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US Life Expectancy Declines Two Years in a Row

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Technological innovation. Novel therapies. Rising GDP and greater equality. All signs point to progress. But recent studies show that when it comes to life expectancy, we are moving backward. For the first time since the early 1960s, life expectancy in the United States declined for the second year in a row, according to a CDC report from December 2017. While the decline is small­­—two-tenths of a year from 2015 for men and no change for American women—this is unexpected as extraordinary medical breakthroughs occurred over the past two years such as immunotherapy for cancer and gene therapies. These health advances make the lifespan decline in the United States all the more surprising and leave one asking why?


The United States has not seen two years of declining life expectancy since 1962 and 1963 when influenza caused an inordinate number of deaths. In 1993, there was a one-year drop during the worst of the AIDS epidemic.


Back in the 1980s, our life expectancy compared much more favorably with other countries but over time, life expectancy in many other countries gradually rose higher than that of the U.S., Ellen Meara, associate professor of health policy and clinical practice at the Dartmouth Institute for Health Policy and Clinical Practice, told CNN.


“We have to look to see what we are doing or have been doing differently since the 1980s—it’s not like we can’t achieve what other countries have,” Meara said.


The decline is clearly not linked to health care spending as the US has some of the highest expenditures.


This dramatic trend over the past few years is largely attributed to a staggering 21 percent rise in the death rate from drug overdoses reflected in the sharp rise in the death rate among younger Americans. The death rate of people between the ages of 25 and 34 increased by 10 percent between 2015 and 2016, while the death rate continued to decrease for people over the age of 65. The full gravity of the opioid crisis is being felt all across the country, as drug overdoses rapidly increase and communities are left reeling. In 2016, more than 63,600 Americans died of drug overdoses, or 21 percent more than in 2015 according to another CDC report released in December.


“It’s even worse than it looks,” Keith Humphreys, an addiction specialist at Stanford University, told The Washington PostEvidence suggests that studies could be underestimating opioid deaths by 20 percent or more, as reported in the American Journal of Preventive Medicine.


“Even if you ignored deaths from all other drugs, the opioid epidemic alone is deadlier than the AIDS epidemic at its peak,” Humphreys said.


In addition to higher numbers of opioid-related deaths, deaths from eight of the top ten leading causes of death in the U.S. also increased in 2016 contributing to the lifespan decline. The mortality rate from stroke and heart disease, the two leading causes of death in the United States, increased in 2016 after steadily decreasing in recent years.


Scientists, physicians, experts and medical professionals realize these non-communicable diseases need to be addressed. In addition, the medical community must improve access and quality of care to create a healthier society. Income inequality, nutritional differences and lingering unemployment are also all major influences on the lifespan decline in the United States, experts say.


Moving toward a longer and stronger American life will require rethinking patient care within this country. Check in next week to read my insight on the way forward.

A Breakthrough in Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy (DMD or Duchenne) is a fatal genetic disorder that affects 1 in every 3,500 boys born globally. Duchenne results in progressive muscle weakness due to a mutation in a gene encoding for dystrophin on the X-chromosome. It first affects boys around age four and by age twelve, most people with Duchenne cannot walk. By age 21, most people cannot move below the waist. Few people with Duchenne live past thirty, due to the serious medical complications that include issues with the heart and lung functioning.
Researchers at the Cedars-Sinai Heart Institute offered hope last week to families of kids with Duchenne, when they released the results of the aptly-named “HOPE Duchenne” trial, a joint Stage I/II-A trial that used cellular therapy to treat Duchenne. In the trial, children with Duchenne were given cardiac progenitor cell infusions through a catheter placed in their three main arteries. Cardiac progenitor cells, are a certain type of stem cell that when signaled, develop into new heart tissue.
This is important for children with Duchenne, as heart tissue is, after all, muscle tissue, and Duchenne can lead to the wasting away of heart tissue just as it leads to the weakening of arms or legs. Later in life, cardiomyopathy is a grave concern for people with Duchenne. “Generally, the primary cause of death in [patients with Duchenne] is heart failure,” said Eduardo Marban, MD, PhD, the lead researcher of the study. “If we can slow or reverse heart failure in Duchenne patients, it will be a step forward.” But research to this point has not addressed this need.
“The need is great because there is no current treatment to address heart failure in these patients,” said Dr. Marban. Dr. Marban has been at the forefront of this area of research, developing the process to make the type of cell that the children were treated with, “cardiosphere-derived cells,” or CDCs. Cardiosphere-derived cells are harvested from donor hearts, so they carry none of the moral ambiguity of embryonic stem cells, and can easily be made available.
In the study, twenty-five children with Duchenne were treated. Twelve were treated with the experimental cellular therapy, while the other thirteen received the standard therapy for a child with Duchenne. The results were striking. The patients treated with cellular therapy had a 7% reduction in scarring from cardiomyopathy compared to when the patients started the therapy. For the children receiving the standard therapy, their scarring continued to worsen.
Muscular regeneration was not confined to the heart; the people that received the treatment had stronger arms, as well. One year after treatment, eight out of nine of the patients that had advanced impairment of the muscles in their arms showed improvements in their arm strength. In contrast, none of the patients receiving the standard course of treatment saw improvements and all continued to get weaker.
This study shows the promise of cellular therapy in helping people with Duchenne to live longer, happier lives. If studies like this can develop methods of treatment that can reverse, rather than just slow, the effects of Duchenne, that can lead to real advances in both length and quality of life.
Dr. Marban and his team are not done. Phase II trials for the CDC-based treatment of Duchenne are scheduled to start in early 2018. Dr. Ronald G. Victor, another primary researcher at Cedars-Sinai, says that in this trial, “instead of a one-time infusion during a cath lab procedure, the patients will receive the CDCs in an intravenous drip.” This would make the treatment even less invasive than in the stage I/II trial, and therefore more accessible to patients. Also, patients “will receive multiple treatments spaced out over several months,” according to Dr. Victor.
For parents of children with Duchenne, both now and in the future, this study offers hope that perhaps a cure is possible. Sometimes, hope makes all the difference in the world.

