French doctors offer hope to people with sickle cell disease with a successful DNA reversal treatment on a teenager – Ventures Africa

Thanks to the constant advancement of Science, a cure may have been discovered for sickle cell disease. Doctors in Paris have monitored and confirmed the success of a DNA reversal treatment carried out on a teenager 15 months ago. Since the disease is such that the bone marrow produces deformed red blood cells, scientists altered the genetic instructions in his bone marrow, so it produced healthy red blood cells.

James Gallagher for BBC reports that the teenager had his bone marrow taken out, stem cells harvested and genetically altered with a virus to infect it with correct instructions. Next, he underwent chemotherapy for four days to eliminate his diseased stem cells, before the corrected bone marrow was replanted. Since then, the teenager has received a clean bill of health. So far the patient has no sign of the disease, no pain, no hospitalisation We are quite pleased with that, Philippe Leboulch, a professor of medicine at the University of Paris, told the BBC.

Prior to the surgery, the condition of the teenager is said to have been critical. So much that he needed to have his spleen removed and his hips replaced. He also used to have a monthly blood transfusion to dilute his defective blood. But now, he no longer requires a transfusion.

Although Professor Leboulch is hesitant about asserting the treatment as a cure for sickle cell anaemia, the success of the pilot case is a significant milestone in the treatment of the disease. According to the professor, there needs to be more performance of this therapy on several patients to create a certainty that it is robust enough to propose it as a mainstream therapy.

However, just as the bone marrow transplant, the only known cure for sickle cell anaemia is expensive, this pioneering treatment is quite costly and can only be performed in highly advanced hospitals. This already poses a huge challenge to the African continent where the disease is predominant, as the cost implications are bound to widen between developed and developing countries, largely due to exchange rates.

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French doctors offer hope to people with sickle cell disease with a successful DNA reversal treatment on a teenager - Ventures Africa

Spokane woman willing to fight rare disease to the end – MyNorthwest.com

Cat Davis' body is hardening on the inside and outside due to a disease called Scleroderma. (Cat Davis)

There are walks, runs, auctions and GoFundMes for every cause under the sun, and theyre all vying for your money. That, perhaps, makes it even more difficult to get people to pay attention to Scleroderma, a disease that hardens organs to the texture of leather and has no cure.

But there is Cat Davis.

I met Cat four years ago while working for KXLY TV in Spokane when the first attempt to save her life launched. The first thing you notice about Cat isnt her disease its her smile. A big, toothy smile that stretches from ear to ear. She beams despite her seven-year battle with Scleroderma.

Sclero means hard and derma means skin. Its a very literal translation.

If somebody touches their hand, for instance, the top of your skin, that skin moves. Mine doesnt. Thats how tight it is. My fingers are not straight, they are curled because the skin is pulling so tight. Basically, my body mass produces collagen so my skin is almost leather-like, Cat explained.

Her body is slowly hardening on the outside and on the inside.

My esophagus is completely paralyzed from it and also most of my digestive system is paralyzed, Cat said.

She was diagnosed when she was 22, and with no cure in sight, she isnt sure shell live much longer. That isnt because she hasnt tried.

Four years ago, Cat launched a successful campaign to raise enough money for a procedure doctors believed would save her life. The Spokane community together raised $150,000 for the stem-cell transplant of her own stem cells.

It worked, but only for the first two years. She relapsed.

My skin started tightening again, skin started curling, I was really devastated. After the first transplant, I saw positive things from it, but I never was super well if that makes sense. I would watch other people who had done the transplant and kind of been following their stories and they were back to work and that was never me, Cat said.

She was devastated but never deterred, despite losing her father to Alzheimers Disease just three months ago and her family losing their home of 30 years under crippling medical bills.

Cat has never lost her hope or her sense of mission. This time, she says, its not about saving just her life.

Ive had some of my closest friends die from Scleroderma over the last couple of years, and that is why I do what I do. I do it for them. I do it for myself. I do it for everyone out there with Scleroderma who doesnt have a voice. For the unheard. For the too sick to speak out. I am fighting for everyone, Cat said.

Her mission is why shes willing to be what she calls the guinea pig for another procedure a stem-cell transplant from a Scleroderma-free, perfect match. That would be her brother.

No one with her condition has ever had both stem-cell procedures. She had to convince a doctor to be the first.

Im pretty convincing. I know what I want. He was iffy at first and I just was like you have to meet me, you have to see that I am strong and I want this and I can fight. I just need you on my team. And we met and afterward he was like, Im on board, Cat said.

So, CureforCat.com has launched again with everyone she loves giving you every reason you need to support this one cause. a video on the homepage features her mother, her brothers, friends and community members who believe in her mission to fight for everyone suffering from this rare disease.

Every day I wake up and something is different. Ive lost another thing that I can do. and because we dont know whats going to happen with the transplant whats going to be reversed, whats not we need it now. We dont need it in six months or a year. I wont even be alive in a year. Thats how sick I am. So its an urgent thing and I need the money ASAP, Cat said.

She needs $500,000 for the stem-cell transplant alone. Like last time, in addition to her disease, Cat has also been battling Medicare. Scleroderma is not on their pre-approved list. Shes had six of her doctors write letters on her behalf, but still no insurance coverage.

If shes able to successfully raise the money for the procedure, shell stay down in Los Angeles for recovery and care. The risks include graft vs host disease which gives her only a 50 percent chance of survival.

