Stem Cell Roundup: hESCs turn 20, tracking cancer stem cells, new ALS gene ID’d

Stem Cell Image of the Week

Picture1This week’s stunning stem cell image is brought to you by researchers in the Brivanlou Lab at Rockefeller University. What looks like the center of a sunflower is actual a ball of neural rosettes derived from human embryonic stem cells (ESCs). Neural rosettes are structures that contain neural stem and progenitor cells that can further specialize into mature brain cells like the stringy, blue-colored neurons in this photo.

This photo was part of a Nature News Feature highlighting how 20 years ago, human ESCs sparked a revolution in research that’s led to the development of ESC-based therapies that are now entering the clinic. It’s a great read, especially for those of you who aren’t familiar with the history of ESC research.

Increase in cancer stem cells tracked during one patient’s treatment
Cancer stem cells are nasty little things. They have the ability to evade surgery, chemotherapy and radiation and cause a cancer to return and spread through the body. Now a new study says they are also clever little things, learning how to mutate and evolve to be even better at evading treatment.

Researchers at the Colorado Cancer Center did three biopsies of tumors taken from a patient who underwent three surgeries for salivary gland cancer. They found that the number of cancer stem cells increased with each surgery. For example, in the first surgery the tumor contained 0.2 percent cancer stem cells. By the third surgery the number of cancer stem cells had risen to 4.5 percent.

Even scarier, the tumor in the third surgery had 50 percent more cancer-driving mutations meaning it was better able to resist attempts to kill it.

In a news release, Dr. Daniel Bowles, the lead investigator, said the tumor seemed to learn and become ever more aggressive:

Bowles headshot

Daniel Bowles

“People talk about molecular evolution of cancer and we were able to show it in this patient. With these three samples, we could see across time how the tumor developed resistance to treatment.”


The study is published in the journal Clinical Cancer Research.

New gene associated with ALS identified.
This week, researchers at UMass Medical School and the National Institute on Aging reported the identification of a new gene implicated in the development of amyotrophic lateral sclerosis (ALS). Also known as Lou Gehrig’s disease, ALS is a horrific neurodegenerative disorder that degrades the connection between nerve signals and the muscles. Sufferers are robbed of their ability to move and, ultimately, even to breathe. Life expectancy is just 3 to 5 years after diagnosis.

To identify the gene, called KIF5A, the team carried out the largest genetics effort in ALS research with support from the ALS Association, creators of the Ice Bucket Challenge that raised a $115 million for research. The study compared the genomes between a group of nearly 22,000 people with ALS versus a group of over 80,000 healthy controls. Two independent genetic analyses identified differences in the expression of the KIF5A gene between the two groups.


Cartoon representing the role that KIF5A plays in neurons. (Image: UMass Medical School)

KIF5A is active in neurons where it plays a key role in transporting cell components across the cell’s axon, the long, narrow portion of the cell that allows neurons to send long-range signals to other cells. It carries out this transport by tethering cell components on the axon’s cytoskeleton, a structural protein matrix within the cells. Several mutations in KIF5A were found in the ALS group which corroborates previous studies showing that mutations in other cytoskeleton genes are associated with ALS.

One next step for the researchers is to further examine the KIF5A mutations using patient-derived induced pluripotent stem cells.

The study was published in Neuron and picked up by Eureka Alert!

Cold temps nudge stem cells to boost “good” fat, may point to obesity remedies

Newborn babies may not be able to walk or talk but they can do something that makes adults very jealous: burn extra calories without exercising. This feat is accomplished with the help of brown fat which is abundant in infants (and hibernating animals) but barely detectable in adults. However, a new study in Scientific Reports shows that cold temperatures can nudge mesenchymal stem cells – found in the bone marrow – toward a brown fat cell fate, a finding that may uncover new strategies for combating obesity and other metabolic diseases.


Side by side comparision of brown fat, or adipose, cells and white fat cells.