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Antibiotics: Friend or Foe?

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While many ancient cultures used molds and other plants to treat infections, it was Alexander Fleming who received the credit for the discovery of penicillin in 1928. The discovery of antibiotics is considered one of the most important advances in 20th-century medicine saving countless lives. So what is the catch? Antibiotics can disrupt our microbiome which helps perform many functions needed to keep us healthy, as well as can cause drug resistance. According to the WHO, if the necessary steps aren’t taken to counter antibiotic resistance, humankind is on its way to a future where minor injuries and infections can be a significant cause death.
Actually, according to the CDC, approximately 80 million antibiotic prescriptions per year have been deemed unnecessary and in the United States alone, approximately 2 million individuals are infected annually with bacteria that show antibiotic resistance causing 23,000 deaths. U.S. Antibiotic Awareness Week coming to a close for 2018 is a yearly national effort to help the general public be aware of antibiotic resistance as well as come up with improved guidelines for antibiotic use and prescription writing. The CDC is working to improve antibiotic use in health facilities as well as farms and this week-long effort coincides with the European Antibiotic Awareness Day, Canada’s Antibiotic Awareness Week, Australia’s Antibiotic Awareness Week, and the World Antibiotic Awareness Week showing this is truly an international problem.
Being aware of antibiotic resistance and improving prescription guidelines has become an international priority. So how do we fix this? Education is a good start. Like many lessons, education is key as many people use antibiotics when the pathogen is a virus, not bacteria. Some share their antibiotics with others and others use more than the recommended dose thinking the bacteria will die faster. According to the WHO, if the necessary steps are not taken to counter antibiotic resistance, in the future minor wounds and infections may cause death and the common strep throat or ear infection will become a parent’s worst nightmare.
Additionally, we must take into consideration the deleterious effects antibiotics may have on homeostasis, the equilibrium of the collective microbes that are within each of us composed of bacteria, bacteriophage, fungi, protozoa and viruses. This equilibrium can be altered when we take antibiotics or immunomodulators. Most of the microbes in the microbiome do not cause disease and in fact act to perform many important functions that we cannot perform ourselves. They digest food to generate nutrients for host cells, synthesize vitamins, detoxify carcinogens, metabolize drugs, stimulate the renewal of cells in the gut lining and activate and support the immune system. Microbes can adapt to exploit new habitats and carbohydrate composition seems to drive colonization by those microbes that have the ability to metabolize these body-site specific carbohydrates. This is important as high or low microbial diversity can have different implications for health or disease depending on body location. For example, it has been shown that low microbial diversity in the gut is associated with obesity, inflammatory bowel disease and Crohn’s disease, whereas high microbial diversity in the vagina is often associated with bacterial vaginosis. Loss of metabolic capabilities of certain microbiomes has been seen in particular diseases such as Crohn’s Disease, ulcerative colitis or neonatal necrotizing enterocolitis.
While these pathogens can cause disease in those individuals with weakened immune systems, these microbes are responsible for maintaining cell function and other properties needed for maintaining the body site ecosystem in healthy individuals. We have learned that the bacteria living in each of us are “friend” not “foe”, and we must stop and think before taking antibiotics which can destroy the equilibrium, which we so heavily rely on to stay healthy.

