Posts (87)

5 days ago · New Start-Up on the Front Lines of the Fight Against Inherited Eye Disease

This story first appeared on the In the Loop blog.

When Alan Marmorstein, Ph.D., arrived on Mayo Clinic’s Rochester campus four years ago, he had a specific goal in mind: Find a way to counteract the vision loss that often comes with common and inherited eye diseases like macular degeneration and glaucoma.

The biggest break in that quest to date, the Rochester Post-Bulletin reports, came when Dr. Marmorstein and his lab team at Mayo Clinic developed a new process for growing retinal pigmented epithelium (RPE) cells, which are often used in eye-related research. According to the newspaper, the new and improved retinal cells, “perhaps created from a person’s own skin cells,” could replace the dead cells that cause macular degeneration. Researchers believe that transplanting these new RPE cells into the retina could restore vision to those affected by the condition.

To Dr. Marmorstein’s (and other researchers’) delight, these new cells, which are created from induced pluripotent stem cells, are proving to be “of better quality than the standard RPE cells” used in research.” And demand is growing, according to Twin Cities Business magazine. There’s just one catch. (Isn’t there always?) The process for making the new cells “is not trivial” and is “more expensive,” according to the P-B.

And so in 2015, Dr. Marmorstein launched LAgen Laboratories, a start-up company that focuses entirely on the “time-consuming,” “expensive” and “particular” process of growing the cells for use by scientists at academic research facilities around the world. Using the process he helped develop (and has since licensed from Mayo Clinic), Dr. Marmorstein and his small team at LAgen grow the cells in their “biologics manufacturing facility” in Rochester. When ready, researchers can order the cells “in flasks, in multi-well plates, and in other forms.”

“It’s painstaking to generate these cells, but they’re necessary to develop treatments for RPE-degenerative diseases such as macular degeneration, which affects as much as one-third of people older than 75,” Dr. Marmorstein recently told Mayo Clinic’s Alumni magazine.

And while the P-B notes that business is booming for LAgen, Dr. Marmorstein tells the paper his young company’s “ultimate goal is to treat macular degeneration.”

Getting there, he admits, won’t be easy (or quick). So for now, Dr. Marmorstein says he’s just happy to have the continued support of Mayo Clinic and the Rochester business community. “I find Rochester to be very supportive of start-ups,” he tells Alumni. “Mayo Clinic Ventures was encouraging and pointed me to local resources, including the Mayo Clinic Business Accelerator and RAEDI (Rochester Area Economic Development Inc.). One step led to another, and I connected with other entrepreneurs in the city who helped with aspects of business I wasn’t familiar with.”

You can read more about Dr. Marmorstein’s work to rid the world of inherited eye diseases here, here, and here. And check out Dr. Marmorstein’s recent video interview on requirements and procedures for clinical trial participation on the Macular News website, a service of the Macular Degeneration Foundation.



Thu, Aug 10 3:00pm · Researching the Use of Stem Cells for ALS - Nathan Staff, M.D, Ph.D.

Nathan Staff, M.D., Ph.D.

Nathan Staff, M.D, Ph.D., and his team are researching the potential of cell-based therapies to promote the healing response for patients with Amyotrophic lateral sclerosis, or ALS. A fatal neurodegenerative disease, ALS causes progressive paralysis and death in 2-5 years. Currently, no curative treatment exists for this devastating condition. While it is a rare disease, treatments for ALS may be translated to other more common neurodegenerative diseases such as Alzheimer disease and Parkinson disease.

Funding from Regenerative Medicine Minnesota, a state-wide initiative to improve the health of Minnesotans by advancing regenerative medicine research, education, industry and care delivery to patients, allowed Dr. Staff to initiate and conduct a Phase II study of mesenchymal stem cell therapy for ALS.

Learn more about Dr. Staff’s research:



Thu, Aug 3 9:51am · Persistence Powers Mayo Clinic's Approach to Adult-Derived Stem Cell Therapies

This story was previously published in Mayo Clinic Magazine.

Allan B. Dietz, Ph.D., never intended to be a scientist.

His plan was to be a farmer, just like his father, grandfather and all the other Dietzes he knew.