Whether this transplant works or not at least I will have fought all the way until the end, Cat said.

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Spokane woman willing to fight rare disease to the end - MyNorthwest.com

This University of Nevada Student Proved Doctors Wrong About MS – Study Breaks

Multiple sclerosis left Alexa Silvers legally disabled at sixteen, but an unpublicized treatment option completely cured her.

By Tylah Silva, Emerson College

Alexa Silvers is a college student, survivor and an all-around amazing human being.

The biggest obstacles most of us had to face at sixteen were hormonal acne and a bad breakup. Silvers had to deal with multiple sclerosis. The autoimmune disease known as M.S. attacked her legs and put her in wheelchair. The doctors told Silvers that treatments could help, but that ultimately her condition was permanent.

They were wrong.

Through it all, Silvers kept a faithful mind, putting her efforts into her treatment and researching a cure. Then, she stumbled upon stem cell research. With the help of her mother, many charitable donators and a staff of skillful doctors, Silvers was cured after having M.S. for four years.

Now, this University of Nevada at Reno student is making an effort to get the word out on stem cell treatments.

Tylah Silva: What was it like being diagnosed with M.S. at 16?

Alexa Silvers: It was completely life changing. I suddenly felt like an outcast, and felt like I was dealing with an issue that even my closest friends didnt completely get. I kept it a secret as best I could, but as my condition worsened, it became harder and harder to hide.

UN student Alexa Silvers

TS: Had you ever heard about M.S. before you were diagnosed?

AS: I had never heard of it until I started experiencing weird symptoms. Every Google search led me to undeniable M.S. When I brought the possibility up to my physician, she actually laughed and told me it was impossible for someone my age to have a disease like M.S.

TS: Were you frightened by your diagnosis?

AS: I was terrified. The scariest part of multiple sclerosis is its unpredictability. I was already legally disabled at 16, and I had no idea if I would wake up one day not able to walk suddenly. It was a constant struggle, countless failed medications, neurologists telling me that patients with images like mine should already be in a wheelchair, and that every day I wasnt I should be cherishing.

TS: What methods did you use to cope with your ailment?

AS: I am very strong in my faith. I notice that some people, when faced with adversity, tend to adopt a victim mentality and distance themselves from church and all support, but I made a conscious choice to do the opposite. I surrounded myself with people who helped me stay hopeful even when things werent looking great.

TS: How did your family and friends react?

AS: My family and closest friends were amazing, I did not want to be treated differently, and they were really great about making sure things still felt normal. Although, I think a lot of people didnt really understand, and to this day still dont. It was a lot of but you look fine.

TS: How did you stumble upon the stem cell research?

AS: I was running out of options as far as common M.S. treatments go. I had just relapsed on my third therapy, and decided there had to be a better option than a medication that only slows disability progression down 40 percent of the time. I watched M.S. news articles closely, and one day came across an article on a stem cell treatment that was successfully halting M.S. in England.

I immediately began searching on clinicaltrials.gov for a similar study in the U.S. I found one that Dr. Richard Burt had been conducting in Chicago for over 10 years. It had almost a 90 percent success rate in stopping disease progression. I just remember thinking, this has been happening since before I was born, and none of the many neurologists I have seen have even thought to mention it. This is a government trial with results posted in JAMA, and theres no way they havent heard of it. It really is a disservice to autoimmune patients worldwide.

TS: Have you heard any other stem cell success stories that have inspired you?

AS: Hundreds! I met so many other patients, even in just the two months I was in Chicago for my transplant. It is the most effective treatment for autoimmune disease, and it is saving lives.

TS: Do you have any thoughts about the future of U.S. healthcare as someone who is affected so personally by it?

AS: This experience has been very eye opening to where this countrys healthcare priorities lay. The fact is, a cure for autoimmune disease takes money away from big pharma. With all the successful trials already conducted with HSCT, statistically there is no logical reason it is not yet approved for treatment of MS. Stem cells have so much potential for future use; I have even seen ALS being treated with a similar protocol in the news very recently.

TS: I saw your Go Fund Me page that hit over its $115,000 goal. What was it like to get that kind of support?

AS: I never expected that level of support. It just went viral overnight. I remember the amount was stagnant for weeks, and one morning I woke up and it was over eighty thousand. Every time I refreshed the page it went up even higher.

I was crying all day, I couldnt believe this was all happening so quickly.

For the first time in years, I felt without a doubt that everything was going to turn out okay.

TS: What is like being M.S. free after so long?

AS: Its very surreal. I dont think Ill even completely believe it until I get my repeat images. Its crazy trying to comprehend that this is it. I notice improvements all the time; for example, I used to have to hug the rail on stairs and slowly guide myself down, and now I fly down hands free most days, not even thinking about it. I feel like I have my life back, and its the biggest blessing I have ever received.

TS: What is your relationship with your body now?

AS: I feel much more confident. Looking back at what I was able to get through reminds me not to sweat the little stuff. Being diagnosed with a chronic debilitating illness at 16 and completing an intense stem cell transplant three years later is not a small feat. I try to remember all I was able to accomplish.

I have lingering fears of course. This treatment doesnt heal existing nerve damage immediately, so I still have days where my symptoms resurface. I have to remember not get discouraged by the bad days; recovery is a roller coaster.

TS: What are you hoping for by getting your story out?

AS: I am hoping that this story can get to as many people as possible. Millions are affected by autoimmune disease or know someone who is, and if one person pursues a stem cell transplant after hearing my story, that makes it all worthwhile.

