Rare disease meeting at California Capitol stresses importance of advocacy, funding, and new research

Dr. Martin Cadeiras (far left), who specializes in cardiovascular medicine at UC Davis, discusses the rare disease amyloidosis. Next to Dr. Cadeiras is Len Strickland, a patient advocates who shares his perspective on living with the disease.

“By changing policy, we can change lives”

A powerful opening statement by Angela Ramirez Holmes, Founder & President of the California Action Link for Rare Diseases (CAL RARE).

Tuesday of last week, patient advocates, patient advocacy organizations, and members of the public filled a room at the California Capitol for an informational hearing on research related to rare diseases. One of the organizations present was CAL RARE, a non-profit organization that is dedicated to improving the lives of California patients with rare diseases. Angela’s opening statement reflects CAL RARE’s core mission of bringing awareness of rare diseases to the general public and decision makers in order to improve access to physicians, treatments, and social services.

Dr. Martin Cadeiras

One of the first presenters was Dr. Martin Cadeiras from the Department of Cardiovascular Medicine at UC Davis. His presentation focused on a rare disease named amyloidosis, which occurs when a protein called amyloid builds up in the body’s organs and tissues. This can lead to problems in the heart, skin, kidneys, liver, and digestive tract. There are several different types of amyloidosis, one of which is hereditary and another form that can occur after chronic infection. Dr. Cadeiras spoke in detail about the scientific complexities behind amyloidosis and shared images of patients affected with the disease as well as the complications associated with their condition.

Len Strickland

To elaborate more on the patient perspective of this disease, patient advocate Len Strickland shared his journey living with amyloidosis. In addition to living with the disease, Len also has the sickle cell trait, meaning he has one copy of the sickle cell disease gene but one normal copy.

In his early life, Len was a typical young adult with no health problems. Unfortunately for him that changed in 2006, when he started having problems with shortness of breath and heart palpitations almost overnight. He visited many doctors, all of which were perplexed by his condition and were unable to diagnose him.

“My normal life was gone, and I was very concerned.” said Strickland.

One year later, after multiple tests and specialists, he was finally diagnosed with the hereditary version of amyloidosis. As a result of his condition, he was in dire need of a heart transplant. On March 4, 2008 he was placed on the transplant list. Because he was relatively lower on the priority list, he was told to keep hope to a minimum. Fortunately, on June 10, 2008 a matching donor heart was found and by the next day, Len had successfully received the heart transplant.

Len wrote a thank you letter to the mother of the deceased donor and regularly keeps in touch with her. She hopes to one day meet Len in person so that she can hug Len and hear her son’s heartbeat.

Although the amyloid deposits have spread to Len’s hand and feet, he is still able to live his life.

Len ended his speech by telling the crowd,

“Make the best of the time you have, if I can do it, so can you.”

Dr. Lauge Farnaes

The challenges Len faced with getting a proper diagnosis brought up the need for technology that can better screen rare diseases. The next presenter, Dr. Lauge Farnaes of Rady Children’s Institute for Genomic Medicine, discussed a project that focused on just that. Under a two million dollar Medi-Cal program titled Project Baby Bear, Dr. Farnaes and his team have used genome sequencing as a diagnostic test for critically ill newborns. The ultimate goal is to get this screening as a Medi-Cal covered benefit.

Comprehensive early testing enables physicians to make early decisions about and minimize the damage accumulated before diagnosis. “We have a chance to go in early on and make a difference in the life of patients.” said Farnaes.

Dr. Farnaes told stories of some of the children enrolled in the screening program. One was a young girl that had problems related to the heart. She was enrolled February 6th and diagnosed two days later with Timothy Syndrome, making her one of the youngest patients ever diagnosed. She was implanted with a defibrillator to help with her heart problems. Dr. Farnaes had stated that without the screening, she would have likely just been prescribed beta blockers, which would only have worsened her condition.