New Hope for Treating Cerebral Palsy

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Every parent-to-be’s greatest concern is that both mother and child turn out healthy. Tragically, this is not always the case, as children can be born with a litany of health problems. While advances have been made, treating birth defects remains a pressing concern. Of these diseases, Cerebral Palsy is one of the most common, affecting nearly one in 300 children born in America. It is the most common motor-related birth defect.

Yet the list of treatment options for CP remains stubbornly short, and no cure is available. Most treatment plans call for a combination of physical therapy—which can take the form of building strength in the affected muscles, speech therapy, or occupational therapy—surgery, and developmentally-appropriate education. But a new study published in Stem Cells Translational Medicine may provide new hope for families with children born with CP, and a new treatment in doctors’ regimens for treating CP.

In the study, researchers treated children with CP by using cord blood stem cells collected from the children themselves at birth. Different groups of children were injected with different amounts of cord blood, ranging from 10 to 50 million cells. The kids receiving higher doses (more than 20 million cells) showed marked improvements in mobility over kids receiving low doses or placebos.

“These initial findings mark an exciting development in the potential use of cord blood stem cells for treating Cerebral Palsy, and a significant step in establishing the role of cord blood beyond transplant medicine and into regenerative medicine,” said Morey Kraus, Chief Scientific Officer of ViaCord, the company funding the study, in a recent press release.

Highlighting the breakthrough nature of this study, Dr. Joanne Kurtzberg, the lead researcher of the study said: “This is the first demonstration of a therapy producing durable improvements in motor function in young children with CP.” She added that this study showed that cord blood infusions were “feasible, safe, and easily administered in the outpatient setting.” In addition to leading this study, Dr. Kurtzberg is also the director of the Carolinas Cord Blood Bank and Pediatric Blood and Marrow Transplant Program, and the Chief Scientific Officer of the Robertson Clinical and Translational Cell Therapy Program at Duke University.

Using a child’s own cord blood (so-called “autologous cord blood”) to treat that child is an exciting new frontier in regenerative medicine and stem cell research, made possible by advances in preservation technology, and a change in attitudes of new parents, who agree to have their child’s cord blood preserved. ViaCord has preserved the cord blood of 350,000 children, with the hope that it may, one day, be used to treat those children.

Patrick Rooney, one of the children who participated in the study, struggled with school, therapy and normal day to day activities most people take for granted. According to his parents, GiGi and Kevin Rooney, Patrick gained endurance, stamina, and confidence to try new things after the treatment. The researchers behind this study are not calling it a cure for CP. But for families like the Rooneys, any treatment that improves their child’s everyday life can be transformational. “Having [Patrick’s] cord blood and being in this study has tremendously impacted our lives for the better and we are truly grateful,” said GiGi and Kevin.

CP is not the only focus of Dr. Kurtzberg and the researchers at Duke. In April, Duke researchers released another study showing that cord blood could safely be used to treat children with Autism Spectrum Disorder. With the safety concerns alleviated, researchers are now studying whether cord blood can treat ASD effectively. The CP study took place over a number of years; surely, the ASD study will also but new medical treatments are on the horizon as we better understand the mechanism of diseases, the way stem cells work and how and when cell therapies can be used. With almost 30,000 clinical trials underway (, we continue to make progress in identifying which cell types are effective in treating different diseases and gaining insight into the proper dosages, delivery mechanisms and time of treatment within a disease sequela. Each morsel of knowledge and every scientific advance gives hope for the families of loved ones who are suffering from illness and congenital diseases. Just ask the Rooneys.

Cells Are the New Cure: The Cutting-Edge Medical Breakthroughs That Are Transforming Our Health by Robin L. Smith, M.D. and Max Gomez, Ph.D.

Cells are the New Cure

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The future of medicine is happening now. Revolutionary new science is providing cures that were considered science fiction five years ago – and not with pills, surgery or radiation– but with human cells.


Promising treatments now in more than 35,000 clinical trials could have dramatic impacts on cancer, autoimmune diseases, organ replacement, heart disease, and even aging itself. These treatments, which are saving the lives of patients in the trials, will soon be rolled to the medical community at large.


The key to these breakthroughs is the use of living cells as medicine instead of traditional drugs. Research has found that our bodies are virtual treasure troves of adult cells that act as agents of remarkable healing and repair. These cells have been called adult stem cells because they resemble embryonic cells in their ability to transform into many other cell types but without the ethical and moral concerns of embryonic cells.


Adult cells can reprogram cells to work more efficiently. They can also carry edited genetic code to repair mistakes and deliver targeted therapies, allowing them to address and even cure many diseases affecting children and adults.