TS: What do you want people to know about MS or stem cell research?

AS: I want to make sure people know that if you choose to pursue a stem cell transplant, it may well be one of the hardest things you ever have to go through. At times it will be scary; you may feel weaker than you ever have and you may question your ability to cross the finish line, but a lifetime with an unpredictable chronic illness is much more terrifying. This is the best treatment out there. It gives second chances and a newfound appreciation for what it means to be in good health.

TS: Whats your next step?

AS: I will be returning to Chicago periodically for the next 5 years to get follow-up imaging. These MRIs will confirm my M.S. is in permanent remission. In the meantime, I am back at school pursuing a degree in Nutrition and Dietetics. I plan to take my life back and live it to the fullest. Never take your good health for granted, it is one of the greatest gifts you could ever receive.

Alexa SilversM.S.multiple sclerosis

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This University of Nevada Student Proved Doctors Wrong About MS - Study Breaks

Dying to live (A young woman with a rare disease pushes to find a cure) – Rio Rancho Observer

A thin-green, extra-long oxygen tube bends and swirls across the tile floor of a kitchen in one nondescript Rio Rancho home.

On one end of the tube is a giant collection of heavy oxygen tanks lined up by the front door. On the other end gasping for her next breath is 25-year-old Anna Wenger.

Wenger has Systemic Diffuse Scleroderma, a rare disease that affects the skin, organs and immune system.

Its an auto-immune illness and theres two different kinds, Wenger said expertly. One is the diffuse and theres the limited; the diffuse is the worst kind because it hits your organs and limited just means its on the outside.

According to Wenger, this disease causes the body to produces too much collagen, which tightens the skin on the outside of many external body parts. Diffuse means the disease tightens the organs causing many internal health problems.

My lungs and all of my arteries are hardening, Wenger said. For a while, I was only experiencing the external symptoms, but when I turned 22 it started hurting me internally.

Wenger said this disease affects around 300,000 people nationwide and, of those diagnosed, many only have the external or limited symptoms.

Before Wengers diagnosis, she says she was an active child who enjoyed swimming, cheerleading, and playing soccer.

We would go to the lake every weekend and I had just started roller-blading, Wenger said. All of a sudden I lost a dramatic amount of weight, and started slowing down. I didnt notice it but those around me noticed it and thats when I went to the doctor.

Doctors diagnosed Wenger with Systemic Diffuse Scleroderma at 12 years of age, and told her mother she wouldnt live past 20. But Wenger said she didnt feel much different until a year later, when she noticed ulcers forming on her elbows.

Because of the rapid movement of the disease I lost some of my fingers and toes, Wenger said. The doctors gave me prednisone and methotrexate, which just wasnt helping.

Going to school became almost impossible at this point in her life, she said. After dropping out of school and trying to take her medication, Wenger noticed she was rapidly getting worse.

After 10 years of external symptoms only, it started hitting my organs really bad, Wenger said.

She was living on her own in Arizona dealing with her symptoms, she said, when everything changed.

I was happy I had outlived the date doctors said I would die, when I became so ill I had to move to New Mexico to receive help from my mom, Wenger said.

One day, after moving in with her mother, Wenger said she felt really cold and could not breathe very well.

We went to the hospital and they put me on oxygen, then I got really hungry and ate some (fast food) and went into heart failure, Wenger said. Then I had to be incubated and woke up five days later on life support and 33 liters of oxygen.

Every day has been different for Wenger since that fateful incident, she said. Now Wenger has to prepare a specific low sodium diet from scratch on a regular basis that does not interfere with her symptoms. Wenger also has to be hooked up to oxygen everywhere she goes to compensate for her lung functions due to the reaction of her disease.

Although many people would be devastated by this sudden lifestyle change, Wenger stays optimistic, because she says she knows of a possible cure.

With a stem cell transplant, doctors take out your stem cells, and then they harvest them to get them healthier, Wenger said. Then you go through five days of intense chemotherapy and then they put the cells back into your body to re-start your immune system.

The cost of the procedure that may cure Wenger is $150,000, plus an additional $25,000 for the evaluations from a specialist, she said.

Thats not even including lodging and food and everything else, Wenger said.

This procedure, which is still in trial, is not covered by Medicare, she said. Add in the fact that Wenger has heart issues puts her at-risk for many of the clinics providing stem cell replacement.

Stretching resources is a daily battle for Wenger, who lives on $700 a month, she said.

If I hadnt moved in with my mom, there is no way I would make it through, Wenger said.

Theresa Johnson, Wengers mother and main caregiver, said she fell to the ground after hearing her daughters initial diagnosis.

I really had a hard time getting my head around it, Johnson said. At that time, when she was 12, she was barely walking because the symptoms got so bad.

Johnson said her daughter was a natural competitor that excelled in sports and loved dancing.

When this disease hit her body, it hit her skin very rapidly and she tightened up and could not move. Johnson said. For a long time the disease stopped at her skin and did not go into her organs, so we were hopeful.

Now, with full understanding of the seriousness of her daughters disease, Johnson said she is looking for ways to help find a cure.

Sacrifice is the main thing, Johnson said. I dont want anything for myself everything is for her and my son. I will do anything to see her get better. If I have to lose my home I will lose it whatever.

Although Wenger is limited on her mobility, she said she likes to stay busy and active working on many projects.

