Feeds:
Posts
Comments

Archive for the ‘Uncategorized’ Category

NEUROLOGICAL DISEASES vs. THE CALIFORNIA STEM CELL AGENCY: Disease-a-week challenge #16

By Don C. Reed

First, a seeming digression from the subject of chronic illness.

In my youth, I worked as an aquarium diver for Marine World Africa USA in Redwood City, California. Five days a week, I would swim down into the tanks full of wildlife, spending time with sharks, dolphins, eels, seals and other creatures of the sea.

<a href=”http://images.huffingtonpost.com/2015-09-04-1441361328-5031677-notesUWzoo.jpg”><img alt=”2015-09-04-1441361328-5031677-notesUWzoo.jpg” src=”http://images.huffingtonpost.com/2015-09-04-1441361328-5031677-notesUWzoo-thumb.jpg&#8221; width=”333″ height=”499″ /></a>

The most beautiful tank was a million-gallon tropical fish display, with giant groupers big as cars and tiny cleaner fish that swam in and out of their mouths, and angelfish, surgeonfish, damselfish, wrasses, and more in this man-made reef.

But then one day, the fish began to die. One by one I carried them out, these fish I knew as individuals. Their colors faded, and they died. After three weeks, the tank was almost empty. We turned off the heaters and changed to a cold sea collection of local fish.

We never knew what killed that underwater neighborhood. But what if there had been one single solution, to save the lives of many?

There was. And in later years, I saw it happen.

Hold that thought.

Now. Consider neurodegenerative (nerve-destroying) diseases, such as Parkinson’s, Huntington’s, Alzheimer’s and ALS (Lou Gehrig’s disease). All incurable.

What if they had a common weakness: might a single medication defeat them all?

If you go to the California stem cell agency web page, http://www.cirm.ca.gov, and look up the project of <a href=”https://www.cirm.ca.gov/our-progress/awards/common-molecular-mechanisms-neurodegenerative-diseases-using-patient-based-ipsc&#8221; target=”_hplink”>Steven Finkbeiner</a> of the Gladstone Institutes, you will find an amazing possibility.

First, the problem.

“A major medical problem… is the growing population of individuals with neurodegenerative diseases, including Parkinson’s and Huntington’s…These diseases affect millions of people, sometimes during the prime of their lives, and lead to total incapacitation and…death.”

Millions of people, incurably ill, with no expectation but suffering and death? That is about as grim as you can get!

But in the next sentence of his grant proposal:

“We propose to conduct…studies to understand the basic common disease mechanisms of neurodegenerative disorders… to develop effective treatments for these diseases…”

“common disease mechanisms… develop effective treatments…”

I called up Dr. Finkbeiner at the Gladstone Institutes and found that the idea of hunting for similarities was a deeply held conviction. He called it “Identifying common threads”, and shared an unpublished article, which asked:

“What if we could find shared pathways that trigger neurological diseases…couldn’t we make a difference?”

Finkbeiner proposes a stem cell technique to find those commonalities.

He would take skin cells from sick people and turn them into the kind of nerve cell the diseases attack. He would start with Parkinson’s and Huntington’s, and make a cellular model of the affected cell–(striatal for Huntington’s, dopaminergic for Parkinson’s) and then try a bunch of drugs on them.

If a drug was found that affected both diseases, it might be easy to put it into public use. If it was already approved by the FDA, they could skip the long years of testing and development–saving hundreds of millions of dollars–and potentially making the therapy more affordable.

“The goal of our study is to identify common mechanisms that cause the degeneration of neurons and lead to most neurodegenerative disorders…we have made good progress in both developing…novel compounds and identifying potential genetic targets that could lead to… therapeutic strategies for patients with Huntington’s and Parkinson’s disease”.

<a href=”http://images.huffingtonpost.com/2015-09-04-1441361533-8510431-finkbeiner220.jpg”><img alt=”2015-09-04-1441361533-8510431-finkbeiner220.jpg” src=”http://images.huffingtonpost.com/2015-09-04-1441361533-8510431-finkbeiner220-thumb.jpg&#8221; width=”200″ height=”272″ /></a>

One medication to defeat both Huntington’s and Parkinson’s and maybe other conditions like ALS (Lou Gehrig’s disease), Alzheimer’s and more?

Could that be possible?

Back to the fish tank.

Having seen the horrors of a mass fish kill once, I was naturally not anxious to witness it again, and became worried when I saw a kelp bass flopping on the bottom of the tank, thrashing around in what was surely pain.

I knew that fish. It had a growth in its throat. When I tried to feed it, it flexed its gill covers to suck the food in–but the blockage would not let the bit of cut-up herring pass. It thumped its head against the floor.

And then, the cure the ocean has for all disease swirled in.

A shark.

