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Families, Researchers from Around the Globe Discuss Groundbreaking Research

From Australia to the UK, Columbia to New Zealand and everywhere in between, families from all over the globe united outside San Francisco to fight for a cure to Jordan’s Syndrome, a rare genetic mutation linked to Autism, Alzheimer’s and even cancer.

44 families came together at the second annual Jordan’s Guardian Angels Family Conference in Burlingame, joining the Jordan’s Guardian Angels research team to learn about the latest breakthrough discoveries in our quest for a cure.

Jordan’s Syndrome, a mutation on the gene PPP2R5D, causes developmental delays, global hypotonia, and in some cases, seizures and autism symptoms.

"Jordan's Guardian Angels brought us all together... these strangers from around the world. We laughed, cried, danced, shared experiences, and built lifelong relationships,” said Carole Bakhos, project manager, whose daughter Yara has been diagnosed with Jordan’s Syndrome.

Researchers from nine universities across the U.S. and the world are joining in an unprecedented partnership to work collaboratively toward finding treatments to reverse or cure Jordan’s Syndrome. They provided promising updates on their progress, met individually with families, and collected blood samples given bravely by our children to be used for further study.

“Our research is always designed to move from bench to the bedside, from the laboratory to the patient. Having so many Jordan’s Syndrome families come together in one place makes the work we do so much more real and significant. We see the very people we’re trying to help, and it truly makes a difference,” said Jan Nolta, director of the UC Davis Stem Cell Program and the university’s Institute for Regenerative Cures in Sacramento. UC Davis is one of the institutions partnering on the research.

More than 80 people across the world have been diagnosed with Jordan’s Syndrome, though it’s believed there could be hundreds of thousands of undiagnosed cases.

The Jordan’s Guardian Angels global community was well-represented in Burlingame, with attendees from: Argentina, Australia, Austria, Canada, Colombia, Denmark, India, Ireland, Israel, New Zealand, Norway, Sweden, the Netherlands, the United Kingdom and multiple states across the United States.

“We now know, without a doubt, that we will never feel alone on this journey again,” Bakhos said. “We will continue to march hand in hand, motivated by our children. Our hard work and determination will make a difference in this world; it just has to!"

A huge thank you to all of our families, many of whom traveled thousands of miles to be in Burlingame. Without you, this journey would not be possible. Thank you to our international dream team of researchers, whose brilliance and dedication is driving this research forward to find answers that may help unlock answers for not only our children, but potentially millions more. Finally, we would be remiss without thanking Tree House Tribes, whose volunteers led multiple children's workshops throughout the conference.

Published

April 4, 2019

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Closer to a Cure: 2018 Year-in-Review

In 2018, the Jordan’s Guardian Angels global community came together to push us closer than ever to a cure for Jordan’s Syndrome.

From research breakthroughs, to securing a multi-million dollar grant from the State of California, our progress continues at lightning speed. It wouldn’t be possible without our brilliant researchers, our incredibly generous supporters, and most of all, our families whose dedication is driving us forward.

Our Research

  • Researchers have confirmed what they long believed: Jordan’s Syndrome, a mutation on the gene PPP2R5D that causes developmental delays and low muscle tone, is reversible.
  • Initial research revealed Jordan’s Syndrome is linked to autism, Alzheimer’s, intellectual disabilities and cancer. It’s now thought the genetic mutation may be connected to even more of the most pressing medical mysteries the world faces today.
  • In 2018, nearly $500,000 was spent in support of the research.
  • A $12 million grant was allocated by the State of California to support groundbreaking research into Jordan’s Syndrome.
  • Medical investigators and geneticists are studying skin cells bravely given by our children to better understand how Jordan’s Syndrome functions. Our team will explore the use of cutting-edge tools like Crispr for treatment.
  • Stem cell lines and neurons are being created, as tools for therapeutics.
  • Click here for an in-depth look at the potential worldwide impacts.

Our Families

  • Our global community nearly doubled in size. We are now connected to 77 families across the world.
  • The 2019 family conference is scheduled for next March outside San Francisco, California. We are excited to have dozens of families attending from all over the world to meet face-to-face with our entire research team.

Our Community

  • Thanks to the generous support of our global family, Jordan’s Guardian Angels raised more than $500,000 at multiple fundraising events. We can’t begin to express our gratitude!
  • While the State of California grant will support initial research efforts, much work remains. Your continued support is more critical than ever.