“I was going to be a farmer at first. Then I was going to be a veterinarian because that’s what farm kids who like science did,” Dr. Dietz says.

But the rural Iowa boy’s plans quickly changed when he lost interest in agriculture right about the time he entered the doctorate program for genetics in the College of Veterinary Medicine and Biomedical Sciences at Texas A&M University.

“I liked the science so much I decided to just do the science,” he said.

Humbled Daily

Dr. Dietz joined Mayo Clinic in 1996 and has been a driving force behind the research into medical treatments using cell-based technologies, including adult-derived stem cells known as mesenchymal stem cells. Dr. Dietz is the director of the Human Cell Therapy Laboratory. The lab develops cellular therapies to treat a variety of conditions.

There are versions of the lab at all three Mayo Clinic campuses with support from the Center for Regenerative Medicine. When a physician-scientist explores if stem cells or other cellular therapies could be an option for a patient’s disease or condition, he or she works with Dr. Dietz’s team to develop the protocol and cellular product.

This readily available expert support reduces the time it takes to move research from the initial concept to the actual creation of a product that can be tested.

“This is not a solo effort,” Dr. Dietz says. “I really believe that I have the most caring, hardworking team of physicians, scientists and support staff ever assembled. I am humbled daily by the opportunity to work with them.”

Without the lab, physicians could spend years gaining the expertise in stem cells as well as necessary Food and Drug Administration approvals to move into clinical trials. With assistance from Dr. Dietz’s lab, that time can be cut significantly — to less than a year in some cases.

“Dr. Dietz provided invaluable leadership in guiding us through the very complicated path of obtaining FDA approval for our first stem cell trials. Without Dr. Dietz, these trials would not have been possible,” says neurologist Anthony J. Windebank, M.D. “He has endless enthusiasm and a very practical approach to getting things done efficiently.”

That practical approach began when Dr. Dietz was a boy.

“My ability to solve problems and my work ethic come from growing up on a farm,” Dr. Dietz says. “On a farm, you’re almost always limited in resources. So your first response to any problem is, ‘How can I solve it with the things I have?'”

Finding a Powerful Tool

At the time he was recruited to work at Mayo Clinic in Rochester, Minnesota, there was no regenerative medicine field as it is thought of today.

The laboratory’s history is rooted in transfusion medicine — the act of collecting and testing blood to be given to patients at Mayo Clinic. In the history of blood banking, researchers found it to be a powerful tool for healing. “When you differentiate blood, cut it into different pieces, such as platelets, packed red blood cells or plasma, you have more treatment options,” explains Dr. Dietz.

“The body has tissues with powerful healing properties, and we just need to figure out how to tease them out.”

Recognizing the potential, Mayo Clinic sought a scientist who could take this research to the next logical extension and explore other opportunities for treatments created from human cells.

The field was so new and unexplored that Mayo Clinic did not even know how to advertise the position, but as luck would have it, there were a few researchers in transfusion medicine who knew a scientist known for taking on challenging puzzles. That scientist was Dr. Dietz.

The Next Step

Dr. Dietz started his work on cancer vaccines with the Mayo Clinic Cancer Center, and after developing one approach, he spoke to his division leader at the time, S. Breanndan Moore, M.D., to find out what he thought his next project should be.

“Dr. Moore said, ‘Why are you asking me? You’ll know,'” Dr. Dietz recalls.

As it turns out, he did.

Dr. Dietz was inspired by a single case study reported in literature of mesenchymal stem cells dramatically reducing one patient’s inflammatory response to graft-versus-host disease, which is often fatal.

“That was all I needed as a flag to go: ‘That’s the new thing we’re going to work on!'”

What came next was a six-year odyssey to do all the background scientific work to develop these cells as a powerful drug platform. Collaborating with Dr. Windebank, who was working with patients with amyotrophic lateral sclerosis (ALS) — also known as Lou Gehrig’s disease — Dr. Dietz realized that these cells could be a “last great hope” for these patients.

A New Inspiration

But it was not until the disease hit close to home that Dr. Dietz really understood what these patients and their families were facing.

As his team worked toward a clinical trial, Dr. Dietz was called into the office of Dr. Moore.