I like a lot of different things. I like to put together furniture, I love painting and thats pretty cool that I can still do it even though half my right hand is missing, she said, laughing at that.

Wenger has also put together a Scleroderma support group that meets the second Saturday of every month at Sabana Grande Recreation Center, just down the street from her home.

I had 15 people meet up at my last support group, Wenger said. I am the main person who does this, but the people help me put up the chairs.

Family members and people dealing with Scleroderma are in attendance, she said.

I love doing this; it makes me feel good and all of the members are so sweet to me, Wenger said.

Wenger kept her diagnosis a secret for a long time because she was afraid people would treat her differently, she said.

I just wanted to be a normal teenager, Wenger said. Now that I look back, I shouldve raised awareness of my disease to help others with the same symptoms out, thats what I am doing now.

Wenger said she feels blessed to still be able to do things because she knows of so many with the disease that cant.

I can still make my own food, change my clothes, take a shower and do daily tasks, Wenger said. I still count my blessings.

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Dying to live (A young woman with a rare disease pushes to find a cure) - Rio Rancho Observer

Luciano: When nursing home says hit the road, what if you can’t walk? – Peoria Journal Star

Phil Luciano Journal Star columnist @lucianophil

WASHINGTON Like many 16-year-olds, Jason Hermacinski insists he knows whats best for himself.

From his long-term-care room at Washington Christian Village, he demands, I want to go home. I dont see any reason why I cant.

But Jason isnt 16. He just thinks that way. He is actually 37 yet will always have the mind of a teen.

Thats because of adrenoleukodystrophy, or ALD, a brutal genetic disease that also has killed all sensation below his waist.

Doctors say he needs specialized care 24-7. He gets the care he needs at Washington Christian Village. But the center is trying to give him the boot, in what it calls an effort to help Jason.

His parents and doctors oppose the move. If they lose the fight, his parents fear what will become of Jason.

Hes lost everything in his life, his mom says.

***

Clark and Linda Smith sweat through their golden years.

The widower and widow wed 23 years ago. He's had surgery for lung cancer. She's had two pacemakers. In 2013, their Washington home was obliterated by a tornado.

But no challenge has been as hard as their fight regarding ALD. He is 80, she soon will turn 70.

I dont know how much more time we have to fight for Jason, Clark Smith says.

The struggles of ALD caught Hollywood's eye with 1992's Lorenzos Oil, which spotlighted two real-life parents seeking help for their afflicted son. According to the not-for-profit Stop ALD Foundation, the disease affects one in 18,000 people. It destroys myelin, the protective sheath around the brain's neurons, which allow people to think and to control muscles.

ALD is caused by a genetic abnormality in the X chromosome: its carried only by females. ALD symptoms in females are rare and mild. But in men, severe physical and brain deterioration can result, starting in childhood or beyond.

There are two treatments. Lorenzos oil combines fats from olive and rapeseed oils. In boys, it shows indications of staving off the onset of symptoms.

After a patient becomes symptomatic, the other treatment is a stem-cell transplant. Doctors believe the new cells share a missing ALD protein in the brain and halt brain damage.

ALD and other maladies haunt Jasons family, beyond his mom and stepdad. When Jason was 12, cancer took his dad. Just before that, Jason was tested for ALD, as his two brothers (older by nine and 12 years) had shown its traits. Each brother is married with a family. One still works; the other is disabled.

Jason seems to have gotten it the worst," his stepfather says.

For more than 20 years, Jason has been under the care of local doctors, plus ALD experts in Minnesota. Years back, a regimen of Lorenzo's oil possibly slowed his ALD. At age 24, Jason became a father, as well as sole caregiver for the boy, his parents say. Around that time, he began experiencing symptoms of ALD, including lesions on lower extremities. He gradually lost mobility in his legs, along with the ability to hold a job.

For years, he and his son lived in a trailer in East Peoria. But ALD started to degrade Jason's brain, and last year his Minnesota ALD experts advised a bone-marrow implant. The surgery was a success in ceasing further brain erosion.

But recovery was difficult, hampered by severe lesion infection. After rehab in Minnesota, he continued recovery at the home of his parents. But soon they realized they could not offer proper care. If he tumbles over, they have a hard time lifting him. With no sensation below the waist, he is unable to control his bladder or bowels, meaning he needs frequent cleaning. Meanwhile, lesions and infections are relentless and serious, with some near his spine, so he needs repeated wound care every day. Plus, he takes 25 medicines a day.

Last summer, that swirl of complications meant 10 trips to emergency rooms.

That summer was a nightmare, Clark Smith says.

***

If infection is kept in check, Jason could live a normal lifespan. But, doctors say, he always will need to be in long-term care, especially for wound care. The state has told Jason and his parents that his needs exceed the parameters of the cost and expectations of in-home aides, which his parents can't afford to cover themselves. Thus, he almost certainly will spend the rest of his life in a care facility.

He doesn't like that notion, regardless of medical logic. ALD has reduced his brain his thinking, his attitude to the mindset of a 16 year old, forever. Mood swings are teen-like: amiable one moment, vindictive the next.

He thinks he knows everything, his mom says. Everyone is wrong. The doctors dont know anything. Were ruining his life. Yada, yada, yada.

With legal guardianship over Jason, his parents in October took him to live at Washington Christian Village, walking distance from their home. They visit daily and often take him offsite for medical and social visits. Meanwhile, Jason's son (who has been staying with a family friend) visits regularly, as do Jasons pals. They sometimes bring by Jasons beloved dog, Wolfie, a 13-year-old Lab mutt.

