2018 – Jordan's Guardian Angels

Swing for Charity Event Raises Hundreds of Thousands

Under brilliant blue skies, dozens hit the links in South Lake Tahoe for a good course: raising money to help Jordan’s Guardian Angels cure Jordan’s Syndrome, a recently-identified mutation on the gene PPP2R5D. And – it was an incredible success. Thanks to more than 80 sponsors and guests, the second annual Golden State Classic at Edgewood Tahoe raised more than $270,000!

We decided to add a little sizzle and fun to cocktail Party on Thursday night, so we created a $1 million hole-in-one contest. That’s right – 15 lucky sponsors were chosen out of the attendees to take a swing for $1 million dollars. One by one, they took their swings on the ninth hole, but wind coming in off the lake made for difficult conditions. We all had a great time watching them try their best!

Then, guests were treated to an update on our promising research progress, featuring a short video and an in-person discussion with Kyle Fink, Ph.D., from the UC Davis Institute of Regenerative Cures. Attendees learned first-hand about recent breakthroughs that show Jordan’s Syndrome is reversible.Watch the video below!

Then, it was time to swing for charity on a picture-perfect Friday morning. You may remember that golf was canceled last year due to unseasonal September snow, but this year, the fairways were pristine, it was 83 degrees, and we were back to making birdies instead of snow angels.

Matt Back and Terry Brennand tied for the GSC Angles Cup with 79’s. Matt Back won the Angles Cup Trophy in a playoff!

We want to thank our presenting sponsor, Norwood Associates, and our major sponsors, Altria, California Independent Voter Project, District Council 16 International Union of Painters & Allied Trades, and Walmart.

We also want to take a moment to appreciate our supporting sponsors: Aaron Read & Associates, American Beverage Association, Amgen, Boehringer-Ingelheim, BBC Public Affairs, Bob & Sara Giroux, Brandenberg Group, Buena Vista Construction, California Cable & Telecommunications Association, Capitol Alliance, Carter Wetch & Associates, California Beer & Beverage Distributors, CSEA, DaVita, Fanslau Government Affairs, Farmers Insurance Group, Fernandez Government Solutions, Five Star Bank, George & Wendy Miller, Larisa Cespedes, McHugh, Koepke & Associates, SEIU – Statewide, Sloat Higgins Jensen & Associates, Sycuan Band of the Kumeyaay Nation, Southern California Painters & Allied Trades – District Council 36, Uber, Villines Group, and Wayne Ordos, Attorney at Law.

Finally, we want to thank our legislative supporters: Assemblymember Ian Calderon (AD 57), Senator Anthony Cannella (SD 12), Assemblymember Heath Flora (AD 2), Assemblymember Adam Gray (AD 21), Senator Richard Pan (SD 6), and Assemblymember Phil Ting (AD 19).

It goes without saying, but we can’t continue our mission to cure Jordan’s Syndrome without each of your support. On behalf of Jordan’s Guardian Angels and our families around the world who will directly feel the impact of this inspiring generosity, thank you!!!

Events - 08/29/2018

VIDEO: Medical Investigators, JGA Team Reveal Research Progress

Events / Research - 08/20/2018

One Year Later: Progress After the 1st Family Conference

One Year Later

One year has passed since families from around the world came together for the first-ever Jordan's Guardian Angels family conference in Washington, D.C. In a matter of months, incredible progress has been made in our quest to cure Jordan's Syndrome, a recently-identified mutation on the gene PPP2R5D linked to autism, Alzheimer's, intellectual disabilities and cancer.

Here's a look back at the major milestones we've reached since that first family conference held in August 2017.

Closer to a Cure

Our Growing Community

The Jordan's Guardian Angels global family has nearly doubled in size, from 35 to now more than 60 families impacted by Jordan's Syndrome.

Researchers Come Together

Jordan's Syndrome is reversible. That was the major conclusion of our international research team in late 2017.

Our team of researchers, scientists and medical investigators held multiple in-person meetings, discussing early discoveries made during initial research. Our team came together in December 2017 in New York City, and again in July 2018 in Denver.

Worldwide Support

Thanks to the inspiring generosity of communities around the world, we have raised hundreds of thousands of dollars at multiple fundraising events in Houston, Texas; Lake Tahoe, California; Phoenix, Arizona; and Belfast, Northern Ireland, to name a few.

State of California Funding (July 2018)

A Funding Foundation

In a milestone moment, the State of California supported our research with a $12 million allocation in the state budget.

Our Work Isn't Done

The funding will help provide for the first phase of the project, though we must still secure additional resources to take additional steps toward curing Jordan's Syndrome.

