When Cold Case Reviews Reveal New Information
"Although TGen's Center for Rare Childhood Disorders has helped hundreds of patients end their diagnostic odysseys, there have been cases we couldn’t solve. But thanks to an exciting collaboration with the industry leader in sequencing, Illumina, these cold cases will receive a boost through improved technology that enhances TGen’s sequencing capabilities, which will mean more answers for more families."
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www.tgen.org/news/2021/april/when-cold-case-reviews-reveal-new-information/

Alex's name is one of the 10.9 million names on board the NASA’s Mars 2020 rover, Perseverance. launched from Cape Canaveral Air Force Station in Florida on 30 July 2020. Perseverance will be landing on Mars on 18  February 2021. Read full stories here:

Kinnerup T. (2020) “Mars Rover to Carry Name of Teen with Rare Disorder and Arizona Ties”, KTAR News 92.3 FM, 24 July. Available at:
https://ktar.com/story/3425980/mars-rover-to-carry-name-of-teen-with-rare-disorder-and-arizona-ties/

​Carilla C. (2020) “Latest mission to Mars a special moment for teen with Arizona ties”,  Fox10 Phoenix, 29 July. Available at:
https://www.fox10phoenix.com/news/latest-mission-to-mars-a-special-moment-for-teen-with-arizona-ties

After speaking to Science Desk Journalist, Richard Harris at the Global Genes Patient Advocacy Summit, Alex's 12 year diagnostic journey was featured on NPR "Morning Edition". Read full story here:

Harris R. (2019) “A boy’s mysterious illness leads his family on a diagnostic odyssey”,  NPR. 19 October. Available at: https://www.npr.org/sections/health-shots/2019/10/16/769462793/a-boys-mysterious-illness-leads-his-family-on-a-diagnostic-odyssey

Yahoo news just published article regarding IRF2BPL disorder.

Belkin L. (2019) “DNA Detectives: New Tech can mean a diagnosis for your child, but not a lot of answers”, Yahoo News, 26 July. Available at: https://news.yahoo.com/in-unknown-territory-parents-get-a-roadmap-from-undiagnosed-diseases-network-090000192.html

After more than 10 years with no diagnosis, in the fall of 2018, by miraculous intervention, Alex was a cold case revisited at TGen’s Center for Rare Childhood Disorders and this yielded a diagnosis! See full interview at The ASHG Annual Conference in 2018 here:

(2017) “Alex Undiagnosed: A Neurodegenerative disease goes unsolved”, Global Genes 1 March, Available at:
https://globalgenes.org/2017/03/01/alex-undiagnosed-a-neurodegenerative-disease-goes-unnamed/

The Undiagnosed documentary production team, Boston Children's Hospital and Illumina launched the Clarity Undiagnosed Challenge to gather the world's top research teams in a contest to diagnose 5 patients whose medical mysteries have baffled physicians. 

(2015) Clarity Undiagnosed Family & Results
https://www.childrenshospital.org/research/centers-departmental-programs/manton-center-for-orphan-disease-research/clarity-challenge/families-results

Goldberg.C (2015) "Calling all gene detectives: Solve Diagnostic Mysteries to win contest. Play role in film." WBUR, June 19. Available at:
https://www.wbur.org/commonhealth/2015/06/19/diagnosis-mystery-gene-film

It was a weekend of fun and joy together with other undiagnosed families at The National Ability Center in Park City, Utah.

https://www.undiagnosedfilm.com/
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