Another child enrolled in the program had difficulty breathing as a result of bone fractures. Because of the bone fractures, it was thought that the child had undergone abuse at the hands of the parents. However, thanks to the screening technology, it was found to be the result of a genetic condition. Dr. Farnaes talked about how this technology vindicated the parents, who were already going through the difficult process of having a sick child without throwing other problems into the mix.

To date, 116 children have been diagnosed with genetic conditions early on using this technology and the number is expected to eventually approach 150.

Last, but not least, Assemblymember Mike Gipson shared an update on the work that the rare disease caucus has made with relation to sickle cell disease. He mentioned how the legislative black caucus had successfully advocated for allocating $15 million for sickle cell disease. This money will be used to open seven new sickle cell centers across California.

The meeting in the California Capitol highlighted the impact that patient stories have on policy, as well as the ongoing need of funding and new technologies to address the disparities in rare disease.

From bench to bedside: a Q&A with stem cell expert Jan Nolta

At CIRM we are privileged to work with many remarkable people who combine brilliance, compassion and commitment to their search for new therapies to help people in need. One of those who certainly fits that description is UC Davis’ Jan Nolta.

This week the UC Davis Newsroom posted a great interview with Jan. Rather than try and summarize what she says I thought it would be better to let her talk for herself.

Jan Nolta
Jan Nolta

Talking research, unscrupulous clinics, and sustaining the momentum

(SACRAMENTO) —

In 2007, Jan Nolta returned to Northern California from St. Louis to lead what was at the time UC Davis’ brand-new stem cell program. As director of the UC Davis Stem Cell Program and the Institute for Regenerative Cures, she has overseen the opening of the institute, more than $140 million in research grants, and dozens upon dozens of research studies. She recently sat down to answer some questions about regenerative medicine and all the work taking place at UC Davis Health.

Q: Turning stem cells into cures has been your mission and mantra since you founded the program. Can you give us some examples of the most promising research?

I am so excited about our research. We have about 20 different disease-focused teams. That includes physicians, nurses, health care staff, researchers and faculty members, all working to go from the laboratory bench to patient’s bedside with therapies.

Perhaps the most promising and exciting research right now comes from combining blood-forming

stem cells with gene therapy. We’re working in about eight areas right now, and the first cure, something that we definitely can call a stem cell “cure,” is coming from this combined approach.

Soon, doctors will be able to prescribe this type of stem cell therapy. Patients will use their own bone marrow or umbilical cord stem cells. Teams such as ours, working in good manufacturing practice facilities, will make vectors, essentially “biological delivery vehicles,” carrying a good copy of the broken gene. They will be reinserted into a patient’s cells and then infused back into the patient, much like a bone marrow transplant.

“Perhaps the most promising and exciting research right now comes from combining blood-forming stem cells with gene therapy.”

Along with treating the famous bubble baby disease, where I had started my career, this approach looks very promising for sickle cell anemia. We’re hoping to use it to treat several different inherited metabolic diseases. These are conditions characterized by an abnormal build-up of toxic materials in the body’s cells. They interfere with organ and brain function. It’s caused by just a single enzyme. Using the combined stem cell gene therapy, we can effectively put a good copy of the gene for that enzyme back into a patient’s bone marrow stem cells. Then we do a bone marrow transplantation and bring back a person’s normal functioning cells.

The beauty of this therapy is that it can work for the lifetime of a patient. All of the blood cells circulating in a person’s system would be repaired. It’s the number one stem cell cure happening right now. Plus, it’s a therapy that won’t be rejected. These are a patient’s own stem cells. It is just one type of stem cell, and the first that’s being commercialized to change cells throughout the body.

Q: Let’s step back for a moment. In 2004, voters approved Proposition 71. It has funded a majority of the stem cell research here at UC Davis and throughout California. What’s been the impact of that ballot measure and how is it benefiting patients?

We have learned so much about different types of stem cells, and which stem cell will be most appropriate to treat each type of disease. That’s huge. We had to first do that before being able to start actual stem cell therapies. CIRM [California Institute for Regenerative Medicine] has funded Alpha Stem Cell Clinics. We have one of them here at UC Davis and there are only five in the entire state. These are clinics where the patients can go for high-quality clinical stem cell trials approved by the FDA [U.S. Food and Drug Administration]. They don’t need to go to “unapproved clinics” and spend a lot of money. And they actually shouldn’t.