“He was a great practical joker, so he sat me down and asked, ‘How’s that ALS trial?’ and after being reassured that it was going well, he asked, ‘Do you think I’ll be eligible for it?’ At first, I thought he was joking, but he had been diagnosed recently with ALS.”

Dr. Dietz and his team applied to do a one patient trial so that they could bring the treatment more quickly to their friend and colleague.

“He didn’t want us to do anything to compromise the integrity of what we were doing, but we framed it as fast as we possibly could,” Dr. Dietz says.

The day they got the permission to run the single-patient trial, Dr. Dietz called Dr. Moore to share the good news. It was too late.

“He had been moved to hospice that morning,” Dr. Dietz says, his voice cracking. “So, Breanndan missed it.”

Devastated by the loss of his mentor, colleague and friend in 2009, Dr. Dietz and his team continued to plug away at the problem. This radical approach to treating patients rarely found support by traditional funding sources.

A Gigantic Unmet Need

While the Mayo Clinic Department of Laboratory Medicine and Pathology and the Center for Regenerative Medicine provided financial help for the Human Cell Therapy Laboratory, critical funding has come from benefactors. Dr. Dietz and the lab have done the heavy lifting needed to develop multiple cell-based treatments. This development work is amplified as this new important class of cellular drugs gets into the hands of physicians. The combination of the Human Cell Therapy Laboratory developing these drugs and clinical experts using these drugs supported by like-minded donors is a powerful combination.

“There isn’t anybody who’s not touched by one of these terrible diseases, and we started out purposely picking really tough ones like brain cancer, ALS, multiple system atrophy and wounds that won’t heal, because there is nothing else for these patients,” Dr. Dietz says. “It is a gigantic unmet need.”

And Dr. Dietz’s stubborn work ethic propels him to meet those needs for patients.

“Science is very much like a farm: an endless amount of work and a new flavor of problems every day,” Dr. Dietz says. “It is up to us to figure it out.”

Tue, Jun 27 12:26am · Regenerative Cardiac Synchronization – Satsuki Yamada, M.D., Ph.D.

A heart attack occurs when the flow of blood to the heart is blocked, most often by a build-up of fat, cholesterol and other substances, which form a plaque in the arteries that feed the heart (coronary arteries). The interrupted blood flow can damage or destroy part of the heart muscle. Satsuki Yamada, M.D., Ph.D., a recent recipient of a Regenerative Medicine Minnesota Translational Research Grant, is investigating the use of patient’s own stem cells as a new therapy to help reestablish and maintain a synchronized pumping motion in the infarcted heart.

Dr. Yamada is an assistant professor of medicine at Mayo Clinic. Her study seeks to develop a regenerative therapy to correct disrupted wall motion (“cardiac dyssynchrony”) after a heart attack. Under conditions replicating patient management of this resilient disorder, the safety and efficacy of a new class of patient-derived stem cells delivered into diseased heart regions will be tested by a multidisciplinary team. Successful outcome will provide the foundation for first-in-human studies targeting heart muscle synchronization in refractory heart failure.

Learn more about Dr. Yamada’s research:

Fri, May 19 10:35am · Immune-Building Stem Cell Research

Cesar A. Keller, M.D.

In the 1970s, when Cesar A. Keller, M.D., started his career in pulmonology, lung transplantation was widely considered science fiction. Now, lung transplantation is a lifesaving option for thousands of people every year, but it’s not perfect, Dr. Keller says. For adults, the five-year survival rate is about 55 percent, according to 2008–2015 lung transplant data from the Department of Health and Human Services. With the help of philanthropic support, Dr. Keller and colleagues in the Mayo Clinic Center for Regenerative Medicine are trying to solve the most lethal imperfection of lung transplantation, a syndrome called chronic organ rejection.

Moving From Rejection to Acceptance
Chronic rejection is considerably more common in lung transplantation than in other solid organ transplants. This is most likely due to environmental factors, which “the lungs are exposed to continuously, with every breath a patient takes,” Dr. Keller explains.

