Research Archives – Jordan's Guardian Angels

Research, Research, Research!

Our 2022 Family Conference was incredible not just because we had the opportunity to come together, but because we had to in order to move our research forward. An incredible amount of data was collected.

Sean Calamia, of Dr. Wendy Chung’s team at Columbia University, is one of the many individuals leading the efforts in collecting data for the Jordan’s Guardian Angels Natural History Study. As we wrapped up conference in July, the JGA Team asked Sean to give a rundown on the data collection process and its impact on future clinical trials. Here’s a look:

What is the purpose of collecting clinical data?

1. To better understand and to see the phenotypes, or observable traits, of the genetic disease. If we see a symptom present in greater numbers of people, we have a better idea of what is going on. Conversely, if we see less consistency of a phenotype within the population, then we can readjust.

2. It is required for clinical trials. A few years ago, the FDA made data a necessity for drug development and treatment. Therefore, for us to move forward with gene therapy as well as receive funding and approval for clinical trials that aim to treat a rare disease, we need to collect the data and understand the impact of the genetic misspelling. It could be systematic or molecular and we need to be able to identify what we expect to target and what we expect will change. Since rare diseases have a smaller population of people to collect data from, the FDA even more so wants us to have a good robust cohort for information, which makes it critical for us to do things as soon as possible.

What is the significance of this past Family Conference?

At our July Family Meeting, we got about 50 participants enrolled in the study, which is a great number. Depending on how big of a population is needed for rare diseases, it may be enough to move forward with clinical trials.

What are the immediate next steps after the Family Conference?

We just finished collecting the data and are planning to clean and process it.

What is the timeline for clinical trials?

We first want to make sure we are coming up with multiple avenues of therapy to rescue the rare disease. The scientists and physicians from the conference want to spread out resources across the potential avenues of therapy after the data has been processed.

What is the Natural History data?

It captures what is going on in a patient’s life at this point. For other studies, there is an online Natural History Study which is more of a medical history study that personally accounts for what is going on in the patient’s life. We are developing a new version for approval that we hope to use for Jordan’s Syndrome population within the next six weeks or so.

What are some updates on the Natural History Study?

The data has been collected, which makes up a large part of the work, but will still be continued. Usually, data for the Natural History Study is collected once a year as we do not expect to see significant changes through frequent collections. Since it is a longitudinal study, data will be collected until we reach clinical trials and even past that. With previous findings, we have learned a lot such as that some things are not having the negative impact we hypothesized, which is very good news.

What have been some barriers to data collection?

Funding the trip is a barrier since the data collection occurs at Columbia University and we do not want families to have to financially support the case and fund their trip. There was never a problem in finding participants or getting families motivated as the families have always been unbelievably motivated to contribute.

What is a take-home message for all the families?

While we may not be at the point of clinical trials or have therapies to be tested right now, our current priority is to get all the Natural History data set up for those goals. The best thing you can do right now is to share all the information you have.

Thank you to Sean for all of his insight and to our entire research team for their tireless efforts to find a treatment or a cure for Jordan’s Syndrome.

Research - 09/21/2022

Columbia University Selected as Rare Disease Center of Excellence

Big congratulations are in order for Jordan’s Guardian Angels Principal Investigator Dr. Wendy Chung, and Columbia University Irving Medical Center with New York Presbyterian. The group has been named a Center of Excellence by the National Organization for Rare Disorders (NORD).

Dr. Chung not only leads our research team but also leads the new Center of Excellence, and as a physician-scientist and clinical geneticist she has identified more than 50 rare genetic conditions.

“This is an important time in medicine, when we have the ability to identify more patients with rare diseases, identify what causes the disease, and use precision medicine to find ways to treat them,” Dr. Chung said.

Congratulations to you Dr. Chung and to your organization. We couldn’t be more proud of the work you and our research team do every day working for a treatment or a cure for Jordan’s Syndrome.

To read more about this latest accolade for Dr. Chung, click here.

Research - 11/23/2021

Journey to a Cure: 2020 Midterm Research Update

Journey to a Cure is a comprehensive update on our global research efforts, during the first 18 months of an international research project led by Jordan’s Guardian Angels into the PPP2R5D gene mutation also known as Jordan’s Syndrome.

Research was expanded to include studying two neighboring genes, PPP2R1A and PPP2R5C. It is believed that this family of genes are closely related and studying them as a group is essential to unlocking the mystery of the disease.

The progress in this short time period has been unprecedented as the team moves with a great sense of urgency working to improve the lives of the children and families affected and follow linkages to other diseases. Working collaboratively, the research team has accomplished in this short time, what would normally take 4-6 years.

Click here, or on the image below, to read the full report on our progress!

Research / Research Update - 08/26/2020

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

Conferences / Events / Research - 01/11/2019

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

Research Progress Revealed at NYC Symposium

In a few short months, major progress has already been made in our quest to find a cure for Jordan’s Syndrome!

The international Jordan’s Guardian Angels research team, composed of the best and brightest researchers in their respective fields, converged in New York City in early December. They relayed significant early findings in our study seeking treatments for a recently-discovered variation in the gene PPP2R5D, known as Jordan’s Syndrome.

"We’re just beginning, but what we’re hearing so far is so exciting – and promising."

While much of the information described in the researchers’ presentations to the group was highly technical, it’s clear our team has made initial headway in understanding how the PPP2R5D gene functions, how the variation operates, its impacts, and potentially, how to fix it. We’re just beginning, but what we’re hearing so far is so exciting – and promising. Click here to review the symposium agenda.

There is positive news on another front: Joe Lang, the co-founder of Jordan’s Guardian Angels, reported progress in the fundraising efforts he’s leading. It goes without saying, but we’re so incredibly grateful for the generosity so many are showing to make this study a possibility.

Finally, check out our “Meet the Research Team” page and click on each researcher’s picture to watch new interviews we taped at the NYC symposium. We thought you all might want to hear directly from the researchers about why this study is so promising, and what personally motivates them to discover the cure.

Research - 12/16/2017

WATCH: "Are You Out There?"

Are you out there?

If your loved one received a PPP2R5D diagnosis, we're here to provide support and hope. Please join our worldwide movement to find answers to Jordan's Syndrome. Watch the video below to learn a little more about who we are and how we can help – then call us, text us, or e-mail us!

Research - 12/11/2017

Research, Research, Research!

Published

Columbia University Selected as Rare Disease Center of Excellence

Published

Journey to a Cure: 2020 Midterm Research Update

Published

Closer to a Cure: 2018 Year-in-Review

Our Research

Our Families

Our Community

Published

VIDEO: Medical Investigators, JGA Team Reveal Research Progress

One Year Later: Progress After the 1st Family Conference

One Year Later