“By the end of this year, we’ll have 50 clinical trials.”

By the end of this year, we’ll have 50 clinical trials [here at UC Davis Health]. There are that many in the works.

Our Alpha Clinic is right next to the hospital. It’s where we’ll be delivering a lot of the immunotherapies, gene therapies and other treatments. In fact, I might even get to personally deliver stem cells to the operating room for a patient. It will be for a clinical trial involving people who have broken their hip. It’s exciting because it feels full circle, from working in the laboratory to bringing stem cells right to the patient’s bedside.

We have ongoing clinical trials for critical limb ischemia, leukemia and, as I mentioned, sickle cell disease. Our disease teams are conducting stem cell clinical trials targeting sarcoma, cellular carcinoma, and treatments for dysphasia [a swallowing disorder], retinopathy [eye condition], Duchenne muscular dystrophy and HIV. It’s all in the works here at UC Davis Health.

There’s also great potential for therapies to help with renal disease and kidney transplants. The latter is really exciting because it’s like a mini bone marrow transplant. A kidney recipient would also get some blood-forming stem cells from the kidney donor so that they can better accept the organ and not reject it. It’s a type of stem cell therapy that could help address the burden of being on a lifelong regime of immunosuppressant drugs after transplantation.

Q: You and your colleagues get calls from family members and patients all the time. They frequently ask about stem cell “miracle” cures. What should people know about unproven treatments and unregulated stem cell clinics?

That’s a great question.The number one rule is that if you’re asked to pay money for a stem cell treatment, don’t do it. It’s a big red flag.

When it comes to advertised therapies: “The number one rule is that if you’re asked to pay money for a stem cell treatment, don’t do it. It’s a big red flag.”

Unfortunately, there are unscrupulous people out there in “unapproved clinics” who prey on desperate people. What they are delivering are probably not even stem cells. They might inject you with your own fat cells, which contain very few stem cells. Or they might use treatments that are not matched to the patient and will be immediately rejected. That’s dangerous. The FDA is shutting these unregulated clinics down one at a time. But it’s like “whack-a-mole”: shut one down and another one pops right up.

On the other hand, the Alpha Clinic is part of our mission is to help the public get to the right therapy, treatment or clinical trial. The big difference between those who make patients pay huge sums of money for unregulated and unproven treatments and UC Davis is that we’re actually using stem cells. We produce them in rigorously regulated cleanroom facilities. They are certified to contain at least 99% stem cells.

Patients and family members can always call us here. We can refer them to a genuine and approved clinical trial. If you don’t get stem cells at the beginning [of the clinical trial] because you’re part of the placebo group, you can get them later. So it’s not risky. The placebo is just saline. I know people are very, very desperate. But there are no miracle cures…yet. Clinical trials, approved by the FDA, are the only way we’re going to develop effective treatments and cures.

Q: Scientific breakthroughs take a lot of patience and time. How do you and your colleagues measure progress and stay motivated?   

Motivation?  “It’s all for the patients.”

It’s all for the patients. There are not good therapies yet for many disorders. But we’re developing them. Every day brings a triumph. Measuring progress means treating a patient in a clinical trial, or developing something in the laboratory, or getting FDA approval. The big one will be getting biological license approval from the FDA, which means a doctor can prescribe a stem cell or gene therapy treatment. Then it can be covered by a patient’s health insurance.

I’m a cancer survivor myself, and I’m also a heart patient. Our amazing team here at UC Davis has kept me alive and in great health. So I understand it from both sides. I understand the desperation of “Where do I go?” and “What do I do right now?” questions. I also understand the science side of things. Progress can feel very, very slow. But everything we do here at the Institute for Regenerative Cures is done with patients in mind, and safety.