So, what’s so magical about cells that carry brown fat, the so-called “good” fat? Like the more common “bad’ white fat cells, brown fat cells store energy in the form of fat droplets and can burn that energy to meet the demands of the body’s functions like pumping the heart and moving the limbs. But brown fat can also burn calories independent of the body’s energy needs. It’s like stepping on a car’s clutch and gas pedal at the same time: the body burns the fuel but doesn’t do any usable work, so those calories just dissipate as heat. This source of heat is critical for babies because they are not yet able to regulate their own body temperature and lose heat rapidly.

Scientists have known for quite some time that cold temperatures stimulate the production of brown fat but didn’t know exactly why (a CIRM-funded study we blogged about last week identified a protein that also boosts brown fat production). In the current study, a team at the University of Nottingham in the U.K., examined the effect of cold temperature on the fate of bone marrow-derived mesenchymal stem cells which give rise to both white and brown fat tissue as well as bone, cartilage and muscle. Petri dishes containing the cells were placed in incubators at 89°F (32°C) and stimulated to become fat cells. That may not seem cold, but if your core body temperature went that low (instead of the normal 98.6F) you would be beyond shivering, close to collapsing and in need of an emergency room.

With that temperature drop, the researcher observed a “browning” of the stem cells towards a brown fat cell fate. The brown color, in case you’re interested, is cause by the increased number of mitochondria within the cells. These “power factories” of the cell are the source of the heat generation. This result has promising implications for adults struggling with their body weight.


Virginie Sottile

“The good news from these results is that our cells are not pre-programmed to form bad fat and our stem cells can respond if we apply the right change in lifestyle,” explained Dr Virginie Sottile, one of the team leaders on the project, in a press release.


Ok, I know what you’re thinking: moving to Antarctica to lose weight is not my idea of a doable lifestyle change! That’s a point well taken. But the ultimate goal for the researchers is to use this cell system to more carefully study the cellular events that occur under reduced temperatures. This type of inquiry could help identify drug targets that mimic the effects of colder temperatures:

“The next step in our research is to find the actual switch in the cell that makes it respond to the change of temperature in its environment,” said Dr Sottile. “That way, we may be able to identify drugs or molecules that people could swallow that may artificially activate the same gene and trick the body into producing more of this good fat.”

Stem cell clinics make big claims but offer little evidence they can treat osteoarthritic knees

osteoarthritis knee

If someone says they have a success rate of close to 100 percent in treating a major health problem but offer little evidence to back that up, you might be excused for being more than a tad skeptical. And a new study says you would be right.

The health problem in question is osteoarthritis (OA) of the knee, something that affects almost 10 million Americans. It’s caused by the wearing down of the protective cartilage in the knee. That cartilage acts as a kind of shock absorber, so when it’s gone you have bone rubbing against bone. That’s not just painful but also debilitating, making it hard to lead an active life.

There is a lot of research taking place – including a clinical trial that CIRM is funding – that focuses on using stem cells to create new cartilage, but so far nothing has been approved by the US Food and Drug Administration for wider use. The reason for that is simple. No approach has yet proven it is both safe and effective.

No evidence? No worries

But that doesn’t stop many clinics around the US, and around the world, from claiming they have treatments that work and charging patients a hefty sum to get them.

In a study presented at the Annual Meeting of the American Academy of Orthopaedic Surgeons, researchers contacted 317 clinics in the US that directly market stem cell therapies to consumers. They asked the clinics for information on the cost of the procedure and their success rate.

  • Only 65 clinics responded
  • Lowest price was $1,150
  • Highest price was $12,000,
  • Average price of $5,156.

Only 36 clinics responded with information about success rates.

  • 10 claimed between 90 and 100 percent success
  • 15 claimed 80 to 90 percent success
  • 10 claimed 70 to 80 percent
  • One said just 55 percent.

None offered any evidence based on a clinical trial that supported those claims, and there was no connection between how much they charged and how successful they claimed to be.

In a news release about the study – which appears in the Journal of Knee Surgery – George Muschler, one of the lead authors, said that orthopedic surgeons have a duty to give patients the best information available about all treatment options.

“Recent systematic reviews of cellular therapies for the treatment of knee OA (over 400 papers screened) have found poor levels of evidence for the efficacy of these treatments to date. Current evidence does not justify the rapid rate of growth for these therapies.”