First iPSCs Created (April 2018)

The first batch of iPSCs (induced pluripotent stem cells) have been created by the New York Stem Cell Foundation (NYSCF), and distributed to Rutgers University for duplication and distribution.

The iPSCs were created from blood samples given by our children at the first family conference in Washington, D.C., and will play a critical role in understanding Jordan’s Syndrome – and how it may be reversed, treated or cured.

Click here to learn more!

First PPP2R5D Mouse (Jan. 2018)

Our first mouse with a verified PPP2R5D mutation was created in early 2018. Researchers will study mice modeled with the PPP2R5D mutation to better understand how Jordan's Syndrome causes developmental delays, and begin to explore potential ways to treat, reverse or even cure the mutation.

International Attention

Media outlets from around the world have helped spread awareness about Jordan's Syndrome research – and its potential to help unlock some of the world's greatest medical mysteries. Television stations and newspapers in Sacramento, Houston, Denver, Israel, the United Kingdom and beyond have shared the stories of our families, and the amazing possibilities our research holds.

See media coverage here!

Research - 08/08/2018

Early Research Milestone Reached; What are iPSCs?

We’ve arrived at a key early milestone in our research into Jordan’s Syndrome, a recently-discovered genetic mutation in the gene PPP2R5D thought to be linked to autism, Alzheimer’s, intellectual disability and cancer.

The first batch of iPSCs (induced pluripotent stem cells) have been created by the New York Stem Cell Foundation (NYSCF), and distributed to Rutgers University for duplication and distribution. The iPSCs were created from blood samples given by our children at the first family conference in Washington, D.C., and will play a critical role in understanding Jordan’s Syndrome – and how it may be reversed, treated or cured.

But – how exactly will that happen? And why are iPSCs so important? We asked our friends at the NYSCF to help explain.

How were the iPSCs created?

NYSCF: Scientists create induced pluripotent stem cells, or iPSCs, by taking a small amount of blood or skin from a patient, and converting these blood or skin cells into a pluripotent state using genetic signals called reprogramming factors. These pluripotent cells are able to multiply indefinitely and also can be coaxed into turning into any type of cell in the body, making them a unique and powerful research tool.

iPSCs enable scientists to study the cells affected by disease in the lab without harming patients. For example, the iPSC lines we are making in collaboration with Jordan's Guardian Angels will allow researchers to study patient-derived brain cells without brain surgery.

Because Jordan’s Syndrome is a rare disease with only a few dozen known patients worldwide, the stem cell lines we are making will provide a foundational resource for researchers who may not have easy access to patients. These patient-specific iPSC lines will be an invaluable tool for Jordan's Syndrome researchers around the world.

How many were created?

NYSCF: So far, NYSCF scientists have created five iPSC lines using blood samples from five different Jordan’s Syndrome patients. Each of these patients has a unique mutation in the gene implicated in the disease, PPP2R5D. Since the disease is so rare, these 5 lines represent a diverse segment of patients.

In addition to creating iPSC lines from additional patients, we are also planning to use stem cells to study the genetics of Jordan's syndrome. Using cutting-edge gene editing technology, our scientists will introduce PPP2R5D mutations into stem cells from a healthy individual. This 'manufactured disease line' will allow scientists to study the specific effects of disease-causing mutations, without being confounded by other differences between patients and healthy people that may be unrelated to the disease.

How can stem cells be used to find potential breakthrough treatments for Jordan’s Syndrome, and potentially related medical mysteries?

NYSCF: Stem cell technology allows scientists to create the different cell types affected in Jordan's Syndrome as patient-specific models of the disease. Modeling Jordan’s Syndrome in a dish using stem cell technology enables scientists to study how the disease develops in different cell types and affects their behavior over time. For example, scientists can derive patient neurons from stem cells, and even combine different types of patient brain cells into 'mini-brains' known as organoids, to study how brain function and the interactions between different cells are affected in Jordan's Syndrome. By enabling a better understanding of the disease and clarifying the cellular and molecular defects driven by the genetic PPP2R5D mutations, stem cell technology may point to treatments that can fix these defects and therefore alleviate disease symptoms.

Stem cell technology also allows new drugs to be directly tested on affected cells or organoids, to see if they have a beneficial effect. This "clinical trial in a dish" approach can help to identify new treatments that may be helpful for certain patients and ineffective – or even potentially toxic – to others.