Otherwise, Jason spends most of his time in his room, watching TV and texting friends just like many teens. Still, he is adamant about getting back home to the old trailer and his son.

During a visit by me, he didnt complain much about Washington Christian Village.

Its OK, he said with shrug. Theres a lot of old people. He admits to having trouble relating to seniors, joking sarcastically, I dont remember anything about World War II.

But to his parents, he always has protested living there. Sometimes he lashes out at his mom, blaming her for his predicament. But he doesnt berate other residents or otherwise cause problems.

Meanwhile, he has learned how to cause a ruckus with staff.

Weeks ago, hospital staffers talked to him about long-term needs, saying he would need lifelong, long-term care. He impulsively blurted, Id rather die. That prompted a notification to the administration, plus a ride to the emergency room.

Doctors quickly deemed him not a threat and sent him back to Washington Christian Village. But, a quick learner, Jason on two other occasions mentioned suicide, as a way to vent his frustration and provoke staff.

His stepfather says, He doesn't know how to express himself (appropriately). But hes learned that saying suicide gets attention.

It also got him an involuntary discharge. State and federal laws allow nursing-home discharges only for a handful of reasons, one of which was cited by Washington Christian Village: Your welfare and needs cannot be met by this facility. To his parents, staff said he needs mental-health counseling regarding possible suicide.

His parents replied to the administration by saying counseling cant repair Jasons brain: ALD has caused permanent damage, akin to dementia. Further, they have provided him off-site counseling, about every two weeks.

Moreover, letters from Jasons ALD experts say Jason isnt serious about suicide. Dr. Gerald Raymond, a renowned authority on ALD, as well as Jasons primary neurologist for more than 20 years, states, He is known to be brain-injured and impulsive and often makes irrational statements. But he has not been judged to be an active risk for suicide by multiple providers. These statements that he will self-harm do not justify the abandonment of care by the facility.

***

Right after issuing the discharge, Washington Christian Village assisted his parents in contacting more than three-dozen facilities within 35 miles of Washington. A few didnt respond. But the rest said they were full, had a long wait list or didnt meet Jasons needs.

Of possible note, the destitute Jason depends on Medicaid. The state has a massive backlog of Medicaid payments, some 18 months long, which can be tough on a providers bottom line. No law forces a facility to accept a patient.

Washington Christian Village found one welcoming place for Jason: Roseville Rehabilitation & Health Care. His parents toured the place and found it nice. However, Roseville does not have severe-wound care. And its lone psychiatrist visits just once every three months.

Plus, its 75 miles away. Jason essentially would be on his own, with rare visitors. And his Peoria medical providers would be too far away.

All that considered, his parents cant understand why Washington Christian Village would suggest Roseville. Nor can his ALD experts, including Dr. Raymond, who wrote about Jason: His care should be provided in a skilled nursing facility that is located close enough to his guardian but also allow access for his son and other family members to visit.

The discharge threatens to drop off Jason at his parents home. But the discharge is now in abeyance, as his parents have filed an appeal. Arguments by an attorney for Washington Christian Village and an attorney hired by Jasons parents will be offered March 2 before a hearing officer with the Illinois Department of Public Health, which oversees nursing homes. Days or weeks later, the officer will forward a recommendation to the agency director, who will issue a formal ruling.

Clark and Linda Smith have spoken and written to the facilitys corporate owner, Christian Horizons, which operates nursing homes in four states. Jake Bell, CEO for Christian Horizons, declined to comment for this story, citing patient confidentiality.

Beyond the appeal ruling, Jasons parents realize he likely will outlive them. Who will become his guardian? Who will look after his best interests?

Clark Smith sighs with the weight of all of his 80 years. Then says, We dont know. Were just trying to get past this emergency."

PHIL LUCIANO is a Journal Star columnist. He can be reached at pluciano@pjstar.com, facebook.com/philluciano and (309) 686-3155. Follow him on Twitter.com/LucianoPhil.

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Luciano: When nursing home says hit the road, what if you can't walk? - Peoria Journal Star

Blood Test Predicts Stem Cell Transplant Success in Myelodysplastic Syndrome – Oncology Nurse Advisor

Oncology Nurse Advisor

Blood Test Predicts Stem Cell Transplant Success in Myelodysplastic Syndrome Oncology Nurse Advisor A blood test and basic information about the medical status of patients with myelodysplastic syndrome (MDS) can predict stem cell transplant success and guide doctors to choose the most effective course of pretransplant therapy.1. Researchers from the ...

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Blood Test Predicts Stem Cell Transplant Success in Myelodysplastic Syndrome - Oncology Nurse Advisor

Connecting the Dots: Stem Cells Provide Valuable Tool for Linking Genes and Disease – Memorial Sloan Kettering Cancer Center (blog)

Summary

MSK researchers are using pluripotent stem cells to create models of disease in the pancreas, including diabetes and pancreatic cancer.

Highlights

The ability to isolate and grow pluripotent stem cells has offered many new opportunities for biological and medical research since the technique was first developed about 20 years ago. These cells are remarkable because they have the ability to develop into any type of cell in the body from liver cells to nerve cells to heart cells and more.

The field of regenerative medicine is based on the premise that doctors may eventually be able to engineer stem cells to replace tissues that have been lost due to injury or disease. Increasingly, pluripotent stem cells are also proving to be a valuable tool in the lab, especially for studying how genetic changes affect cell growth and division.