Nicolas Piuzzi, the other lead author on the study, says if the evidence doesn’t justify the growth in the number of clinics offering these therapies, it certainly doesn’t justify the prices they charge.

“The claim of “stem cell” therapy carries a high level of expectations for the potential benefits, but research is still many years away from providing clear evidence of effective treatment to patients. As clinicians and researchers, we have ethical, scientific, legal and regulatory concerns. Patients need to be aware of the status of research within the field. If they receive information from anyone offering a treatment claim of an 80 to 100 percent successful recovery, they should be concerned in observance of published peer-reviewed evidence.”

Stem Cell Round: Improving memory, building up “good” fat, nanomedicine

Stem Cell Photo of the Week

roundup03618In honor of brain awareness week, our featured stem cell photo is of the brain! Scientists at the Massachusetts General Hospital and Harvard Stem Cell Institute identified a genetic switch that could potentially improve memory during aging and symptoms of PTSD. Shown in this picture are dentate gyrus cells (DGC) (green) and CA3 interneurons (red) located in the memory-forming area of the brain known as the hippocampus. By reducing the levels of a protein called abLIM3 in the DGCs of older mice, the researchers were able to boost the connections between DGCs and CA3 cells, which resulted in an improvement in the memories of the mice. The team believes that targeting this protein in aging adults could be a potential strategy for improving memory and treating patients with post-traumatic stress disorder (PTSD). You can read more about this study in The Harvard Gazette.

New target for obesity.
Fat cells typically get a bad rap, but there’s actually a type of fat cell that is considered “healthier” than others. Unlike white fat cells that store calories in the form of energy, brown fat cells are packed with mitochondria that burn energy and produce heat. Babies have brown fat, so they can regulate their body temperature to stay warm. Adults also have some brown fat, but as we get older, our stores are slowly depleted.

In the fight against obesity, scientists are looking for ways to increase the amount of brown fat and decrease the amount of white fat in the body. This week, CIRM-funded researchers from the Salk Institute identified a molecule called ERRg that gives brown fat its ability to burn energy. Their findings, published in Cell Reports, offer a new target for obesity and obesity-related diseases like diabetes and fatty liver disease.

The team discovered that brown fat cells produce the ERRg molecule while white fat cells do not. Additionally, mice that couldn’t make the ERRg weren’t able to regulate their body temperature in cold environments. The team concluded in a news release that ERRg is “involved in protection against the cold and underpins brown fat identity.” In future studies, the researchers plan to activate ERRg in white fat cells to see if this will shift their identity to be more similar to brown fat cells.


Mice that lack ERR aren’t able to regulate their body temperature and are much colder (right) than normal mice (left). (Image credit Salk Institute)

Tale of two nanomedicine stories: making gene therapies more efficient with a bit of caution (Todd Dubnicoff).
This week, the worlds of gene therapy, stem cells and nanomedicine converged for not one, but two published reports in the journal American Chemistry Society NANO.

The first paper described the development of so-called nanospears – tiny splinter-like magnetized structures with a diameter 5000 times smaller than a strand of human hair – that could make gene therapy more efficient and less costly. Gene therapy is an exciting treatment strategy because it tackles genetic diseases at their source by repairing or replacing faulty DNA sequences in cells. In fact, several CIRM-funded clinical trials apply this method in stem cells to treat immune disorders, like severe combined immunodeficiency and sickle cell anemia.

This technique requires getting DNA into diseased cells to make the genetic fix. Current methods have low efficiency and can be very damaging to the cells. The UCLA research team behind the study tested the nanospear-delivery of DNA encoding a gene that causes cells to glow green. They showed that 80 percent of treated cells did indeed glow green, a much higher efficiency than standard methods. And probably due to their miniscule size, the nanospears were gentle with 90 percent of the green glowing cells surviving the procedure.

As Steve Jonas, one of the team leads on the project mentions in a press release, this new method could bode well for future recipients of gene therapies:

“The biggest barrier right now to getting either a gene therapy or an immunotherapy to patients is the processing time. New methods to generate these therapies more quickly, effectively and safely are going to accelerate innovation in this research area and bring these therapies to patients sooner, and that’s the goal we all have.”