We know that each day is so important when you’re watching a loved one suffer. We attend patient events and are part of things like Facebook groups, where people really pour their hearts out. We say to ourselves, “Okay, we must work harder and faster.” That’s our motivation: It’s all the patients and families that we’re going to help who keep us working hard.

Breaking bad news to stem cell researchers

It’s never easy to tell someone that they are too late, that they missed the deadline. It’s particularly hard when you know that the person you are telling that to has spent years working on a project and now needs money to take it to the next level. But in science, as in life, it’s always better to tell people what they need to know rather than what they would like to hear.

And so, we have posted a notice on our website for researchers thinking about applying for funding that, except in a very few cases, they are too late, that there is no money available for new projects, whether it’s Discovery, Translational or Clinical.

Here’s that notice:

CIRM anticipates that the budget allocation of funds for new awards under the CIRM clinical program (CLIN1, CLIN2 and CLIN3) may be depleted within the next two to three months. CIRM will accept applications for the monthly deadline on June 28, 2019 but will suspend application submissions after that date until further notice. All applicants should note that the review of submitted applications may be halted at any point in the process if funds are depleted prior to completion of the 3-month review cycle. CIRM will notify applicants of such an occurrence. Therefore, submission and acceptance of an application to CIRM does not guarantee the availability of funds or completion of a review cycle.

The submission of applications for the CIRM/NHLBI Cure Sickle Cell Initiative (CLIN1 SCD, CLIN2 SCD) are unaffected and application submissions for this program will remain open.

We do, of course, have enough money set aside to continue funding all the projects our Board has already approved, but we don’t have money for new projects (except for some sickle cell disease projects).

In truth our funding has lasted a lot longer than anyone anticipated. When Proposition 71 was approved the plan was to give CIRM $300 million a year for ten years. That was back in 2004. So what happened?

Well, in the early years stem cell science was still very much in its infancy with most of the work being done at a basic or Discovery level. Those typically don’t require very large sums so we were able to fund many projects without hitting our $300m target. As the field progressed, however, more and more projects were at the clinical trial stage and those need multiple millions of dollars to be completed. So, the money went out faster.

To date we have funded 55 clinical trials and our early support has helped more than a dozen other projects get into clinical trials. This includes everything from cancer and stroke, to vision loss and diabetes. It’s a good start, but we feel there is so much more to do.

Followers of news about CIRM know there is talk about a possible ballot initiative next year that would provide another $5.5 billion in funding for us to help complete the mission we have started.

Over the years we have built a pipeline of promising projects and without continued support many of those projects face a difficult future. Funding at the federal level is under threat and without CIRM there will be a limited number of funding alternatives for them to turn to.

Telling researchers we don’t have any money to support their work is hard. Telling patients we don’t have any money to support work that could lead to new treatments for them, that’s hardest of all.

CIRM & NHLBI Create Landmark Agreement on Curing Sickle Cell Disease

CIRM Board approves first program eligible for co-funding under the agreement

Adrienne Shapiro, co-founder of Axis Advocacy, with her daughter Marissa Cors, who has Sickle Cell Disease.

Sickle Cell disease (SCD) is a painful, life-threatening blood disorder that affects around 100,000 people, mostly African Americans, in the US. Even with optimal medical care, SCD shortens expected lifespan by decades.  It is caused by a single genetic mutation that results in the production of “sickle” shaped red blood cells.  Under a variety of environmental conditions, stress or viral illness, these abnormal red blood cells cause severe anemia and blockage of blood vessels leading to painful crisis episodes, recurrent hospitalization, multi-organ damage and mini-strokes.    

On April 29th the governing Board of the California Institute for Regenerative Medicine (CIRM) approved $4.49 million to Dr. Mark Walters at UCSF Benioff Children’s Hospital in Oakland to pursue a gene therapy cure for this devastating disease. The gene therapy approach uses CRISPR-Cas9 technology to correct the genetic mutation that leads to sickle cell disease. This program will be eligible for co-funding under the landmark agreement between CIRM and the National Heart, Lung and Blood Institute (NHLBI) of the NIH.