The applications of these cellular therapies are broad and growing. Regenerative medicine allows doctors to repair injured and aging tissues and, incredibly, to create artificial body parts and organs in the lab. New technologies make it possible to harness the immune system to fight cancer and reverse autoimmune diseases like multiple sclerosis, type 1 diabetes, and rheumatoid arthritis. We’re also seeing advances to alleviate the effects of strokes, Alzheimer’s disease, and even allergies. CRISPR, a new technology for targeted gene editing, promises to eradicate genetic diseases, allowing us to live longer lives–possibly beyond age 100 in good health.


Cells Are the New Cure takes you on a tour of the most exciting and leading-edge developments in medicine. You’ll meet the doctors performing the lifesaving research and the patients who have survived illnesses that, before today, were considered a death sentence. The content inside these pages could save your life or the life of someone you love.



Visit for a complete list of retailers to purchase Cells Are the New Cure

A Talk With C. Randal Mills

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In April 2014, C. Randal Mills was named President and CEO of CIRM, the California Institute for Regenerative Medicine, a San Francisco-based agency created in 2004 to allocate over $3 billion in funding for stem cell research for California. As the former CEO of Osiris Therapeutics Inc., the first company to commercialize a stem cell treatment, Randal’s rise to the top of CIRM has significant implications for the U.S. cell therapy market, which is poised to grow to $5.7 billion by 2020.

I recently caught up with Randy to discuss his new role at CIRM and the road ahead.
RS: What inspired you to leave a successful public company that you built to join the public sector and take on CIRM?
RM: Well, in reality it was a two-step process. In December of 2013, I made the decision to step down as CEO of Osiris after an amazing, decade-long journey. Osiris had grown up. With three cell therapy products on the market growing at over 200 percent, having a market value in excess of a half a billion dollars, and being profitable, Osiris had turned the corner that many biotech companies never get the chance to. And so, with the company solidly positioned, I started discussing with my family what might be next, including taking a break to spend more time with them. However, fate had other plans.

In February I received a call from CIRM asking if I was interested in the President and CEO position. Having spent the past five years as a grant reviewer for CIRM, I was already quite familiar with the stem cell agency. If you believe in the potential of regenerative medicine and cell therapy as I do, there is no place in the world you could go to have a bigger impact. No company, no other state, not even a country can have the impact California can have in bringing these treatments to patients. And so with that, I accepted the challenge.
RS: At Osiris, you made history by commercializing Prochymal, the first-ever approved stem cell therapy, used for the treatment of acute graft-vs.-host disease in children, a lethal complication of a bone marrow transplant where the transplanted cells start to attack the patient’s body. How will that experience shape your work at CIRM?
RM: First off I need to correct you on one point. “We” made history, not “I.” Gaining approval for Prochymal was one of the greatest experiences of my life, but it would never have happened without the efforts of an extraordinary team.
Now to your point. One word: urgency. A child with severe GvHD has a median survival of just 87 days. Months, even days, equal lives. Watching a child die of an incredibly painful disease drives home in the most personal and powerful of ways that there is not a second to lose in this game.
At Osiris, we adopted a saying to help us make decisions. I even wrote it into one of our annual reports so investors would know what motivated us. It was, “If it were your child, could it wait?”
That question made for a lot of long nights and weekends but also kept the gravity of our work squarely in everyone’s mind. The same is true at CIRM.
RS: What are your top priorities for CIRM in the year ahead?
RM: Accelerating stem cell treatments to patients in need. That is our primary goal. Everything else is subordinate. We have developed a four-part test which the team and I use as a compass.
First, will what we are doing speed up the development of stem cell treatments for patients? Second, will it increase the likelihood of a successful treatment reaching patients? Third, is it for an unmet medical need? And lastly is it efficient?
For CIRM to achieve its full potential, I firmly believe we need to remain focused on bringing treatments to patients, fast. Everyone loves that word, “focus.” However, what they may not love is living with its reciprocal, which is everything else we don’t do. Without focus, you never have to have the hard conversation. You never have to say “no.” However, without focus, you also tend to not get things done. I came to CIRM to get stem cell treatments to patients in need, and that means focus.
RS: What do you feel are CIRM’s greatest successes to date? And what will change under your leadership?
RM: After five years working for CIRM reviewing grants, the thing I love is how they are always evolving to better serve their mission, being confident enough to say, “We don’t have it all figured out yet,” and open-minded enough to implement new ideas.
As for me, I am not here to change anything for the sake of change. I am focused on whatever accelerates stem cell treatments to patients with unmet medical needs. So to that end, I will listen to the team, to our stakeholders, to anyone with a good idea, and change anything that improves our ability to achieve the mission. We already have a few good ideas in the pipeline.
RS: What diseases and conditions are your top targets?
RM: My only consideration with respect to the disease is that it be an unmet medical need. That means a disease that does not have a treatment or the treatment is inadequate or intolerable. It also targets those indications or approaches that would not be attempted if not for CIRM.
RS: In the past, there was some criticism of CIRM for investing so heavily in the deep waters of cellular R&D — for not supporting more viable commercial plays that can deliver here-and-now therapies. Do you feel any of that criticism was warranted?
RM: You have to remember that in the early days of the agency, the field was still relatively young, and there were lots of questions that needed to be answered at the more basic level before we could begin funding more advanced programs.
CIRM exists under the principle of “If not for us….” California stepped up when, and most importantly because, others would not. Funding something here-and-now that will otherwise get done without CIRM is not consistent with what the people of California wanted to accomplish with Proposition 71. It also violates my third rule, because it wouldn’t really be an unmet need if it were going to happen in any event.
We are here to help get stem cell treatments that, if not for us, would take longer to reach patients or might not happen at all. If you look at the projects we support that are now heading into clinical trials, many would never have even gotten off the ground if it hadn’t been for us.
RS: iPS cells, or induced pluripotent stem cells, have been a total game changer for our industry, and CIRM has been adding them to its research portfolio. Do you plan to expand CIRM’s work in iPS?
RM: If doing so meets the four criteria. Again, for me, it is all about getting stem cell solutions to patients. I am technology and cell-type agnostic. I do want to make sure that while we are working on the next greatest thing, we are also pragmatic enough to not let “perfect” get in the way of “better.” In California we have some of the world’s best scientists working on cutting-edge technology. We also need to recognize that when something can meaningfully help a patient, it should be advanced, even if it is not perfect. Every great thing has a good first generation.
RS: It has now been 10 years since the passage of Proposition 71, the voter-approved initiative that created CIRM. Of the initial $3 billion in bond funding for stem cell research, the agency has allocated roughly $1.7 billion in grants. How do you plan to refill the coffers?
RM: That remains to be seen, but there are several options people are working on. My job, however, is to make sure CIRM performs as well as possible with the money we have, which is still a lot. One thing is certain: Our goal, for however long we are around, is to come to work every day as if people’s lives depend on us. Because people’s lives depend on us.