Cheers to another great year in 2019! Together we will continue to climb over any hill or mountain that come our way as nothing will stop us from getting to our goal! We owe it to ALL of our children!

Follow our journey and connect with our community on social media!

www.facebook.com/PPP2R5D

www.twitter.com/PPP2R5D

Published

January 11, 2019

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Families, Researchers Unite in D.C.

We came from as far as Columbia, New Zealand and Europe. Families from around the globe and the Jordan's Syndrome international research team were in one place for the first time, a milestone for all of us.

The first-ever family conference outside Washington, D.C., officially kicked off the study we believe will change the world. More than two dozen families impacted by Jordan's Syndrome were in attendance, and heard presentations from our researchers about the PPP2R5D mystery. Blood samples were also collected from children diagnosed with Jordan's Syndrome.

The conference, sponsored by Jordan's Guardian Angels, had three main goals:

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"Families got a chance to ask the questions that have been on their minds and got a better understanding of the genetic variation and its impacts."

Dr. Wendy Chung, lead medical investigator on the study, gave an overview presentation about PPP2R5D, followed by a panel discussion. Families got a chance to ask the questions that have been on their minds and got a better understanding of the genetic variation and its impacts.

Families also had opportunities to have one-on-one time with Dr. Chung and Dr. Ghayda Mirzaa, and had their children evaluated by them.

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PPP2R5D Panel Discussion

On Saturday, booths were set up with experts available to provide information about autism, sensory disorders, anat baniel method, and assistive technology. Also on Saturday, Nancy De Orta, one of our parents, gave haricuts to some of the children. For some of them, it was their very first one! 

Renowed advocate and film producer Joey Travolta was a guest speaker and interviewed parents and collected footage for a documentary his company, Inclusion Films, produced about Jordan's Syndrome. The local FOX affiliate in Washington, D.C., came for a follow-up story to their original report featuring a local family.

We capped off the day with a private tour of the U.S. Capitol.

The conference brought us closer together than ever. Though we connect on Facebook every single day, many of us hadn't met before in person. Despite being from different parts of the world, our common bond is strong.

Perhaps more than anything, seeing the children play together and watching the connection they share was a powerful reminder of why our mission is so important.

Blood samples collected from the children are now at the New York Stem Cell Foundation, and are on their way to being converted into brain cells. Every step in this study is worth celebrating. We're on our way!

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Published

August 7, 2017

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Research Team Meets in Phoenix

In an incredibly important step on our journey, the research team met together in person for the first time! Dr. Wendy Chung, lead medical investigator on the Jordan's Syndrome study, helped assemble what she called a dream team that together could solve the PPP2R5D mystery.

We'd created a introductory letter explaining the purpose of Jordan's Guardian Angels, inviting potential research partners – the best and brightest in their respective fields, in the world – to join our team. We were beyond thrilled that every researcher we asked said yes. In order to officially kick off the research effort, a workshop was planned that brought all the newly-formed research team together. The workshop took place in Phoenix on March 24th and 25th of 2017.

"Many of the researchers indicated that, before that night, they hadn't made a link between the work they do in the lab and how their work directly impacts children and families."

On the 24th, the research team gathered with Jordan's Guardian Angels. Several of us spoke about our hopes for the research and what it may mean for our children. Researchers also watched a presentation with pictures of our children. It had an immediate impact. Many of the researchers indicated that, before that night, they hadn't made a link between the work they do in the lab and how their work directly impacts children and families.

The 25th was a full day of presentations. Each of the researchers made presentations about their work as it pertains to this research – and make no mistake, this is complicated, cutting-edge stuff. We're so fortunate to have them on our team! Click here to view the agenda for the event, including the list of researchers and the topics they covered that day.

The day concluded with a brainstorming session where all the high priority work for the next year was listed and divided between the team members. Researchers were each asked to provide a proposal to Jordan's Guardian Angels, detailing how they'll complete the work they signed up to do, and the budget required for completion over the next year. We came away from the conference more excited, committed and confident than ever!

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Published

March 28, 2017

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Jordan’s Guardian Angels is a public charity exempt from Federal Income Tax as an organization described in Section 501 (c)(3) of the Internal Revenue Code, EIN 90-1022228. Contributions to Jordan’s Guardian Angels are tax deductible to the fullest extent allowed by law. No goods or services were provided in consideration for the contributions except as reported above.