The cellular processes that go awry in Jordan's Syndrome may well be playing a role in several other diseases – for example, the gene implicated in Jordan’s syndrome is also associated with autism, Alzheimer’s disease, and cancer. Stem cell technology has already advanced research into neurological diseases and cancer, just as we expect it will in Jordan's syndrome. A better understanding of what goes wrong in Jordan's Syndrome will help us understand how the processes in human development are supposed to work, and offer insights into other ways they go wrong in related diseases. There are mounting examples of rare disease research that have taught us something new about common diseases and how to treat them. So a new way to study the dozens of patients with Jordan's Syndrome could end up advancing knowledge and treatments for diseases that affect millions.

Give some perspective on how revolutionary this kind of science is, and its promise for medicine.

NYSCF: Stem cell research is a very young field. Embryonic stem cells were only first isolated in 1998, and the field drastically changed in 2006 with the development of induced pluripotent stem cells by Dr. Shinya Yamanaka, who received the Nobel Prize for this work just six years later. iPSCs made it possible to derive patient-specific cells, fueling the "disease-in-a-dish" and "clinical trial in a dish" research that has never been possible.

So the field has only really been in existence for just over a decade. It is truly the cutting edge of scientific inquiry with new discoveries, tools, and technology published every day. It is such an exciting time to be a stem cell researcher – as well as a disease researcher, because of the opportunities afforded by stem cell technology.

The promise of stem cell research is vast. At some point in our lives, we or the people we love become patients. Traditionally, much disease research and drug discovery have been performed using mouse models. But we are not mice, and to treat diseases more effectively we need to understand how diseases and drugs affect human cells – especially the types of cells involved in the disease. Taking brain cells out of patients to study them in the lab is not usually an option, but stem cell technology makes this type of research possible. The opportunity to create patient-specific stem cell lines has been revolutionary, because each patient is different, in what causes their disease, the way the disease manifests, and how they will respond to drugs. Stem cell research will therefore allow us to understand and treat disease in a more precise and personalized way than ever before possible.

Ultimately, our mission at NYSCF – and the goal in all of our collaborative stem cell projects – is to accelerate research towards cures for all devastating diseases, including Jordan’s Syndrome.

Research - 07/30/2018

Research Update: Team Meets in Denver, Reports Progress

The Jordan’s Guardian Angels research team converged in Denver, Colorado last weekend to collectively discuss the progress made in our quest to reverse, treat or cure Jordan’s Syndrome, a recently-identified mutation in the gene PPP2R5D.

The meeting came shortly after the State of California allocated nearly $12 million in this year’s state budget to help fund our research. Jordan’s Guardian Angels is partnering with the UC Davis Institute for Regenerative Cures to facilitate the distribution of the funding. The Institute is also providing important support in multiple research functions, joining our international team of scientists and geneticists.

“Researchers are working together in a way that I’ve never seen researchers work together and pull together,” said JGA lead medical investigator Dr. Wendy Chung. “We have the best and the brightest in the world being able to think together, and the energy you can feel coming out of this is just exhilarating.”

Substantial milestones have been reached since the last time the research team met in December in New York City. The first collection of induced pluripotent stem cells (iPSCs), created from blood samples given by children impacted by Jordan’s Syndrome, were produced and distributed by the New York Stem Cell Foundation and Rutgers University.

“The iPSCs are useful to study how the PPP2R5D variants affect cell behavior,” said JGA researcher Dr. Richard Honkanen. “These studies will help us understand what is different in the variant cells versus normal cells. Finding out what is wrong represents the first step in the development of a potential cure.”

Several mouse models have also been created, so researchers can further study the impacts and causes of Jordan’s Syndrome. Our medical team also provided detailed updates regarding newly-produced clinical data, shedding further light on the genetic mutation and its specific variants. More than 60 people have now been diagnosed with Jordan’s Syndrome worldwide, though it’s believed there could be hundreds of thousands of undiagnosed cases.

“The amount of work that’s been done in the first year is pretty amazing,” said Jordan’s Guardian Angels co-founder Joe Lang. “10 years ago, it would’ve taken 10 years to get that first year’s work done. That’s how fast it’s moving.”

In the days and weeks following the Denver workshop, our researchers will develop a plan plotting a broad course of the study over the next three years. Momentum continues to build toward reaching our goal of treating or reversing Jordan’s Syndrome. The genetic mutation is also believed to be linked to – and may bring breakthroughs for – autism, Alzheimer’s and cancer.

Research - 07/23/2018

Our Global Community: Students Go Above & Beyond

In today’s edition of “Our Global Community,” we’re celebrating the incredible, life-changing bond between 9-year-old Francis Grant, one of the 60-plus children in the world diagnosed with Jordan’s Syndrome, and his fellow classmates.

Francis has attended Letterkenny Educate Together in Donegal, Ireland, for three years. The elementary school fosters an open, inclusive atmosphere for students to learn and grow together. But it wasn’t an easy choice to send him to school.