The Ice Bucket Halo

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As the founder of a healthcare charity, the Stem for Life Foundation, I am filled with awe and hope at the remarkable success of the Ice Bucket Challenge and Stand Up to Cancer. Taken together, these events have raised well over $200 million for their causes in recent months alone, providing needed funds for finding and developing cures for ALS and cancer, respectively.
As a whole array of new challenges spread across social media, I think it’s important to reflect on this transcendent moment in time. First and foremost, the success of both of these events offers hard proof that in today’s fast-paced, consumer-centered world, we all care deeply about one another — and, given the right opportunity, we will step forward to help those in need. The Ice Bucket Challenge, in particular, is uniquely democratic in its appeal. Rich and poor, famous and obscure, and people of every age, race and religion got involved in this remarkable cause. Facebook reports that over 2.4 million Ice Bucket Challenge videos have been shared on their platform to date, while YouTube has over 2.3 million of their own. Whole companies, whole families and countless celebrities — whether Bill Gates, Lady Gaga or David Beckham — took the plunge.
I’ve heard some argue that there was a “guilt factor” involved with the Ice Bucket Challenge. These naysayers claim that many gave because they were shamed into doing so. And while I understand how some might arrive at this conclusion, I simply do not agree with it. In my mind, it was those videos. It was seeing real people, no matter their station in life, step forward, one after another, and do something good for their fellow man. Some videos made us laugh; others made us cry. And in the end, they triggered a feeling of community. We wanted to be part of something that was beyond us. And I think you can find a similar appeal in Stand Up to Cancer.
Stand Up to Cancer’s first big TV telethon came in 2008 and generated over $100 million for translational cancer research, and their recent September event repeated that milestone. Nobody was shamed into giving to Stand Up to Cancer. Cancer touches everyone, and this remarkable organization succeeds because they remind us of this fact in a uniquely personal way. Indeed, one out every two men, and one out of every three women, will get cancer in their lifetime. So if not ourselves, cancer will surely touch someone we love. Stand Up to Cancer succeeds because they remind us that suffering from cancer is near and dear, and that, like the Ice Bucket Challenge, we can get involved.
In the end, I think there’s a remarkable ice-bucket halo effect rippling across social media, one that is truly exciting for anyone who runs a healthcare charity. Every single day I see a new healthcare challenge popping up somewhere. People are inspired. They feel connected like never before. And whether we’re talking about a disease like cancer that affects us all or a rarer one like ALS, they now understand that by getting involved and collaborating, we can try to create the cures the world desperately needs.