In a new study published February 9 in the journal Cell Stem Cell, a team of researchers led by Memorial Sloan Kettering developmental biologist Danwei Huangfu has demonstrated the value of using pluripotent stem cells to study how pancreatic cells form in a person. Their research has implications for the study of diabetes a disease characterized by dysfunction in certain types of pancreas cells as well as pancreatic cancer.

A gene-editing technology called CRISPR/Cas9 allows scientists to study the effects of specific molecular changes.

Many diseases have been difficult to recreate in animal models like mice, which makes it hard for us to study them, Dr. Huangfu says. Using pluripotent stem cells to create pancreas cells in a dish is teaching her lab members about the role certain genes play in pancreatic diseases and may lead to new kinds of treatments.

In the new study, the investigators looked at the function of a gene called GATA6 in pancreas cells. In humans, mutations in this gene can cause a range of medical problems that result from the inability of the pancreas to develop and function normally.

To study the gene, the team used a gene-editing technology called CRISPR/Cas9, which acts like a molecular scissors and enables researchers to make precise changes to DNA. Specifically, the MSK researchers used the technology to create pancreas cells that had only one copy of the GATA6 gene rather than the normal two copies, a state called haploinsufficiency. This situation is similar to what is seen in some forms of diabetes.

Our research illustrates the important contribution that human pluripotent stem cells can make in studying common but complex diseases.

Danwei Huangfu developmental biologist

Recreating these defective pancreas cells in a dish has already enabled the researchers to make new discoveries about GATA6 and its interaction with another gene called GATA4 in pancreatic defects, some of which they report in the Cell Stem Cell paper.

We believe this is the first study in human pluripotent stem cells to look beyond diseases caused by relatively rare single-gene mutations, Dr. Huangfu says. Our research illustrates the important contribution that human pluripotent stem cells can make in studying common but complex diseases characterized by multiple genetic factors as well as by potential environmental factors.

Dr. Huangfus lab is also using gene editing to study the formation of cancer in the pancreas. Because MSK sequences many of our patients tumors, we know a lot about the mutations that are present in cancer, she says. But we dont always know which ones are important.

In cancer, genetic changes in tumors are categorized as driver mutations errors that are important for the formation and growth of tumors or passenger mutations, which just go along for the ride.

Doing experiments with cancer genes inserted into these pancreas models helps us understand the cellular basis of the disease, and to separate the drivers from the passengers, Dr. Huangfu explains. Then we can work toward developing better diagnostic methods and treatments for cancer, based on knowing which mutations come first and which are the most important.

More:
Connecting the Dots: Stem Cells Provide Valuable Tool for Linking Genes and Disease - Memorial Sloan Kettering Cancer Center (blog)

Better Stem Cell Tx Outcomes for Younger MS Patients – Doctors Lounge

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Results support additional trials of autologous hematopoietic stem cell transplantation

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MONDAY, Feb. 20, 2017 (HealthDay News) -- Stem cell transplants may halt the progression of aggressive multiple sclerosis (MS) in nearly half of those with the disease, but selecting the right patients for the treatment is key, according to a study published online Feb. 20 in JAMA Neurology.

Riccardo Saccardi, M.D., from the cell therapy and transfusion medicine unit at Careggi University Hospital in Florence, Italy, and colleagues followed 281 patients with predominantly progressive forms of MS. The patients were from 13 countries and all had undergone autologous hematopoietic stem cell transplant between 1995 and 2006.

The researchers found that 46 percent of the patients experienced progression-free survival at five years after transplant. Younger patients with a relapsing form of MS who were not severely disabled and who hadn't found relief with other treatments fared better than others over five years. Within 100 days of transplant, eight patients died (2.8 percent). The researchers believe these deaths were most likely due to the transplant technology used before 2006, which has since improved.

"Stem cell transplantation cannot be considered a cure for MS," Saccardi told HealthDay. "However, it can be considered a concrete option for patients showing aggressive MS who have not responded to approved treatments."

More than one author disclosed financial ties to pharmaceutical and biotechnology companies, several of which contributed funding for the study.

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Better Stem Cell Tx Outcomes for Younger MS Patients - Doctors Lounge

Risky treatment can stop multiple sclerosis for years – BBC News

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Risky treatment can stop multiple sclerosis for years BBC News A multiple sclerosis treatment being tested in patients can stop the disease for at least five years, say doctors. The risky therapy involves wiping out the person's immune system with strong cancer drugs and then rebooting it with a stem cell ... Radical stem cell treatment for MS could stop the disease in its tracks for 5 years and even allow some sufferers to ...Daily Mail Stem Cell Transplants May Help Some With Multiple SclerosisDoctors Lounge Resetting the Immune System, A Risky Treatment But Proven Solution To Stop Multiple Sclerosis For 5 YearsScience Times Edition Time -iTech Post all 25 news articles »

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Risky treatment can stop multiple sclerosis for years - BBC News

Why the United States is no longer turning up its nose at Caribbean medical schools – STAT

M

ORENO VALLEY, Calif. Its easy to dismiss the for-profit medical schools that dot many a Caribbean island as scams, set up to woo unqualified students who rack up huge debts, drop out in staggering numbers, and if they make it to graduation end up with an all but worthless degree. Thats been the rap against them for years.

But the schools are determined to change that image. Many are quietly churning out doctors who are eager to work in poor, rural, and underserved communities. Their graduates embrace primary care and family practice, in part because theyre often shut out of training slots for more lucrative specialties.