To solve that challenge, Dr. Keller and his colleagues are using tools that are today’s version of science fiction becoming science fact: stem cells and regenerative medicine. Stem cells have the ability to repair damaged cells, transform into almost any cell the body needs and temper the immune system. So, Dr. Keller’s team launched an initial clinical study to evaluate safety and dose considerations of stem cell use in lung transplant patients who have chronic organ rejection. Researchers also gathered data on whether the treatment may have potential for improving lung function or slowing the progressive decline in function that occurs with chronic organ rejection.

The study used bone marrow-derived stem cells, which were infused through an IV and circulated to the lungs. The lungs “trap all of the stem cells,” Dr. Keller says. His team is preparing for a larger clinical study that will be based on the initial study results. “It took us seven years from our concept to delivering stem cells to the first patient,” he says.
“It’s going to take at least another seven or eight years to see if this is successful.”


This research and other activities in the Center for Regenerative Medicine will be extended by another new technology that is coming to the Florida campus. In 2016, Mayo Clinic and United Therapeutics broke ground on a lung restoration center that could more than double the number of donor lungs viable for transplantation in the United States. United Therapeutics is working to improve donor lungs and make them suitable for transplantation
using “ex vivo lung perfusion technology.” The technology stores lungs in a specialized chamber and treats them with solutions and gases that can reverse lung injury and remove excess fluids.

Dr. Keller says the technology, which preserves lungs when they are outside the body, can be used to research the benefits of delivering stem cells to lungs before they are transplanted into a person. That strategy may help reduce immune system responses after the lungs are transplanted. “It was literally all science fiction when I began,” Dr. Keller says. “It’s interesting to think about where the field was when I started and to see these concepts become things we can apply.”





Fri, May 12 9:38am · Regenerative Medicine Minnesota 2017 Awards Celebration

Regenerative Medicine Minnesota is hosting its Annual Celebration and Look to the Future for the 2017 award winners in education, biobusiness and research. The awards will fund about 30 new and existing programs state-wide. Program leaders and supporters will discuss the current state and future plans for regenerative medicine in Minnesota.

Regenerative Medicine Minnesota is a state funded initiative aimed at improving the health of Minnesotans by advancing regenerative medicine research, education, and industry. Regenerative Medicine Minnesota leverages the strengths of Minnesota institutions to position the state at the forefront of regenerative medicine.

In addition to recognizing the awardees, the event includes a panel discussion with state representatives and senators on the importance of state investment in advancing regenerative medicine in Minnesota. The panel will be moderated by Jakub Tolar, M.D., Ph.D., director, University of Minnesota Stem Cell Institute, and Andre Terzic, M.D., Ph.D., Michael S. and Mary Sue Shannon director, Mayo Clinic Center for Regenerative Medicine.

The event and luncheon will be held on June 1 from 10:00 a.m. to 2:00 p.m. at Mayo Clinic in Rochester. If you are interested in attending please RSVP by May 24.


Fri, May 5 7:05am · Stem Cell Signaling May Repair Liver Injury

This story was previously published in Discovery’s Edge, Mayo Clinic’s research magazine.

Tushar Patel, M.B., Ch.B.

Researchers are continually learning more about the ability of stem cells to replace or repair damaged tissue. As it turns out, a signaling mechanism used by stem cells may also have therapeutic effects.

Two new studies from the lab of Tushar Patel, M.B., Ch.B., have suggested the salubrious effect stem cell extracellular vesicles, or EVs, may have on injured liver tissue. EVs are tiny pouches of molecules—including proteins, RNA and even some DNA—that are released by cells as a form of communication with other cells in the body. “They’re like Tweets, a brief, limited message that gets sent out by a cell and that can influence surrounding cells,” says Dr. Patel. But when the EVs come from bone marrow-derived stem cells, the message appears to promote healing of damaged tissue.

In their findings in Stem Cell Translational Medicine, Dr. Patel’s team explored the effect of EVs on mouse models of acute liver failure. The condition, which is serious in humans, is fatal for mice within hours. When researchers gave a group of mice either an infusion or direct abdominal injection of EVs, they found the vesicles migrated to the injured liver. But the most astounding result was that a day later, more than a half of the group had survived. “The results were quite dramatic,” says Dr. Patel, “and they were beneficial whether the mice received EVs derived from mouse stem cells or from human stem cells.”