While the study above describes an innovative nanomedicine technology, the next paper inserts a note of caution about how experiments in this field should be set up and analyzed. A collaborative team from Brigham and Women’s Hospital, Stanford University, UC Berkeley and McGill University wanted to get to the bottom of why the many advances in nanomedicine had not ultimately led to many new clinical trials. They set out looking for elements within experiments that could affect the uptake of nanoparticles into cells, something that would muck up the interpretation of results.


imaging of female human amniotic stem cells incubated with nanoparticles demonstrated a significant increase in uptake compared to male cells. (Green dots: nanoparticles; red: cell staining; blue: nuclei) Credit: Morteza Mahmoudi, Brigham and Women’s Hospital.

In this study, they report that the sex of cells has a surprising, noticeable impact on nanoparticle uptake. Nanoparticles were incubated with human amniotic stem cells derived from either males or females. The team showed that the female cells took up the nanoparticles much more readily than the male cells.  Morteza Mahmoudi, PhD, one of the authors on the paper, explained the implications of these results in a press release:

“These differences could have a critical impact on the administration of nanoparticles. If nanoparticles are carrying a drug to deliver [including gene therapies], different uptake could mean different therapeutic efficacy and other important differences, such as safety, in clinical data.”


Video illustrates potential path to stem cell repair for multiple sclerosis

“Can you imagine slowly losing the ability to live life as you know it? To slowly lose the ability to see, to walk, to grab an object, all the while experiencing pain, fatigue and depression?”

These sobering questions are posed at the beginning of a recent video produced by Youreka Science and Americans for Cures about multiple sclerosis (MS), a debilitating neurodegenerative disorder in which a person’s own immune system attacks cells that are critical for sending nerve signals from the brain and spinal cord to our limbs and the rest of our body.

In recognition of Multiple Sclerosis Awareness Week, today’s blog features this video. Using an easy to understand narrative and engaging hand-drawn illustrations, this whiteboard “explainer” video does a terrific job of describing the biological basis of multiple sclerosis. It also highlights promising research out of UC Irvine showing that stem cell-based therapies may one day help repair the damage caused by multiple sclerosis.

But don’t take my word for it, check out the five-minute video below:

Related Links:

Stem Cell Roundup: No nerve cells for you, old man; stem cells take out the trash; clues to better tattoo removal

Stem cell image of the week: Do they or don’t they? The debate on new nerve cell growth in adult brain rages on.


Young neurons (green) are shown in the human hippocampus at the ages of (from left) birth, 13 years old and 35 years old. Images by Arturo Alvarez-Buylla lab

For the longest time, it was simply a given among scientists that once you reach adulthood, your brain’s neuron-making days were over. Then, over the past several decades, evidence emerged that the adult brain can indeed make new neurons, in a process called neurogenesis. Now the pendulum of understanding may be swinging back based on research reported this week out of Arturo Alvarez-Buylla’s lab at UCSF.

Through the careful examination of 59 human brain samples (from post mortem tissue and those collected during epilepsy surgery), Alvarez-Buylla’s team in collaboration with many other labs around the world, found lots of neurogenesis in neonatal and newborn brains. But after 1 year of age, a steep drop in the number of new neurons was observed. Those numbers continued to plummet through childhood and were barely detectable in samples from teens. New neurons were undetectable in adult brain samples.

This week’s stem cell image shows this dramatic decline of new neurons when comparing brain samples from a newborn, a 13 year-old and a 35 year-old.

It was no surprise that these surprising results, published in Nature, got quite a bit of attention by a wide range of news outlets including the LA Times, CNN, The Scientist and NPR to name just a few.

Limitless life of stem cells requires taking out the trash

It’s minding blowing to me that, given the proper nutrients, an embryonic stem cell in a lab dish can exist indefinitely. The legendary fountain of youth that Ponce de León searched in vain for is actually hidden inside these remarkable cells. So how do they do it? It’s a tantalizing question for researchers because the answers could lead to a better understanding of and eventually novel therapies for age-related diseases.