And they just might help solve an urgent physician shortage in California and beyond.

The deans of two of the Caribbeans medical schools Ross University School of Medicine in Dominica and American University of the Caribbean in St. Maarten are on an aggressive campaign to improve their image. Theyve published a series of editorials and letterswith titles like Why malign overseas medical students? and hired public relations giant Edelman to make the case that their humble, hard-working, and compassionate students may be precisely the kinds of physicians America needs most.

Our students have persevered. They havent had all the opportunities in life and they still want to help people, said Dr. Heidi Chumley, dean of American University of the Caribbean School of Medicine. Absolutely we want to get our story out.

That story is unfolding on the ground in places like Moreno Valley, a city ofabout 200,000 in Californias Inland Empire, a former agricultural region just east of Los Angeles that grew explosively in the 80s but has since fallen on harder times.

Here, the Riverside University Health System Medical Centerrises from a stretch of largely undeveloped land once slated for luxury housing developments. The health system acts as the countys public safety net for an ethnically diverse, mostly low-income population including patients like retired carpenter Jos Luis Garcia.

On a recent clinic visit, Garcia, 69, came in to follow up on a urinary tract infection and his high blood sugar. He saw Dr. Moazzum Bajwa, 30, a second-year resident and graduate of Ross.

In a crisp white coat and bow tie, Bajwa entered the examining room and pulled up a low stool. Sitting eye to eye with Garcia, he spoke in a steady stream of fluent Spanish. The visit lasted nearly an hour.

In an attempt to keep his patient off insulin, Bajwa had asked Garcia to improve his diet and track blood sugar levels after meals. Nmeros fantsticos!, Bajwa exclaimed, looking at the folded sheet of carefully written numbers Garcia had brought to show him.

This is a very great doctor. Normally, I dont feel important.

Jos Luis Garcia, patient

Bajwa, a former middle school science teacher, then spent 10minutes drawing a careful diagram complete with neurons, intestinal walls, and red blood cells, orclulas rojas to explain to a rapt Garcia exactly why certain foods raised his blood sugar. He then examined Garcia noting he had a harmless but interesting muscle wall abnormality and checked his medical records. Was there a colonoscopy report on file? Retinal photos?

As the visit was ending, Bajwa asked Garcia about stress. Garcia said his wife had recently had surgery for glioblastoma multiforme, one of the most malignant of brain tumors. Wow, Bajwa said quietly as he quickly scanned the medical summary Garcia handed him. Wow. He sat down again on his low stool.

Lo siento mucho, seor, Bajwa said, clearly moved.

Then he gave Garcia a hug.

This is a very great doctor, Garcia said later, through a translator. Normally, I dont feel important.

Bajwa, an American citizen raised inMichigan and North Carolina, is the grandson of Pakistani Nobel physics laureate Abdus Salam and holds two advanced degrees, one in neuroanatomy and one in public health. But he couldnt get into an American medical school. So he attended Ross University in Dominica.

It was the only school that gave me an opportunity, he said.

There are some 70 medical schools throughout the Caribbean, most of them established in recent decades and run by for-profit businesses thatcater to Americans.

These so-called second chance schools accept students with poorer grades and lower MCAT scores, or sometimes no MCAT score at all. Compared to Americanmedical schools, their tuition and dropout rates are higher and their class sizes large: Ross enrolls more than 900 students per year.

Graduates can practice medicine in the United States after passing their Americanmedical licensing exams and completing a residency. But the schools have come under fire for generating a stream of students who dont end up as physicians, but do end up with crushing medical school debt because they flunk out or dont win residency spots after graduating.

Heartbreaking stories abound: One graduate of St. Georges University School of Medicine took a poor-paying job drawing blood to help pay off $400,000 in medical school loans. Another graduate of AUC entered nursing school after failing to get a residency.

Are Caribbean medical schools promising something they cannot fulfill? asked Dr. Glenn Tung, an associate dean at Brown Universitys Warren Alpert Medical School who has studied the schools. What Im concerned about is the cost to the students who dont make it and the cost to the American taxpayer when loans arent repaid.

Illinois Senator Richard Durbin, also concerned, has repeatedly introducedbipartisan legislation to strip the schools of Title IV federal funding for student loans. Three Caribbean medical schools Ross, AUC and St. Georges took in $450 million federal funding via student loans in 2012, Durbin said.

These for-profit Caribbean medical schools need to be accountable to their students and to U.S. taxpayers, he said in a statement.

Dean Chumley and Dr. Joseph Flaherty, the dean of Ross, take strong exception to such criticism.

They allow that many for-profit medical schools which have proliferated in the past few decadesbecause they are proven money makers arent doing a good job training and developing students. But they argue that AUC and Ross, two of the oldest Caribbean schools both owned by for-profit educational juggernaut DeVry Inc. are creating successful doctors.

They say they are also giving a shot to students with humble backgrounds, often minorities, who cant get near American medical schools that focus so heavily on test scores and grades.

Obviously brains help, but judgement, empathy, intuition, thats all part of it, Flaherty said. Our students are gung-ho. They want to practice medicine. Thats their dream.

Just 54 percent of American medical graduates who trained overseas are matched with a residency program for further training in their first year of eligibility. Thats an abysmal record, compared to the 94 percent of graduates of US schools who get residencies. But Ross and AUC say they have a match rates higher than 86 percent. And they say a vast majority of students pass their step 1 licensing exams on the first try.

