cited Project Baby Bear, David Dimmock is a pioneer in genomic medicine (and a major factor in my failure at retirement to come work here - but that's another story!). The first Medicaid policy to separately reimburse (as a carve-out) for rWGS testing would not have happened if Caleb Bupp, clinical geneticist, Andrea Scheurer-Monaghan, Neonatologist, nor Laura Appel, Michigan Health & Hosp Assoc, were not "dog on bone" with their efforts in Michigan. Their - and others' - efforts have created the prototype for the rest of the states (Not to single any out, but California??). Of course there are many, many others working tirelessly towards the same goal. But they are not in this picture! Additionally, and significantly, diagnostic WGS is only part of the picture as much of the conference focused on moving the use of WGS towards earlier use to screen newborns. #rWGS #GenomicFrontiers23 #GenomicsFrontiers23 #RadyGenomicsInstitute #wholegenomesequencing #precisionmedicine #raredisease #wgs #nbs #newbornscreening Rady Children's Institute for Genomic Medicine