This CIRM-NHLBI agreement was finalized this month to co-fund cell and gene therapy programs under the NIH “Cure Sickle Cell” initiative.  The goal is to markedly accelerate the development of cell and gene therapies for SCD. It will deploy CIRM’s resources and expertise that has led to a portfolio of over 50 clinical trials in stem cell and regenerative medicine.     

“CIRM currently has 23 clinical stage programs in cell and gene therapy.  Given the advancements in these approaches for a variety of unmet medical needs, we are excited about the prospect of leveraging this to NIH-NHLBI’s Cure Sickle Cell Initiative,” says Maria T. Millan, M.D., the President and CEO of CIRM. “We are pleased the NHLBI sees value in CIRM’s acceleration and funding program and look forward to the partnership to accelerate cures for sickle cell disease.”

“There is a real need for a new approach to treating SCD and making life easier for people with SCD and their families,” says Adrienne Shapiro, the mother of a daughter with SCD and the co-founder of Axis Advocacy, a sickle cell advocacy and education organization. “Finding a cure for Sickle Cell would mean that people like my daughter would no longer have to live their life in short spurts, constantly having their hopes and dreams derailed by ER visits and hospital stays.  It would mean they get a chance to live a long life, a healthy life, a normal life.”

CIRM is currently funding two other clinical trials for SCD using different approaches.  One of these trials is being conducted at City of Hope and the other trial is being conducted at UCLA.

Mending Stem Cells: The Past, Present & Future of Regenerative Medicine

UCSF’s Mission Bay Campus

For years we have talked about the “promise” and the “potential” of stem cells to cure patients. But more and more we are seeing firsthand how stem cells can change a patient’s life, even saving it in some cases. That’s the theme of the 4th Annual CIRM Alpha Stem Cell Clinics Network Symposium.

It’s not your usual symposium because this brings together all the key players in the field – the scientists who do the research, the nurses and doctors who deliver the therapies, and the patients who get or need those therapies. And, of course, we’ll be there; because without CIRM’s funding to support that research and therapies none of this happens.

We are going to look at some of the exciting progress being made, and what is on the horizon. But along the way we’ll also tackle many of the questions that people pose to us every day. Questions such as:

  • How can you distinguish between a good clinical trial offering legitimate treatments vs a stem cell clinic offering sham treatments?
  • What about the Right to Try, can’t I just demand I get access to stem cell therapies?
  • How do I sign up for a clinical trial, and how much will it cost me?
  • What is the experience of patients that have participated in a stem cell clinical trial?

World class researchers will also talk about the real possibility of curing diseases like sickle cell disease on a national scale, which affect around 100,000 Americans, mostly African Americans and Hispanics. They’ll discuss the use of gene editing to battle hereditary diseases like Huntington’s. And they’ll highlight how they can engineer a patient’s own immune system cells to battle deadly cancers.

So, join us for what promises to be a fascinating day. It’s the cutting edge of science. And it’s all FREE.

Here’s where you can go to find out more information and to sign up for the event.

CRISPR-Cas9 101: an overview and the role it plays in developing therapies

Illustration courtesy of TED website

There has been a lot of conversation surrounding CRISPR-Cas9 in these recent months as well as many sensational news stories. Some of these stories highlight the promise this technology holds, while others emphasize a word of caution. But what exactly does this technology do and how does it work? Here is a breakdown that will help you better understand.

To start off, CRISPR is a naturally occurring process found in bacteria used as an immune system to defend against viruses. CRISPR simply put, are strands of DNA segments that contain repeating patterns. There are “scissor like” CRISPR proteins that have the ability to cut DNA segments. When a copy of a virus enters the bacteria, these “scissor like” proteins cut a segment of DNA from the virus and insert it into CRISPR. A copy of the viral DNA is made and another “attack” protein known as Cas9 attaches to it. By binding to the viral copy, Cas9 is able to sense that virus. When the same virus tries to enter the bacteria, Cas9 is able to seek and destroy it.

You can view a more detailed video explaining this concept below.