“Taking Francis into school was one of the hardest decisions to make for me,” said Francis’ mom Gina in a post to the school’s Facebook page. “I had him at home with 24/7. The thought of him being with strangers – and because he has no communication – I was heartbroken thinking he wouldn’t be able to tell me he was scared or lonely.”

What happened next is a testament to the power of inclusiveness. Francis’ classmates didn’t turn away. They welcomed him with open arms into the school’s community. Their unwavering support has helped Francis grow in leaps and bounds.

"He has changed so much in his 3 years there,” Gina said. “He is accepting social situations with ease now. This would never have happened before. He is far more aware and for the first time this past two months, giving hugs. He enjoys being with the other students so much, who play with him and read to him daily. He tries to feed himself and do what they do. It’s great to watch. He is looking at books and interacting with people and toys, which he never did before starting school."

Recently, Francis’ classmates won a contest, and instead of keeping the prize money, they gave it to his teacher to pay for extra resources for him. They also made Francis a sensory mat, a key developmental tool.

“These students and this school has helped us all see the boy behind the silence,” Gina said. “I’ll always be grateful they accepted him and his family with open arms, and they have shown to us that inclusion can – and does – work.”

Our Global Community - 07/03/2018

VIDEO: 1st Annual C3P-Go Gala Raises Hundreds of Thousands for Research

Events - 04/19/2018

1st Annual C3P-Go Gala Raises Hundreds of Thousands for Groundbreaking Research

The giving spirit was on full display on a night that surpassed even our most optimistic hopes and dreams. We are so incredibly excited and grateful to announce that thanks to our global community, the first annual C3P-Go Gala in Houston raised hundreds of thousands of dollars to help fund our research into finding a cure for Jordan’s Syndrome.

In all, $365,000 was raised, which will directly support the groundbreaking research that may bring answers for our children and potentially millions more. The event was organized by the Huber family, or Team Huber, as they are affectionately known. Their two-year-old son Hutton was diagnosed with Jordan’s Syndrome.

Attendees bid on everything from timeless sports memorabilia to sparkling jewelry in a silent auction. There were games and raffles aplenty. Inside the ballroom, we kicked off the evening’s festivities with a warm welcome from our lovely MC, KHOU meteorologist Chita Craft.

A live auction was held, where partygoers anted up for five-star getaways and more. One of our researchers, Dr. Ghayda Mirzaa, explained the potential behind the project, examining how Jordan’s Syndrome (a newly-discovered mutation in the gene PPP2R5D) is linked to autism, intellectual disability, Alzheimer’s and cancer.

In an inspiring moment for all, Jordan’s Guardian Angels co-founder Joe Lang was joined on stage by several of our families as he spoke to the audience about the need to help. What happened next was nothing short of stunning.

Our live auctioneer asked those in attendance to consider making a charitable donation – simply in the spirit of generosity. The response was as immediate as it was overwhelming, as dozens raised their paddles to contribute to our mission. By the time it was all said and done, we’d far exceeded our goal for the evening.

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“As I sat by the stage admiring all the clapping hands and the loving eyes fixated on our children, it became very clear that there is nowhere else I would rather be,” said parent Carole Backhos. “If Jordan’s Syndrome wasn’t part of our lives, what could I possibly be doing at that exact moment that would have had any sense of achievement and belonging? [I am] thankful every day for the meaningful life this journey has put us on.”

Internationally-known performance painter Michael Israel thrilled the crowd, turning blank canvases into beautiful art in a matter of minutes – a spectacular way to cap a night that we won’t soon forget.

It was an evening filled with fun, laughter and hope. Click here to view a full gallery of the evening's festivities!

Jordan’s Guardian Angels would like to thank the following families and businesses whose invaluable contributions made for a truly unforgettable night. We can’t begin to express our gratitude – and we are already looking forward to next year!

Sponsors:
The Fogg Family, Altivia, Wyatt Ranch Foundation, USI, Englobal, Holloman Corp, MOGAS Industries, CVA Tanks, Kendra Scott

Live Auction Donors:
The Brashiers, Andersons, Cleers and Foggs

Games, Raffle & Silent Auction Donors:
ARKANSAS: Bourbon & Boots

CALIFORNIA: Mike West & Paul Hermann

COLORADO: Crested Butte Mountain Resort, Mario’s Pizza & Pasta

FLORIDA: Amy Fogg Art

TEXAS: Athleta, Ciro’s Italian Grill, Chick-Fil-A, Consuelo Sierra, Doris Metro, Elaine Turner, Escape Room, Guadalajara Hacienda, Gunner Hook, Hallmark Memorial, Hotel Zaza, Houston Zoo, Kendra Scott, Lacy Cunningham (Rodan & Fields), Lash Plus, Ledge Loungers, Marilyn Biles Collection, Mr. Poppa Gourmet Popcorn Texas, Nice Winery, Paisley House, Paris Texas Apparel, Steadman West, The Southern Door, Total Wine, UrbanCHEF, Well Done Cooking Class