As a potential therapy, EVs pose an intriguing alternative to stem cells because they avoid risks, such as the possibility of developing into a tumor. What’s more, the team found the vesicles worked just as well after being frozen for three months. “As we think about developing therapies for unmet patient needs, this means you could collect stem cell EVs, store them, and use them at a later date,” he says.

His group also explored whether stem cell EVs can improve the potentially dangerous inflammation that sometimes occurs in liver tissue following surgery. When reconnected to blood vessels that have been clamped during liver surgery, liver tissue can die from what’s known as ischemia-reperfusion injury. Similarly, reperfusion can present a challenge in liver transplants, especially when the organ is donated after a cardiac death. In the journal Liver Transplantation, Dr. Patel’s team reported that stem cell EVs can mitigate this kind of injury.

In both lab studies and in mouse models of hepatic ischemia, researchers found the reperfused livers fared better when treated with a bath of EVs. Measurements of ALT enzyme levels, an indicator of liver injury, were reduced from 10,000 IU/L to 500 (normal is 40), and the amount of dead tissue in the liver decreased from 50 percent to less than 5 percent. What this means, says Dr. Patel, is that EVs present a promising tool that could be administered to liver tissue after surgery, or before a liver transplant. “Ultimately, EVs might make more livers available nationally, especially at centers that currently pass on donated livers when they come available following a cardiac death,” he says.

Fri, Apr 28 4:03pm · Mayo Clinic and NASA – Exploring Two Frontiers

This story was previously published in Discovery’s Edge, Mayo Clinic’s research magazine.

Space—with near-zero gravity, no atmosphere, and extremes of heat and cold—is an unusual and often hostile environment.

But it’s also an opportunity—for medical researchers who see maladies and phenomena they can scarcely examine in the familiar environment of Earth.

Several Mayo Clinic researchers and clinicians are working with the National Aeronautics and Space Administration and other collaborators to learn more about the effects of space travel on the human body, to better equip humans to withstand long space travel, and to exploit the unique environment of microgravity.

“It’s difficult to believe that we won’t be learning things that will be applicable to clinical practice,” says Alejandro Rabinstein, M.D., medical director of Mayo Clinic’s Neuroscience Intensive Care Unit, who is investigating the feasibility of putting astronauts in a hypothermic torpor for transport to Mars. “There may be things that we are going to learn because we are going to be testing human physiology. That makes it particularly interesting to me.”

Stuck as Stem Cells

Astronauts spending long periods in space lose bone, muscle, and cardiovascular capacity. The problem may lie with the body’s stem cells—the wild card cells that take on various functions as needed and become bone cells, heart cells, or whatever else is required. In microgravity, stem cells multiply but remain stem cells. They fail to produce the specialized cells needed for tissue replacement and regeneration.

That’s a bad thing if you’re an orbiting astronaut. But it may be a good thing if, like Abba Zubair, M.D., Ph.D., you are trying to grow lots of stem cells.

Dr. Zubair, a laboratory researcher at Mayo Clinic’s Center for Regenerative Medicine, recently sent three lines of stem cells to the International Space Center. They were launched and arrived in February aboard flight SpaceX CRS-10.“People say you cannot make tissues because they are stuck as stem cells,” he says of researchers who have studied cell regeneration in space. “But I say, Oh, that’s what I want! I want the stem cells!”

Human stem cells are vital for research, for stem cell therapy (such as bone marrow transplant for the treatment of bone or blood cancers), and regenerative tissue therapy. Dr. Zubair, in fact, is researching the use of stem cells to help patients recover neurons and blood vessels after a stroke. But stem cells are hard to grow in quantity.

“We do have an idea of how to stimulate them in the lab, but it is so difficult,” says Dr. Zubair from his lab at Mayo Clinic in Florida. “When you do that, you end up with more what we call differentiated cells, meaning non-stem cells that have limited life span and don’t function like stem cells.”

Abba Zubair, M.D., Ph.D.