The Hunt for Cures

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Each year in the United States four million babies are born. Each birth is a time of great rapture and joy because of the tremendous amount of love and laughter an infant brings into one’s life. There’s nothing quite like looking at your baby and marveling at this miracle of life.
For some new parents, however, this ultimate happiness in soon tinged with great sorrow. About 3 percent, or 120,000 babies, will be diagnosed with a disorder that is caused by a mutation in a single gene. In the United States, newborns are screened for upwards of 50 different severe single cell disorders, which leads to immediate treatment for about 5,000 babies. But there are more than 1,000 genetic disorders that have already been described, some that are not so well described, and we still don’t have the means to screen for most of these.
“We call these rare ailments “orphans,” because they occur so infrequently. These diseases represent a massive collection of disorders that afflict fewer than 200,000 individuals for any single ailment,” says Stephen Groft, a key figure in revolutionizing the care and research of uncommon diseases when he directed the Office of Rare Disease Research (ORDR) in the National Center for Advancing Translational Sciences at the National Institutes of Health (NIH).
Current estimates indicate that there are more than 7,000 distinct rare diseases, and that this number increases by about 250 disorders annually. Today, more than 350 million people around the world have some kind of rare disorder. These ailments come with mysterious names and doctors often take a long time to diagnose them, if ever. They range from relatively well-known ailments such as cystic fibrosis and multiple myeloma to obscure and extremely rare conditions with whimsical or hard to pronounce names, including dancing eyes-dancing feet syndrome, lamellar ichthyosis, fibrodysplasia ossificans progessiva, and lysosomal acid lipase deficiency.
“Less than 10 percent of rare disorders have an effective treatment, let alone something that can change the destructive and often painful course of the disease,” admits Groft, a tireless advocate for rare diseases research for decades before retiring from ORDR in 2014. His major focus had been on stimulating research with rare diseases and developing information about these rare diseases and conditions for health care providers and the public. Thanks to the tireless efforts, of many scientists and leaders at the Research Institutes and Centers, including the National Center for Advancing Translational Sciences, NIH has now extended current research efforts beyond basic and clinical work to include translational research initiatives so that new treatments and cures for disease can be delivered to patients faster.
The Changing Rare Disease Drug Landscape
While rare diseases are truly rare—and some like lysosomal acid lipase deficiency have only a handful of people diagnosed annually with the ailment—the people who have them, children especially, and their parents, are not without hope. “Treatments have improved greatly over the years, thanks in part to the heroic efforts of parents, physicians and scientists determined to find the answers to help children born with mysterious and often untreatable genetic disorders,” Groft says.
“The Internet, Facebook and Twitter makes it easy to find like-minded people from all over the world to brainstorm ideas on how to raise the profile of the rare medical condition that concerns you.”
Groft is quick to point out that drug companies are also playing an important role in the rare disease arena. “Thanks to the scientific advances that have sprung from the decoding of the human genome a decade ago, drug companies are now employing stem cell and gene-based therapies, and using gene editing to target specific genetic mutations to take on the challenges posed by many rare genetic disorders.”
In 2015, the U.S. Food and Drug Administration (FDA) set a record when it approved 21 new drugs to treat rare diseases. Okambi, for example, is designed to treat the 8,500 or so cystic fibrosis patients with a specific gene mutation, while Kanuma, which was approved for the treatment of lysosomal acid lipase deficiency, will be used for the 20 new patients expected to be diagnosed this year.
The remarkable number of orphan drugs approved by FDA last year underscores the progress that’s finally being made in identifying and studying new therapies, and also points to the willingness of the often risk-averse investment community to fund orphan drug research.
“There have been many economic incentives,” Groft admits, “and this has played a big role in making rare disease research and discovery economically feasible. Tax credits, extended patent protection, reduced timelines for clinical development, exclusive marketing periods, and premium pricing have all helped power the recent surge in orphan drug development.”
There are now more than 452 medicines and vaccines in development for orphan diseases and many of these experimental drugs represent innovative new ways to target the rare diseases. “Optimism prevails,” says Groft. “Researchers are now considering possible treatments related to the development of traditional small molecules, enzyme replacement therapies, monoclonal antibodies, gene and cellular therapies, RNAi compounds, nanotechnology applications, and precision medicines.”
And while cure for many people with a rare disorder may not always be possible, the new treatments in the pipeline could eventually slow the progress of the disease and, possibly, when offered earlier in the progression of the ailment, offer hope not only for a better quality of life but a longer life as well.