Obviously brains help, but judgement, empathy, intuition, thats all part of it Our students are gung-ho.

Dr. Joseph Flaherty, dean of a Caribbean medical school

(Critics say the schools manipulate the statistics by dismissing weak students shortly before they are allowed to take the exams. Chumley said the schools do weed out poor students early on to prevent their accumulating debt, but in no way encourage poor students to stay for five semesters and then prevent them from taking the exam. I think thats ethically wrong, she said.)

The schools are also controversial because of their practice of buying their way into hospitals to train students. In 2012, Ross inked a contract beating out rival St. Georges University School of Medicine of Grenada to pay $35 million over a decadeto the cash strapped Kern Medical Center in Bakersfield in exchange for the lions share of the hospitals roughly 100 rotation spots for third-year medical students.

Some critics fear such deals will squeeze American-trained students out of rotations; disputes have flared in New York, where St. George paid $100 million for rotation spots, and in Texas, where lawmakers attempted to entirely ban Caribbean students from training in the state.

But Flaherty, Rosss dean, says the such deals are a win-win. A struggling hospital gets funds. His school, which has no teaching hospital, gets a place to train students. And he gets to show skeptical doctors how good his students really are.

The doctors get to know our students and say, These guys are good, he said. Our students get there early. They stay late and do extra work. They value any opportunity.

And they seize those opportunities where they can find them.

While their numbers are up, its still harder for international medical grads known as IMGs to get residency positions. Theyveheard all the jokes about studying anatomy on the beach with Mai Tais in hand. But when it comes to residency positions, they are deadly serious. For there is no practicing medicine without one.

You have to apply very widely. Theres always a stigma that IMGs dont get as good an education. said Rina Seerke-Teper, 31, a second-year resident who has wanted to be a doctor since she was six, graduated from the University of California at Berkeley and worked in stem cell research before attending AUC.

Many Caribbean graduates dont even apply to residency programs that are filled only with American trained students. Instead, they look for IMG friendly programs like the family practice residency here, run in a busy clinic housed within the county hospital. The program is highly competitive receiving about 800 applications for 12 positions each year and of the three dozen current residents, 29 studied in a medical school outside the US.

Competition for the coveted slots is likely to grow even more as California, which just got one newmedical schools and is slated to soon add another, starts spitting out more locally trained grads.

More doctors are desperately needed: California will need an estimated 8,000 additional primary care doctors by 2030. The United States as a whole is projected to need some 30,000 additional primary care physicians in coming decades.

Dr. Michelle Quiogue works in one of the areas hit hardest by the shortage rural Kern County. A graduate of a prestigious medical school at Brown University Quiogue says shes worked alongside many foreign-trained doctors and would never know what college they graduated from.

Inher mind, the problem is not a lack of medical students but a lack of residency programs to train them. The governor has proposedcutting $100 million for primary care residency training, and her organization, the California Academy of Family Physicians, is scrambling to get it replaced.

Medical school hasnt changed much in a century. Here are 5 ways to fix that

Those who do win residency spots say it seems to matter less and less where they went to school as they climb up the medical training ladder. And it seems to matter not at all in clinics where patients are grateful for any medical care they receive.

I have never heard a patient ask where a physician is trained, said Carly Barruga, a third year medical student at nearby Loma Linda University who said she is getting excellent training in her rotation here from Caribbean-trained doctors like Dr. Tavinder Singh.

Singh, 30, is chief resident here and also a graduate of Ross. While he traces his interest in medicine to the open heart surgery his grandmother had when he was a boy, Singh didnt apply to American medical schools because his MCATs werent as strong as they should have been. He didnt want to wait a year to retake them.

I had the goal in mind I was going to be a doctor, said Singh, a California native. Nothing was going to stop me. Hes loved his residency, especially the chance to work in needy communities where medical zebras unlikely and rare diagnoses can be common. You see chronic disease that have never been treated, he said. You see rare diseases like Zika.

While Singh was once the one begging for a chance, the tables have turned. In a state hungry for family practice physicians, hes now fielding numerous job offers.

Bajwas future is bright as well.

For now, though, hes just happy to be practicing medicine, thrilled to be delivering babies and focusing on preventative care. He loves helping patients like Wendy Ocampo, a 19-year-old with limb girdle muscular dystrophy. During an appointment this month, Ocampo came in to see Bajwa with respiratory symptoms.

New medical schools aim to fix Americas broken health care system

It was supposed to be a quick visit, but he ended up spending a half hour with her once he discovered bureaucratic hurdles had left her waiting seven months for the wheelchair she needs for her job and college. (Bajwa credits his clinic staff and nurses for working through lunch and juggling his schedule so he can offer longer visits.) Ocampo also hasnt been able to get the physical therapy she needs for her ankle.

It burns me up that these things are falling through the cracks, said Bajwa, after taking a few minutes to compliment Ocampos impressive new shoes and ask if she was growing out her hair.

Though sick, Ocampo beamed. Honestly, hes great, she said. He calls me to check on me. I have, like, 30 doctors and none of them have ever done that.

Correction: A previous version of this story misstated the population for Moreno Valley and the status of a proposed funding cut for residency training.

Usha Lee McFarling can be reached at usha.mcfarling@gmail.com Follow Usha Lee on Twitter @ushamcfarling

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Why the United States is no longer turning up its nose at Caribbean medical schools - STAT