When word went out that NASA was looking for research uses of the space station with the potential for commercial application, Dr. Zubair submitted his proposal. “Other than being interested in the science part of it—how gravity affects cell division, especially stem cells—our main focus is how feasible is it to grow cells at the International Space Station and bring them back for clinical application. We want to treat patients.”

In February Dr. Zubair sent up mesenchymal cells that he has been researching to treat stroke patients, a hematopoietic stem cell, and a leukemia cell line with a cancer stem cell in it—in a bioreactor the size of a large microwave. Activated by changing temperature, the cells grew in carefully controlled conditions under the watch of astronauts and real time imaging for between two and three weeks. The experimental package was returned to his lab in mid-March.

He will continue to grow the cells on earth to see how their growth changes in comparison to a control of three cell lines that remained on Earth. He will examine gene expression and cell functionality in lab animals to see if the cells might be safe to use in humans.

If growing stem cells in space proves feasible, Dr. Zubair imagines a future in which cells are continually grown in a space station or satellite and harvested for use in patients. It may even be possible to generate human tissues and organs in microgravity, where 3D structures are easier to grow.

“Growing up in Africa, I got fascinated with that twinkly light in space. I always wanted to be an astronaut,” he says. “Then in high school my career adviser looked at me and said, ‘By the time Nigeria sends a rocket may not be in your lifetime. You better think of something else other than being an astronaut. So I went into medicine.”

Cool Trip to Mars

When astronauts travel to Mars, they will follow an elliptical path known as the Hohmann transfer orbit for about eight months. They will eat, drink, breath, and excrete waste, which will tax the systems of the spacecraft. And they will be bored out of their minds.

“We have to find a way to minimize the metabolic demands of the astronauts and to make the long travel more tolerable from the psychological standpoint,” says Alejandro Rabinstein, M.D., who is working with SpaceWorks, an aerospace engineering firm in Atlanta, which received a grant from NASA to investigate putting astronauts into a hypothermic torpor.

“Hypothermia reduces metabolic demand and puts the brain in a state of rest,” says Dr. Rabinstein. “You do not form memories, which would be psychologically beneficial.”

Hypothermia is most familiar to us as the consequence of falling into cold water or being cold and wet for a long time. As the body’s core drops below 95 degrees F (from 98.6 degrees), shivering stops, the pulse weakens, breathing slows, and the patient loses cognitive abilities and then consciousness. Unabated, hypothermia kills.

Alejandro Rabinstein, M.D.

Hypothermia also has clinical uses, which is Dr. Rabinstein’s focus. Mild therapeutic hypothermia protects the brain and improves short-term neurologic recovery and survival in victims of cardiac arrest. Even in a hospital setting, there are risks in rewarming patients. Fluctuating potassium levels can trigger cardiac arrhythmia.

“On the other hand, that is with sick people to begin with,” says Dr. Rabinstein. “Astronauts are the ultimate healthy people. If this is going to work, they would have to go through a very strenuous preparation to be able to tolerate hypothermia.”

The plan is to cool the space travelers with gas through a nasal tube until their core temperature drops to about 91 degrees (33 degrees Celsius) over about four hours. Metabolic rate would drop 50 to 70 percent. Astronauts would be fed an intravenous solution of glucose, amino acids, lipids, and vitamins, and minerals.

Astronauts would rotate between being hypothermic and being awake as others go into torpor. Astronauts would probably have to take sedatives to withstand the unpleasant transition to hypothermia. “Once you reach the target temperature, then the brain starts shutting down. So once you reach that state, it’s probably more comfortable,” says Dr. Rabinstein. “I have never been at 33 degrees myself. I don’t know that I would like to be the one to try it.”

Dr. Rabinstein is working with Matthew Kumar, M.D., a Mayo Clinic anesthesiologist, who is studying induced hypothermia in pigs—“as close to humans as we can get without using human volunteers,” he says.

“It sounds like science fiction because it is science fiction,” says Dr. Rabinstein. “The aim of this work is to find ways to put astronauts on Mars. I don’t think I will ever see that. But it seems to be as reasonable a first step as one can think.”

So Little in Common

What do astronauts with vision problems and women with polycystic ovary syndrome have in common?