The Power of Love

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Victoria Jackson shuddered uncontrollably when the doctor told her and husband Bill in 2008 that their 14-year-old daughter, Ali, had an extremely rare autoimmune ailment called neuromyelitis optica spectrum disease, or NMO for short. This was a serious illness with no approved medications, effective treatment or cure. The doctor explained that Ali’s eyes would be affected and she would go blind, and that her brain stem and spinal column would be attacked, eventually leaving her crippled.
As heartbreaking and demoralizing as the initial prognosis was, it got worse: Ali’s illness was terminal and she only had about four years to six years to live.
For people like Ali, the malfunctioning immune system proceeds to seek out and destroy crucial myelin cells, the protective covering around many nerve fibers in the eyes and spinal cord. Symptoms include rapid onset of eye pain or loss of vision, partial paralysis, shooting pain or tingling in the neck, back or abdomen, and prolonged vomiting. Ali Guthy has had 16 NMO attacks over the years, with each assault further damaging new areas of myelin.
Like most of the 80 types of autoimmune diseases, NMO typically fluctuates between periods of remission, with little or no symptoms, and flare-ups, where the symptoms worsen. Infants as young as 23 months and adults in their 90s have been affected. With no curative therapy, treatment for NMO has focused on symptomatic relief.
Immunosuppressants are the first line of therapy for NMO and these drugs help reduce the occurrence of attacks. But other drugs, including the cancer medication Rituxan, are often used off label to prevent relapses. “Ali swallows two bags of pills a day,” said Victoria, “but the dire prognosis we had originally been given has not come to pass. Her immunosuppressants and other drugs have kept her alive and happy over the years and she recently graduated from college, where she was president of the student body. “
Ali, like her two brothers, was a pretty healthy kid, so her NMO diagnosis came out of left field. It all started when she had lost her ability to see color and had trouble with her vision. Victoria thought she had a bad eye infection. After learning of the diagnosis, Victoria immediately went to the Internet. “We found about four sentences written, and the word fatal was in each of them.” Even more distressing: It seemed that Dr. Brian Weinshenker, a neurologist at the Mayo Clinic, was the only person in the world actively researching the disease. As Victoria soon found out, that’s because a medical condition like NMO is considered a “rare” disease.
“By definition,” said Steven Groft, the former director of the Office of Rare Diseases Research for the National Institutes of Health, “that’s a disease that affects fewer than 200,000 people. There are approximately 7,000 different diseases that fall into this category and less than 10 percent have an effective treatment.” It is difficult to find the research funding for rare diseases as these obscure diseases have such few candidates for a potential therapy which makes focusing on them difficult for a pharmaceutical or biotechnology company that have investors to consider.
Undeterred and infused with a life-and-death urgency, Victoria and Bill began their difficult journey to the front lines to save their daughter from a rare disease that threatened to take her life before her high school graduation. Jackson, the creator of the successful Victoria Jackson Cosmetics line, and her husband, who co-founded infomercial marketing giant Guthy-Renker LLC, have now spent millions of dollars of their own money since launching and funding the Guthy-Jackson Charitable Foundation in 2008.
Surprised and then angered to find the relative nonexistence of basic research, these business people-turned-philanthropists had the goal of fostering and catalyzing global research efforts to discover and develop a therapy that will help Ali and the hundreds of thousands of others globally who are affected by NMO.
“After Ali’s diagnosis, my focus went from mascara to medicine,” Victoria said. “I had to educate myself about medicine and autoimmune disease, start a national conversation about NMO where there was none and then help find a cure for a disease that had been totally ignored by researchers. Bill was the funder and I became the finder whose job it was to track down the top scientists around the world and then convince them to work on NMO.”
Both Victoria and Bill are successful self-made entrepreneurs who applied principles that they had used in creating their respective companies to then help build their new medical philanthropy. Since its launch, their Guthy-Jackson Charitable Foundation has personally backed dozens of NMO research projects at top medical institutions around the globe, created and hosts an annual three-day NMO-dedicated conference in Los Angeles that gathers all leading NMO researchers into one room and pays to fly in patients with NMO to attend the conference. Next month the foundation is sponsoring the first-ever NMO conference in Africa and supports international NMO Patient Days, bringing patients and stakeholders together for a day of education and sharing.
Because of increased focus on the disease, there may be up to 250,000 or more NMO patients worldwide. Still, drug companies have less business incentive in finding a treatment for this rare illness. But, as Henri Termeer found out years earlier, treating rare disease can be profitable. Termeer, the president and CEO of Genzyme Corporation, spearheaded his company’s efforts to come up with a drug for Gaucher disease, a rare debilitating genetic ailment that affects the bones and liver. After ten years of researching and testing, Ceredase was developed, and has now earned billions of dollars for the company after its approval by the Food and Drug Administration in 1991.
Last year, the FDA approved a record 17 medications for rare diseases. More than 450 other medications are now in development, thanks to philanthropists like Bill Victoria and patient-advocacy groups that are getting better at raising research dollars and using social media to recruit patients for rare disease clinical drug trials.
“Thanks to Bill’s and Victoria’s time, expertise and passion, 175 researchers in 30 countries are supported in their NMO work,” said Michael Yeaman, Ph.D., Professor of Medicine at the David Geffen School of Medicine at UCLA. “Many companies are now in pursuit of NMO treatment, including Opexa Therapeutics, Alexion, Chugai and Medimmune, and clinical trials are underway. The idea that we may re-educate the immune system to overcome its loss of tolerance is one of the most exciting directions that we are heading right now with NMO therapy. And if it works for NMO, it may work for other autoimmune diseases as well.”
Beyond traditional approaches, the foundation has made it a point to push the envelope in understanding the disease and finding a cure. It has engaged leading-edge companies and collaborators from Verily (Google Life Sciences), to the Immune Tolerance Network and NIH, to other special interest capabilities in its mission to solve NMO.
“Our work with the Foundation has been heavy lifting, but I am blessed that Bill and I have the money to pursue a cure. Going from making lip gloss to then spending time with the smartest medical people in the world, and now preparing to go to the Vatican next April to speak at the Conference on the Progress of Regenerative Medicine, has been quite an experience.”
“At the end of the day, the power of love drives all of our efforts,” admits Victoria. “We want to cure our daughter.”
For more information on the Guthy-Jackson Charitable Foundation please visit or download NMO Resources by The Guthy- Jackson Charitable Foundation on your Apple or Android device. For more information on the Stem for Life Foundation please visit