Many scientists analyzed this process in detail and it was eventually discovered that this CRISPR-Cas9 complex could be used to removed unwanted genes and insert a corrected copy, revolutionizing the way that we view the approach towards treating a wide variety of genetic diseases.

In fact, researchers at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and the University of Massachusetts Medical School have developed a strategy using this complex to treat two inherited, lethal blood disorders, sickle cell disease (SCD) and beta thalassemia. Both of these diseases involve a mutation that effects production of red blood cells, which are produced by blood stem cells. In beta-thalassemia, the mutation prevent red blood cells from being able to carry enough oxygen, leading to anemia. In SCD, the mutations cause red blood cells to take on a “sickle” shape which can block blood vessels.

By using CRISPR-Cas9 to insert a corrected copy of the gene into a patient’s own blood stem cells, this team demonstrated that functional red blood cells can then be produced. These results pay the way for other blood disorders as well.

In a press release , Dr. Daniel Bauer, an attending physician with Dana-Farber and a senior author on both of these studies stated that,

“Combining gene editing with an autologous stem-cell transplant could be a therapy for sickle-cell disease, beta-thalassemia and other blood disorders.”

In a separate study, scientists at University of Massachusetts Medical School have developed a strategy that could be used to treat genetic disorders associated with unintentional repeats or copies of small DNA segments. These problematic small segments of DNA are called microduplications and cause as many as 143 different diseases, including limb-girdle muscular dystrophy, Hermansky-Pudlak syndrome, and Tay-Sachs.

Because these are issues caused by repeats or copies of small DNA segments, the CRISPR-Cas9 complex can be used to remove microduplications without having to insert any additional genetic material.

Dr. Scot A. Wolfe, a co-investigator of this study, stated that,

“It’s like hitting the reset button. We don’t have to add any corrective genetic material, instead the cell stitches the DNA back together minus the duplication. It’s a shortcut for gene correction with potential therapeutic appeal.”

Although there has been a lot progress made with this technology, there are still concerns that need to be addressed. An article in Science mentions how two studies have shown that CRISPR can still make unintended changes to DNA, which can be potentially dangerous. In the article, Dr. Jin-Soo Kim, a CRISPR researcher at Seoul National University is quoted as saying,

“It is now important to determine which component is responsible for the collateral mutations and how to reduce or avoid them.”

Overall, CRISPR-Cas9 has revolutionized the approach of precision medicine. A wide variety of diseases are caused by small, unexpected segments of DNA. By applying this approach found in bacteria to humans, we have uncovered a way to correct these segments at the microscopic level. However, there is still much that needs to be learned and perfected before it can be utilized in patients.

Facebook Live – Ask the Stem Cell Team about Patient Advocacy

How often do you get to ask an expert a question about something that matters deeply to you and get an answer right away? Not very often I’m guessing. That’s why CIRM’s Facebook Live “Ask the Stem Cell Team About Patient Advocacy” gives you a chance to do just that this Thursday, March 14th from noon till 1pm PST.

We have three amazing individuals who will share their experiences, their expertise and advice as Patient Advocates, and answer your questions about how to be an effective advocate for your cause.

The three are:

Gigi McMillan became a Patient Advocate when her 5-year-old son was diagnosed with a brain tumor. That led her to helping develop support systems for families going through the same ordeal, to help researchers develop appropriate consent processes and to campaign for the rights of children and their families in research.

Adrienne Shapiro comes from a family with a long history of Sickle Cell Disease (SCD) and has fought to help people with SCD have access to compassionate care. She is the co-founder of Axis Advocacy, an organization dedicated to raising awareness about SCD and support for those with it. In addition she is now on the FDA’s Patient Engagement Collaborative, a new group helping the FDA ensure the voice of the patient is heard at the highest levels.

David Higgins is a CIRM Board member and a Patient Advocate for Parkinson’s Disease. David has a family history of the disease and in 2011 was diagnosed with Parkinson’s. As a scientist and advocate he has championed research into the disease and worked to raise greater awareness about the needs of people with Parkinson’s.

