JGA Quarterly Newsletter: Incredible Research Progress as Global Community Grows

We can’t believe the Summer has arrived! It’s July already, the year is flying by. Thank you for taking a moment to read our Jordan’s Guardian Angels Quarterly Update. Here we hope you will find a window into the incredible progress this group is making on so many levels.
Our community is growing, our research is evolving in leaps and bounds and we have never been closer to a treatment or a cure for Jordan’s Syndrome.
Thank you for being a part of our family and for taking the time to be involved. We are so appreciative of the support you and your families provide.

Research Update

Jordan’s Guardian Angels is in the midst of a very exciting time as we are closer than ever to finding answers. We are now just months away from beginning targeted clinical trials. Families from around the world are continuing to provide their data and answer surveys with Simons Searchlight and our research team to better understand Jordan’s Syndrome and what it does.
Currently, our research team is working diligently on a deep dive into the basic science to understand the genetic mutations on a micro level. Mice clinical trials are also ramping up using 3 different compounds targeting different symptoms of Jordan’s Syndrome. A clinical trials team is hard at work right now designing the trials in preparation for human clinical trials using one particular compound that has shown to improve cognition when administered to mice.
It's more important than ever that we continue our fundraising efforts as we are getting closer and closer to what we have all been waiting for… an answer for our families and to see the impacts this research has on the world.

Our Global Community

We are continuing to grow every single week here at Jordan’s Guardian Angels. We are thrilled that our new families are finding us and now have a new and supportive home. Our community is now more than 380 families strong and growing all the time.
To make the transition into our community run smoothly, we now have a fully staffed Ambassador Program for our families to utilize. These specially trained individuals are all part of our global family here to help new families and current families with navigating JGA. The program is designed to help our families in their language in their region of the world to help make the transition run smoothly. The Ambassadors have created regional Whatsapp groups and Facebook groups and texts threads to provide support for our families.

We are so grateful for the work they do.

JGA "One in a Million" Campaign

This year, we have launched a brand-new fundraising campaign aimed at raising ONE MILLION DOLLARS for our children who truly are one in a million. The goal is simple, to get as many people as humanly possible to donate one dollar today. One dollar, one time and we grow from there. All of the funds go directly to Jordan’s Syndrome Research. Watch this video to learn more!

Here are three easy places to donate today:
Venmo: venmo.com/JordansGuardianAngels
PayPal: https://www.paypal.com/donate/?hosted_button_id=KXPNGTHTDT5TC
JGA Site: https://jordansguardianangels.org/get-involved/
We are #JGAOneInAMillion! 

If you have any questions, please contact Candice Huber: chuber@jordansguadianangels.org.

2024 Family Conference

Summer 2024 is our targeted date for our next Family Conference! We are very excited to have everyone together again and to be able to continue gathering valuable information for our research efforts. More details are to come on specific dates and a location. Stay tuned!


Jordan’s Guardian Angels is expanding its partnership with the Rare Epilepsy Network. Our Director of Outreach and Content Development, Christina Janes is now a member of their Coordinating Committee.
REN welcomes all rare epilepsy organizations and broad epilepsy stakeholders to come together around research efforts to improve lives. This partnership is something we are extremely proud of as REN is one of the foremost global networks in the rare disease community. We look forward to a long and fruitful partnership.

Tech Update

ALL of our social media channels recently underwent a major tech overhaul. Under careful and targeted guidance, we are growing our digital footprint and could use your help in aiding that growth.
Help us to grow our social media. Click the links below to “follow” our journey. One click makes a big difference!

Family Involvement

We are so excited to highlight an incredible Jordan’s Guardian Angels Mom who continues to spread the word about Jordan’s Syndrome every day. Michelle Fruhschien is Mom to Hailey who is living with Jordan’s Syndrome. She’s also an incredible advocate and social media aficionado. Michelle has joined forces with Extra Lucky Moms to spread the word about our community.
Extra Lucky Moms continues to be a great JGA partner, this group helps to remind us daily that we are extra lucky to be the parents of children with special needs. The founders created this group as two moms who want to share the joy that comes with being a disability mom.
They have since published a book Dear Mama: Stories of an extra lucky life, a compilation of letters from moms in the disability community. Michelle was chosen as one of those Moms to share her story. We are so proud of her, of all the good she’s bringing to the world and her continued efforts to shed light on Jordan’s Syndrome and Jordan’s Guardian Angels. Thank you Michelle for all you do!

Thank You!

From this global family pictured above to you, THANK YOU!

As we always say, we couldn’t do this without all of you. Our journey is now your journey, and as we find a treatment or a cure for our children, we could very well unlock some of the world’s greatest medical mysteries… Parkinson’s, Autism, cancer, Alzheimer’s and more that could impact you or someone you love. We are so thankful for all of you, your dedication, donations, support and guidance.

From all of us here at Jordan’s Guardian Angels, THANK YOU!


July 13, 2023


JGA Featured Image iPSCs FAQ

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.

JGA Images
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.


July 30, 2018


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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.