It’s not ovaries. All people diagnosed with the syndrome are, of course, women. All the astronauts with these particular vision problems are men.

What they do have in common is a set of genetic variants associated with something scientists call the “one-carbon metabolism pathway,” which is how the body processes several B vitamins.

Alice Chang, M.D.

In women, these genetic traits are associated with polycystic ovary syndrome, a common endocrine system disorder in which women may have enlarged ovaries that contain many small follicles of fluid. Women with this condition may experience infrequent or prolonged menstrual periods, unusual hair growth, acne, and obesity.

In astronauts, these same genetic patterns are associated with eye issues such as folds in the choroid (underlying the retina), cotton wool spots (where nerves in the retina have been damaged), optic disc edema (swelling of the spot where the optic nerve joins the back of the retina), and increased incidence of intracranial hypertension (pressure around the brain). These vision issues are being recognized as one of the leading health risks of space flight.

What is most unlikely about this story is that anyone made the connection between the syndrome and astronauts’ vision problems in the first place. That honor goes to Scott Smith, Ph.D., the lead investigator at NASA. He made the connection by reviewing medical literature, says Alice Chang, M.D., a Mayo endocrinologist who specializes in polycystic ovary syndrome. “When they focused on the one carbon metabolism pathway and did the literature search, they noticed that there are some things that were shared.”

Dr. Chang got involved after Dr. Smith talked about the astronauts with a Mayo colleague at a conference. Now she and he are collaborating on research to compare the genetics of astronauts with vision problems to women with the syndrome and idiopathic intracranial hypertension.

“Ultimately the astronauts would benefit from this, probably in terms of direct benefit, if they can figure out what the underlying cause of the vision problems are,” Dr. Chang says.

Dr. Chang’s investigation may benefit Earth-bound women as well. “For those groups I think we’re going to learn a lot more about what potential risk factors might be underlying intracranial hypertension [often associated with the syndrome] and then for polycystic ovary syndrome, whether we should be screening more for vision problems or looking more at this pathway,” she says.

Why don’t women astronauts get these kinds of vision problems from space flight? Dr. Chang suspects because women with these genetic markers are likely to show signs of polycystic ovary syndrome and have been weeded out as candidates.

The relationship between astronauts and women with the syndrome may signal that it’s time to change the name of the syndrome, she says. It could be that the name prevents doctors from seeing a manifestation of the syndrome in men because, of course, they don’t have ovaries. But they may have other symptoms, such as vision problems.

“This is really a fun and great story,” says Dr. Chang. As a scientist, this is what you dream of—that people will look through the literature and find these connections and look at conditions in a new way.”

Bone Lost in Space

Long-term space travelers lose bone, especially in their hips and legs. Because the skeleton supports little weight during long periods in microgravity, the body resorbs bone and doesn’t replace it. Astronauts in one month can lose what a senior citizen would lose in a year—about 1 percent of the body’s bone mass.

Shreyasee Amin, M.D.

But not all astronauts are affected equally, and Shreyasee Amin, M.D., a Mayo Clinic rheumatologist and specialist in osteoporosis, would like to find out why. She is currently working with investigators at NASA to explore reducing fracture risk following long-duration space flight.

“There are some people who have very little bone loss, and there are others that have had a significant amount of bone loss,” she says. But it’s not clear why. Is it the amount of exercise during space travel? Or their level of activity before leaving Earth? Or age? Or identifiable genetics?

“The main concern is coming back to Earth or going to another partial gravity environment, such as Mars or the moon, where you are expected to do a lot of tasks and weight bearing on bones that may be quite weak,” she says. And it’s not guaranteed that astronauts will make a full recovery of their bone even back on Earth, despite a lot of rehabilitation through exercise. So Dr. Amin and colleagues are looking at ways to prevent or minimize bone loss in the first place.

Astronauts already exercise on treadmills, stationary bikes, and a simulated weight machine to try to stem the lose of muscle and bone. But researchers are also investigating the use of medications such as bisphosphonates, commonly prescribed to prevent osteoporosis.

The goal, Dr. Amin says, is “to prevent the bone loss that is occurring in space so that when they come back to earth they are not at much higher risk for fractures.”

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