Also, make sure to “like” our FaceBook page before the event to receive a notification when we’ve gone live for this and future events. If you miss the broadcast, not to worry. We’ll be posting it on our Facebook video page, our website, and YouTube channel shortly afterwards.

We want to answer your most pressing questions, so please email them directly to us beforehand at info@cirm.ca.gov.

And, of course, feel free to share this information with anyone you think might be interested.

Rare Disease Day – fighting for awareness and hope

It’s hard thinking of something as rare when one in 20 people are at risk of experiencing it in their lifetime. But that’s the situation with rare diseases. There are more than 7,000 of them and each affects under 200,000 people. In some cases they may only affect a few hundred people. But for each person that disease, though rare, poses a real threat. And that’s why Rare Disease Day was created.

Rare Disease Day is held on the last day of February each year.  The goal is to raise awareness among the general public about the huge impact these diseases have on people’s lives. That impact is not just on the person with the disease but on the whole family who are often struggling just to get a diagnosis.

Every year groups around the world, from patients and patient advocacy organizations to researchers and policymakers, stage events to mark the day. This year there are more than 460 events being held in 96 countries, everywhere from Albania and Andora to Tunisia and Uruguay.

Here in the US many groups organize events at State Capitols to educate elected officials and policy makers about the particular needs of these communities and the promise that scientific research holds to combat these conditions. Others have auctions to raise funds for research or public debates to raise awareness.

Each event is unique in its own way because each represents many different diseases, many different needs, and many different stories. The goal of these events is to put a human face on each condition, to give it visibility, so that it is no longer something most people have never heard of, instead it becomes something that affects someone you may know or who reminds you of someone you know.

Here’s a video from Spain that does just that.

You can find a complete list of events being held around the world to mark Rare Disease Day.

At CIRM we feel a special link to this day. That’s because many of the diseases we fund research into are rare diseases such as severe combined immunodeficiency (SCID), and ALS or Lou Gehrig’s disease, and Sickle Cell Disease.

Evie Vaccaro, cured of SCID

These diseases affect relatively small numbers of patients so they often struggle to get funding for research. Because we do not have to worry about making a profit on any therapy we help develop we can focus our efforts on supporting those with unmet medical needs. And it’s paying off. Our support has already helped develop a therapy for SCID that has cured 40 children. We have two clinical trials underway for ALS or Lou Gehrig’s disease. We also have two clinical trials for Sickle Cell Disease and have reached a milestone agreement with the National Heart, Lung and Blood Institute (NHLBI) on a partnership to help develop a cure for this crippling and life-threatening disorder.

The hope is that events like Rare Disease Day let people know that even though they have a condition that affects very few, that they are not alone, but that they are part of a wider, global community, a community committed to working to find treatments and cures for all of them.

Antibody effective in cure for rare blood disorders

3D illustration of an antibody binding to a designated target.
Illustration created by Audra Geras.

A variety of diseases can be traced to a simple root cause: problems in the bone marrow. The bone marrow contains specialized stem cells known as hematopoietic stem cells (HSCs) that give rise to different types of blood cells. As mentioned in a previous blog about Sickle Cell Disease (SCD), one problem that can occur is the production of “sickle like” red blood cells. In blood cancers like leukemia, there is an uncontrollable production of abnormal white blood cells. Another condition, known as myelodysplastic syndromes (MDS), are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.

For diseases that originate in the bone marrow, one treatment involves introducing healthy HSCs from a donor or gene therapy. However, before this type of treatment can take place, all of the problematic HSCs must be eliminated from the patient’s body. This process, known as pre-treatment, involves a combination of chemotherapy and radiation, which can be extremely toxic and life threatening. There are some patients whose condition has progressed to the point where their bodies are not strong enough to withstand pre-treatment. Additionally, there are long-term side effects that chemotherapy and radiation can have on infant children that are discussed in a previous blog about pediatric brain cancer.

Could there be a targeted, non-toxic approach to eliminating unwanted HSCs that can be used in combination with stem cell therapies? Researchers at Stanford say yes and have very promising results to back up their claim.