The Longevity Paradox

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Whether Methuselah or Dorian Gray, long lives and the idea of human immortality have always captured public imagination, inspiring countless works of art, religious dialogue and scientific innovation. And as I look across today’s medical landscape, and see so many promising breakthroughs for chronic illnesses on the horizon — such as cancer, heart disease and diabetes — I can’t help but project into the future.
According to a report from the United Nations, a woman’s life expectancy in the U.S. is currently 81 years, while men come in at 76 years. Just 50 years ago, by contrast, the average woman in the U.S. lived just 73 years, while men lived 66 years. That’s quite a striking contrast: we’ve added nearly a decade in life span in recent generations.
Though life expectancy figures are no longer climbing at quite the same pace that they used to, it’s not unreasonable to think that Americans will one day live to be 85 or 90 years old on average. And if this does occur, if we can develop cures for the diseases that ravage the body, will our minds be left behind? As our lives extend, will our brains be doomed to increased rates of Alzheimer’s disease, dementia and other neuro-degenerative diseases?
“The exact opposite is actually true,” says Dr. Nir Barzilai, director of the Institute for Aging Research at the Albert Einstein College of Medicine. “Many of the mechanisms central to the aging process affect the body and mind equally — they’re connected. So, as the body becomes healthier, and stays vibrant longer, research suggests that the mind stays healthier, as well.”
Barzilai would know. His landmark longevity studies on New York’s Ashkenazi Jews were the centerpiece of a major story from New York Magazine and demonstrated that, in the end, it’s our own genes that most determine our propensity to live long lives. Stated simply, if we possess a range of genes that protect against the “big four” — cardiovascular disease, cancer, diabetes and cognitive decline — we might very well live to 100.
In the face of genetic realities, however, major pharmaceutical companies and biotechs are seeking to develop a range of therapies that either supplant or support genetic weaknesses, or, as in the case of cellular therapies, actually seek to rejuvenate our cells, returning our bodies, and minds, to a more youthful state. The idea here is quite simple: Stem cells help repair and heal the body, but diminish in numbers and vitality as we age; thus, if we were to supercharge the body with new cells, we could, in theory, “turn back the biological clock.”
The greatest ideas are often the simplest ones, and cellular rejuvenation strikes me as a viable approach to organ viability and longevity. Fortunately, there are a broad range of life science companies probing these new frontiers with credible science, while following established regulatory pathways. In the years ahead, it will be vital that this important research be separated from the rising tide of “off the grid” stem cell clinics, peddling potentially dangerous cellular treatments, built around anecdotal evidence and false promises.
In the meantime, I think we should heed the words of Dr. Barzilai — “The best advice I could offer is to keep your body as healthy as possible. It’s the best defense against a declining mind.”