Cartoon of a proteosome, the cell’s garbage disposal. Image: Wikipedia

A team from the University of Cologne reports this week on a connection between the removal of degraded proteins and the longevity of stem cells. Cells in general use special enzymes to tag wonky proteins for the cellular trash heap, called a proteasome. Without this ability to clean up, unwanted proteins can accumulate and make cells unhealthy, a scenario that is seen in age-related diseases like Alzheimer’s. The research team found that reducing the protein disposal activity in embryonic stem cells disrupted characteristics that are specific to these cells. So, one way stem cells may keep their youthful appearance is by being good about taking out their trash.

The study was published in Scientific Reports and picked up by Science Daily.

Why tattoos stay when your skin cells don’t ( by Kevin McCormack)

We replace our skin cells every two or three weeks. As each layer dies, the stem cells in the skin replace them with a new batch. With that in mind you’d think that a tattoo, which is just ink injected into the skin with a needle, would disappear as each layer of skin is replaced. But obviously it doesn’t. Now some French researchers think they have figured out why.


Thank your macrophages for keeping your tattoo intact. Tattoo by: Sansanana

It’s not just fun science, published in the Journal of Experimental Medicine, it could also mean that that embarrassing tattoo you got saying you would love Fred or Freda forever, can one day be easily removed.

The researchers found that when the tattoo needle inflicts a wound on the skin, specialized cells called macrophages flock to the site and take up the ink. As those macrophages die, instead of the ink disappearing with them, new macrophages come along, gobble up the ink and so the tattoo lives on.

In an interview with Health News Digest, Bernard Malissen, one of the lead investigators, says the discovery, could help erase a decision made in a moment of madness:

“Tattoo removal can be likely improved by combining laser surgery with the transient ablation of the macrophages present in the tattoo area. As a result, the fragmented pigment particles generated using laser pulses will not be immediately recaptured, a condition increasing the probability of having them drained away via the lymphatic vessels.”

It’s World Kidney Day: Highlighting CIRM’s Investments in Treating Kidney Failure

WKD-Logo-HiToday is World Kidney Day. Hundreds of events across the globe are taking place “to raise awareness of the importance of our kidneys to our overall health and to reduce the frequency and impact of kidney disease and its associated health problems worldwide.” (Side note: in recognition that today is also International Women’s Day, World Kidney Day’s theme this year is “Kidney’s & Women: Include, Value, Empower.)

To honor this day, we’re highlighting how CIRM is playing its part in that mission. The infographic below provides big picture summaries of the four CIRM-funded clinical trials that are currently testing stem cell-based therapies for kidney failure, a condition that affects well over 600,000 Americans.

When a person’s kidneys fail, their body can no longer filter out waste products and extra fluid from the blood which leads to life-threatening complications. About 30% of those affected in the U.S. have organ transplants. Due to the limited availability of donor organs, the other 70% need dialysis, a blood filtration therapy, that requires several trips a week to a special clinic.

Both treatment options have serious limitations. Organ recipients have to take drugs that prevent organ rejections for the rest of their lives. Over time, these drugs are toxic and can increase a patient’s risk of infection, heart disease, cancer and diabetes. In the case of dialysis treatment, the current procedure uses a plastic tube called a shunt to connect to a patient’s vein. These shunts are far from ideal and can lead to infection, blood clots and can be rejected by the patient’s immune system. These complications probably play a role in the average life expectancy of 5-10 years for dialysis patients.

Four CIRM-funded clinical trials aim to circumvent these drawbacks. Humacyte has received over $24 million from the Agency to support two clinical trials that are testing an alternative to the plastic shunt used in dialysis treatment. The company has developed a bioengineered vessel that is implanted in the patient’s arm and over time is populated with the patient’s own stem cells which develop into a natural blood vessel. The trials will determine if the bioengineered vessel is superior to the shunt in remaining open for longer periods of time and with lower incidence of interventions due to blood clots and infections.