LOUISIANA: Andy’s Jewelry, Dave Hardy, Garrett Gauthier, Katie LeBlanc, Ken’s Coffee, Lauren McElligott, Maven, Nichols, Obagi (Alexis Joubert / Elizabeth McElligott), Perry Ste. Marie, Robert & Penny Leblanc, LeBLANC+SMITH, Snap On Tools, Swags & Tassels

KENTUCKY: Kentucky for Kentucky Socks, Mouth’s Candys

MAINE: Loohoo Wool Dyer Balls

OREGON: Bend Armoire Jewelry, Bend Nut Roasters, North Broken Top Candles, Cascade Lavender, Conscious Ink Manifestation Tattoos, Dani Naturals, Deb’s DeWine Design, Desperado, DIY Cave, Farmhouse Soy Candles, Hopped Up Jewelry, Hopscotch Kids, Justy’s Jellys, LeLeO Leather Ties, LoilJ Essential Oils, Meadowland Syrups, One Love by Panambi, Oregon Bath & Body, Paper Jazz, Pendleton, Savory Spice Shop, Silipint, Silverado, Skin First by Terese, Spiritopia, Spoke Bracelets, Steena’s Suds, Sweet Mama’s Soap Co., Van Heusen, Vintner’s Kitchen, Wild Roots Vodka

Events - 04/17/2018

Image Gallery: 2018 C3P-Go Gala

Events - 04/16/2018

Rare Disease Day: Children Around the World With Rare Genetic Mutation Share their Journeys on Facebook Live

Incelebration of Rare Disease Day, families from around the world with children diagnosed with a rare genetic mutation potentially linked to autism and Alzheimer's disease, more commonly known as Jordan's Syndrome, connected on Facebook Live to spread their message and stories.

"As a lot of our families have experienced, at the time that we got the first diagnosis, the lab that had done the exome sequencing really said, 'We think you might be the first child in the world,'" said Joe Lang, founder of Jordan's Guardian Angels. "Now, through divine intervention and lots of other things, we are now 54 families strong. As it started to unfold, we started to realize that this is about more than just our children."

The families were joined on Facebook by California State Senator Richard Pan (D-Sacramento), who submitted Senate Resolution 109 today with California State Assemblymember Rob Bonta (D-Oakland) to commemorate Rare Disease Day and highlight Jordan's Syndrome, a mutation in gene PPP2R5D.

"I have submitted a resolution recognizing today as Rare Disease Day, co-authored by a colleague of mine in the State Assembly, Rob Bonta," said Senator Pan. "Our investment in rare disease really has benefits for all of us. Certainly, on one level, it's about recognizing the importance of rare diseases and the families that struggle with them, but it's also recognizing that we all have a stake, together, in children and people with rare diseases, and that the research that is going into this isn't just benefiting those individual families - it's benefiting all of us."

"We need to be sure that families know that there is hope, and that the people of the world are behind you," Senator Pan added.

Click here to watch Senator Pan's livestream of the Rare Disease Day event.

Click here to watch PPP2R5D's livestream of the Rare Disease Day event, hosted by Carole Bakhos of Denver, CO.

Events - 03/05/2018

Swing for Charity Event Raises Hundreds of Thousands

Published

VIDEO: Medical Investigators, JGA Team Reveal Research Progress

One Year Later: Progress After the 1st Family Conference

One Year Later

Closer to a Cure

Our Growing Community

Researchers Come Together

Worldwide Support

State of California Funding (July 2018)

A Funding Foundation

Our Work Isn't Done

First iPSCs Created (April 2018)

First PPP2R5D Mouse (Jan. 2018)

International Attention

Early Research Milestone Reached; What are iPSCs?

Published

Research Update: Team Meets in Denver, Reports Progress

Published

Our Global Community: Students Go Above & Beyond

Published

VIDEO: 1st Annual C3P-Go Gala Raises Hundreds of Thousands for Research

1st Annual C3P-Go Gala Raises Hundreds of Thousands for Groundbreaking Research

Published

Image Gallery: 2018 C3P-Go Gala

Rare Disease Day: Children Around the World With Rare Genetic Mutation Share their Journeys on Facebook Live

Published

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