Dr. Judith Shizuru and her team at Stanford University have developed an antibody that can eliminate problematic blood forming stem cells safely and efficiently. The antibody is able to identify a protein on HSCs and bind to it. Once it is bound, the protein is unable to function, effectively removing the problematic blood forming stem cells.

Dr. Shizuru is the senior author of a study published online on February 11th, 2019 in Blood that was conducted in mice and focused on MDS. The results were very promising, demonstrating that the antibody successfully depleted human MDS cells and aided transplantation of normal human HSCs in the MDS mouse model.

This proof of concept holds promise for MDS as well as other disease conditions. In a public release from Stanford Medicine, Dr. Shizuru is quoted as saying, “A treatment that specifically targets only blood-forming stem cells would allow us to potentially cure people with diseases as varied as sickle cell disease, thalassemia, autoimmune disorders and other blood disorders…We are very hopeful that this body of research is going to have a positive impact on patients by allowing better depletion of diseased cells and engraftment of healthy cells.”

The research mentioned was partially funded by us at CIRM. Additionally, we recently awarded a $3.7 million dollar grant to use the same antibody in a human clinical trial for the so-called “bubble baby disease”, which is also known as severe combined immunodeficiency (SCID). You can read more about that award on a previous blog post linked here.

Tips on how to be a great Patient Advocate from three of the best Advocates around

No one sets out to be a Patient Advocate. It’s something that you become because of something that happens to you. Usually it’s because you, or  a loved one or a friend, becomes ill and you want to help find a treatment. Whatever the reason, it is the start of a journey that often throws you into a world that you know nothing about: a world of research studies and scientific terminology, of talking to and trying to understand medical professionals, and of watching someone you love struggle.

It’s a tough, demanding, sometimes heart-breaking role. But it’s also one of the most important roles you can ever take on. Patient Advocates not only care for people afflicted with a particular disease or disorder, they help them navigate a new and scary world, they help raise money for research, and push researchers to work harder to find new treatments, maybe even cures. And they remind all of us that in the midst of pain and suffering the human touch, a simple kindness is the most important gift of all.

But what makes a great Patient Advocate, what skills do you need and how can you get them? At CIRM we are blessed to have some of the most amazing Patient Advocates you will ever meet. So we asked three of them to join us for a special Facebook Live “Ask the Stem Cell Team” event to share their knowledge, experience and expertise with you.

The Facebook Live “Ask the Stem Cell Team About Patient Advocacy” event will be on Thursday, March 14th from noon till 1pm PST.

The three experts are:

Gigi McMillan

Gigi McMillan became a Patient Advocate when her 5-year-old son was diagnosed with a brain tumor. That has led her to helping develop support systems for families going through the same ordeal, to help researchers develop appropriate consent processes and to campaign for the rights of children and their families in research.

Adrienne Shapiro

Adrienne Shapiro comes from a family with a long history of Sickle Cell Disease (SCD) and has fought to help people with SCD have access to compassionate care. She is the co-founder of Axis Advocacy, an organization dedicated to raising awareness about SCD and support for those with it. In addition she is now on the FDA’s Patient Engagement Collaborative, a new group helping the FDA ensure the voice of the patient is heard at the highest levels.

David Higgins

David Higgins is a CIRM Board member and a Patient Advocate for Parkinson’s Disease. David has a family history of the disease and in 2011 was diagnosed with Parkinson’s. As a scientist and advocate he has championed research into the disease and strived to raise greater awareness about the needs of people with Parkinson’s.

Please join us for our Facebook Live event on Patient Advocates on Thursday, March 14 from noon till 1pm and feel free to share information about the event with anyone you think would be interested.

Also, make sure to “like” our FaceBook page before the event to receive a notification when we’ve gone live for this and future events. If you miss the broadcast, not to worry. We’ll be posting it on our Facebook video page, our website, and YouTube channel shortly afterwards.

We want to answer your most pressing questions, so please email them directly to us beforehand at info@cirm.ca.gov.