The other two CIRM-funded trials, one headed by Stanford University and the other by Medeor Therapeutics, aims to eliminate the need for long-life, anti-rejection medicine after kidney transplant. Both trials use a similar strategy: blood stem cells and immune cells from the organ donor are infused into the patient receiving the organ. If all goes as planned, those donor cells will engraft into and mix with the recipient’s immune system, making organ rejection less likely and ending the need for immune-system suppressing drugs.

For more details visit our Clinical Trial Dashboard.


If you’re into stem cell manufacturing, this is the conference for you!

GMP cells

Manufacturing stem cells: Photo courtesy of Pluristem

Fulfilling CIRM’s mission doesn’t just mean accelerating promising stem cell treatments to patients. It also involves accelerating the whole field of regenerative medicine, which involves not just research, but developing candidate treatments, manufacturing cell therapies, and testing these therapies in clinical trials.

Manufacturing and the pre-clinical safety evaluation of cell therapies are topics that don’t always receive a lot of attention, but they are essential and crucial steps in bringing cell therapies to market. Manufacturing cells that meet the strict standards for use in human trials is often a bottleneck where different methods of making pluripotent stem cells (PSCs) are used and standardization is not readily possible.

Abla-8Abla Creasey, Vice President of Therapeutics and Strategic Infrastructure at CIRM, notes:

“The field of stem cell research and regenerative medicine has matured to the point where there are over 900 clinical trials worldwide. It is critical to develop a system of effective regulation of how these stem cell treatments are developed and manufactured so patients can benefit from future treatments.”

To address this challenge, CIRM has teamed up the International Alliance for Biological Standardization to host the 4th Cell Therapy Conference on Manufacturing and Testing of Pluripotent Stem Cells on June 5-6th in Los Angeles, California.


The aim of this conference is twofold. Speakers will discuss how product development programs can be moved forward in a way that will meet regulatory requirements, so treatments can be approved.

The conference will also focus on key unresolved issues that need to be addressed for the manufacturing and safety testing of pluripotent stem cell-based therapies and then make recommendations to inform the future national and international policies. The overall aim is to provide participants with a road map so new treatments can achieve the highest regulatory standards and be made available to patients around the world.

The agenda of the conference will cover four main topics:

  1. Learning from the current pluripotent space and the development of international standards
  2. Bioanalytics and comparability of therapeutic stem cells
  3. Tumorigenicity testing for therapeutic safety
  4. Pluripotent stem cell manufacturing, storage, and shipment Issues

Using this “big tent” approach, speakers will exchange knowledge, experience and expertise to develop consensus recommendations around stem cell manufacturing and testing.  New data in this area will be introduced at the conference for the first time, such as a multi-center study to identify and optimize manufacturing-compatible methods for cell therapy safety.


The conference will bring together leading experts from industry, academia, health services and therapeutic regulatory bodies around the world, including the US Food and Drug Administration, European Medicines Agency, Japan Pharmaceuticals and Medical Devices Agency, and World Health Organization.

CIRM and IABS encourage individuals and organizations actively pursuing the development of stem cell therapies to attend.


robert deansIf you’re interested, but not quite sold on this conference, take the word of these experts:
Robert Deans, Chief Technology Officer at BlueRock Therapeutics:

“I believe standardization will be an increasingly crucial element in securing commercial success for regenerative cell therapies.  This applies to all facets of development, from cell characterization and patent protection through safety testing of final product.  Most important is the adherence of players in this sector to harmonized standards and creation of a scientifically credible market to the capital community.”

martin-pera-profileProfessor Martin Pera of the Jackson Laboratory, who directs the International  Stem Cell Initiative Genetics and Epigenetics Study Group:

“Participants at this meeting will survey and discuss the state of the art in the development of definitive assays for assessing the safety of pluripotent stem cell based therapies, a critical issue for the future of the field.  Anyone active in cell therapy should attend this meeting to contribute to a dialogue that will impact on research directions and ultimately help to define best practice in this sector.”

When and Where

The conference will be held in Los Angeles Airport Marriott on June 5-6th, 2018. Registration is now open on the IABS website and you can take advantage of discounted early bird registration before April 24th.