The brown and black-spotted sevengill circled, touching the bass, as if by accident. When it did not dart away, as a healthy fish would have done, the shark picked it up, and tapped its teeth on the fish’s back. Anything? But the protective spines did not stand up. The kelp bass actually seemed to relax, as if glad its suffering was over. One abrupt shake of the shark’s head, and the fish was two and food.

The disease (if disease it was) had not been allowed to spread. In nature’s elegant simplicity, the shark did not catch the illness.

Why not? Is there some super-strong immunity gene that protects the shark? I have no idea.

And might there be a gene or medication that could block the progression of neurological disease among suffering people?

The California stem cell agency wants to find out.

The answer could benefit millions.

Don C. Reed is the author of the forthcoming book, STEM CELL BATTLES: Proposition 71 and Beyond: How Ordinary People Can Fight Back Against the Crushing Burden of Chronic Disease.

http://www.worldscientific.com/worldscibooks/10.1142/9255.html.

Read Full Post »

MULTIPLE SCLEROSIS vs: CALIFORNIA STEM CELL AGENCY: Disease-a-week Challenge #15

By Don C. Reed

“He was born with the gift of laughter, and the sense that the world was mad.” Rafael Sabatini

That opening line (from the novel SCARAMOUCHE) would seem to have been written for the comedic genius Richard Pryor. His life was almost unutterably tragic, with every form of cruelty and sadness inflicted on him: raised in a brothel, sexually and physically abused as a child, expelled from school, imprisoned, emotionally terrified of even standing on a stage and performing.

And yet, he made the world laugh. Google some videos of him performing, and I defy you not to get a stomach ache from laughing. Caution: don’t listen to him if you have a low threshold for profanity, because he uses curse words like others use punctuation. But funny? Watch him act out the time he stepped into the ring with Muhammed Ali—I watched it twice preparing for this article, and tears ran down my face both times.

A very different kind of performer was Annette Funicello, one of the stars of Walt Disney’s original MICKEY MOUSE CLUB, and a series of lighthearted Summer movies like BEACH PARTY. Discovered while dancing the role of the Swan Queen in Tschaikowski’s SWAN LAKE at the age of seven, Annette’s smile could warm a room.

Like most of America, I watched transfixed when “Mickey” was on, hugging my knees in front of our neighbor’s 7” screen, lasting out each moment of the show as long as I could. Annette was special; in my secret heart I really felt she was my friend; that smiling person I had never met.

Both were superstars, reaching the peak of the entertainment world; beloved by millions of fans.

But then for each the symptoms began.

Fatigue, at first, just simple-seeming tiredness, surely nothing a good night’s rest could not take care of? But then the limbs would tremble suddenly, spasming, or freezing into paralysis.

Worse was to come.

“Blurred or double vision…thinking problems…loss of balance…weakness…bladder problems…”

http://www.webmd.com/multiple-sclerosis/guide/multiple-sclerosis-symptoms

While making a movie sequel with Frankie Avalon, RETURN TO BIKINI BEACH, she appeared to be having trouble with her balance. Rumors spread that the problem might be alcohol, which was not true.

In 1992, Ms. Funicello revealed to the world that she had multiple sclerosis. She wanted to help others with the disease, to encourage research, and if going public about the condition would help, she would do it. She even established a research fund, the Annette Funicello Fund for Neurological Disorders at the California Community Foundation.

Her husband Glen Holt was a fine man, who loved her every inch of the way. But the quality of her life went down and down, until a wheelchair was the only practical answer. Annette who had once been a dancer now had to be carried.

The life span of a person with MS is not appreciably shortened: both stars lived full lives. Richard Pryor died at 65, Annette passed away at 70.

Although some of the symptoms of MS can be eased by medication, the root cause has not been dealt with— until now.

MS has to do with the insulation (called myelin) around a human nerve.

Imagine a rat, chewing on a plastic-wrapped electrical cord. What happens when it bites through? A short circuit. The rodent is fried, maybe the house burns down. At very least, the electricity cannot do its job. Flick the switch all you want, but no current can get through; the lights cannot go on.

Similarly, if the insulation around a nerve is destroyed, it short-circuits the body’s natural electricity. It distorts the messages between brain, spine and body, resulting in numbness, pain—or paralysis.

But what if new myelin could be put in place, re-insulating the nerves?

In Southern California, an effort to do that is underway. With a California stem cell agency grant, Principal Investigators Craig Walsh at the University of California at Irvine, and Jeanne Loring of Scripps Research Institute are tackling the disease with co-PI Claude Bernard at Monash Institute, Australia. (Note: All California funding must be spent in our home state. But when a scientist in another state or nation can bring his or her own funding, as Dr. Bernard is doing, that means more bang to the buck.) Dr. Thomas Lane of the University of Utah was also a huge part of the project, “vital to our efforts,” said Dr. Walsh.