A shot in the arm for people with bad knees


Almost every day I get an email or phone call from someone asking if we have a stem cell therapy for bad knees. The inquiries are from people who’ve been told they need surgery to replace joints damaged by age and arthritis. They’re not alone. Every year around 600,000 Americans get a knee replacement. That number is expected to rise to three million by 2030.

Up till now my answer to those calls and emails has been ‘I’m sorry, we don’t have anything’. But a new CIRM-funded study from USC stem cell scientist Denis Evseenko says that may not always be the case.


The ability to regenerate joint cartilage cells instead of surgically replacing joints would be a big boon for future patients. (Photo/Nancy Liu, Denis Evseenko Lab, USC Stem Cell)

Evseenko and his team have discovered a molecule they have called Regulator of Cartilage Growth and Differentiation or RCGD 423. This cunning molecule works in two different ways. One is to reduce the inflammation that many people with arthritis have in their joints. The second is to help stimulate the regeneration of the cartilage destroyed by arthritis.

When they tested RCGD 423 in rats with damaged cartilage, the rats cartilage improved. The study is published in the Annals of Rheumatic Diseases.

In an article in USC News, Evseenko, says there is a lot of work to do but that this approach could ultimately help people with osteoarthritis or juvenile arthritis.

“The goal is to make an injectable therapy for an early to moderate level of arthritis. It’s not going to cure arthritis, but it will delay the progression of arthritis to the damaging stages when patients need joint replacements, which account for a million surgeries a year in the U.S.”

Breaking the isolation of rare diseases

Rare disease day

Rare Disease Day in Sacramento, California

How can something that affects 30 million Americans, one in ten people in the US, be called rare? But that’s the case with people who have a rare disease. There are around 7,000 different diseases that are categorized as rare because they affect fewer than 200,000 people. Less than five percent of these diseases have a treatment.

That’s why last Wednesday, in cities across the US, members of the rare disease community gathered to call for more support, more research, and more help for families battling these diseases. Their slogan tells their story, ‘Alone we are rare; Together we are strong.’

At the Rare Disease Day rally in Sacramento, California, I met Kerry Rivas. Kerry’s son Donovan has a life-threatening condition called Shprintzen-Goldberg Syndrome. Talk about rare. There are only 70 documented cases of the syndrome worldwide. Just getting a diagnosis for Donovan took years.

DonovanDonovan suffers from a lot of problems but the most serious affect his heart, lungs and spinal cord. Getting him the care he needs is time consuming and expensive and has forced Kerry and her family to make some big sacrifices. Even so they work hard to try and see that Donovan is able to lead as normal a life as is possible.

While the disease Kerry’s son has is rarer than most, everyone at Rare Disease Day had a similar story, and an equal commitment to doing all they can to be an effective advocate. And their voices are being heard.

To honor the occasion the US Food and Drug Administration (FDA) announced it was partnering with the National Organization of Rare Diseases (NORD) to hold listening sessions involving patients and FDA medical reviewers.

In a news release Peter L. Saltonstall, President and CEO of NORD, said:

“These listening sessions will provide FDA review division staff with better insight into what is important to patients in managing their diseases and improving their quality of life. It is important for FDA to understand, from the patient perspective, disease burden, management of symptoms, daily impact on quality of life, and patients’ risk tolerance. Patients and caregivers bring a pragmatic, realistic perspective about what they are willing to deal with in terms of potential risks and benefits for new therapies.”

FDA Commissioner Dr. Scott Gottlieb said his agency is committed to doing everything possible to help the rare disease community:

“Despite our successes, there are still no treatments for the vast proportion of rare diseases or conditions. FDA is committed to do what we can to stimulate the development of more products by improving the consistency and efficiency of our reviews, streamlining our processes and supporting rare disease research.”

At CIRM we are also committed to doing all we can to help the cause. Many of the diseases we are currently funding in clinical trials are rare diseases like ALS or Lou Gehrig’s disease, SCID, spinal cord injury and sickle cell disease.

Many pharmaceutical companies are shy about funding research targeting these diseases because the number of patients involved is small, so the chances of recouping their investment or even making a profit is small.

At CIRM we don’t have to worry about those considerations. Our focus is solely on helping those in need. People like Donovan Rivas.