Here is a short video of Dr. Loring, giving the “elevator pitch” on how to fight MS.

https://www.cirm.ca.gov/our-progress/video/jeanne-loring-scripps-cirm-stem-cell-sciencepitch-multiple-sclerosis

The mice in the experiment were paralyzed by a virus, in much the way MS works.

Then, the therapy: “…neural precursor cells (NPC) were derived from the human embryonic stem cell line H9. (The paralyzed mice then received) “… transplantation of these NPC cells, which resulted in significant clinical recovery, beginning at 2-3 weeks following transplant.”

https://www.cirm.ca.gov/public-web-disease-focus/multiple-sclerosis

Paralyzed mice became un-paralyzed.

And here is something fascinating. “Despite this striking recovery, these…(cells) were rapidly rejected.”

The transplanted cells were rejected– but the improvements remained. This could be great news indeed, and it might apply to other diseases as well.

Consider. One of the problems of transplanting new organs is rejection: the body thinks the transplant is an enemy, and fights it. The doctors have to shut down the immune system, putting the patient on special medication for long periods of time, maybe for life. This puts the person at risk: a common cold could have deadly consequences.

But if the cells which brought cure were rejected by the body, but the cure remained—there might be no need for long-term anti-immune medications.

Another surprise: as Dr. Walsh points out, “the work has provided ‘value added’ benefits….challenging our notion that our immune system is simply there to eliminate the pathogens. Instead…our immune cells can also activate regeneration once the pathogenic threat has been immobilized… there is much exciting work to be done.”—personal communication, Craig Walsh

How long will it be before people with MS get well? No way to know.

But there is funding for the research. Because California voters said YES to Proposition 71, the Stem Cells for Research and Cures Act, we have a chance to defeat Multiple Sclerosis.

When that day comes—and may it be soon– let us toast the memory of Richard Pryor and Annette Funicello, who made the world smile.

Read Full Post »

Huff Post runs article on HiV/AIDS

If you want to see the California stem cell research agency in action against HIV/AIDS, visit: http://www.huffingtonpost.com/don-c-reed/fighting-the-thief-of-liv_b_8001826.html

Please tweet and/or retweet it.

Thanks!

Don C. Reed

Read Full Post »

WONDER WOMEN AT WORK: the California Stem Cell Agency vs. Huntington’s:  Disease-a-week Challenge #14

By Don C. Reed

In 1941, the DC Comics character Wonder Woman was born. Created by psychologist and inventor William Moulton Marston, Wonder Woman became the world’s first comic book super heroine, and a positive role model for millions. The picture attached is drawn from artwork for the upcoming movie, BATMAN vs. SUPERMAN, which reportedly will feature Wonder Woman.

https://en.wikipedia.org/wiki/Wonder_Woman

In the fields of medical research and patient advocacy, modern-day “wonder women” are not hard to find.

But the evils they face are not comic at all.

“Huntington’s disease is a devastating degenerative brain disease…that inevitably leads to death. It has a 50% chance of being inherited by the children of the parents. Symptoms …include uncontrolled movements, difficulties in …holding down a job, and severe psychiatric manifestations.

“Current treatments do not change the course of the disease…”

https://www.cirm.ca.gov/our-progress/awards/hesc-based-development-candidate-huntingtons-disease

In 1989, Hector Portillo was struck down and killed by a car. He was crossing a street, awkwardly; one of the symptoms of Huntington’s disease is chorea, an uncontrollable dance-like motion contorting the limbs.

His mind had also been affected by the disease.

“When the father of my children became symptomatic with Huntington’s, the man we knew disappeared… what was left was a mere semblance of the loving person we adored.  My children, Margie, Michael and Marie, loved their father but became afraid of him, not knowing when he was going to react violently.”—Frances D. Saldana, personal communication.

Worse was to come: HD symptoms began to show in two of Saldana’s children: Marie and Margie; son Michael did not seem to have the condition.

Although she had no medical background, Ms. Saldana chose to fight back.

But how? In 1995, “there was really nothing available in Orange County, California for Huntington’s disease (HD) families,” she said in a personal interview.

She got a job at the University of California at Irvine, (UCI) a top-flight center for studying HD. She worked there all day at her regular job, and used her spare time to contact anyone who might help in the fight.

Among the scientists she met was neuroscientist Dr. Leslie Thompson.

A twenty-five year veteran of the battle against Huntington’s, Dr. Thompson had been part of the worldwide effort to find the cause of the disease. She worked with a team of scientists and clinicians under the leadership of the great Dr. Nancy Wexler, whose mother died of the disease, and whose family started the influential Hereditary Disease Foundation.

Wexler’s team went to South America to work on a scientific mystery—there was an unusual number of families afflicted by Huntington’s around Lake Maracaibo in Venezuela—why? Could the researchers find families to determine the genetic cause of the disease? Were there environmental or dietary contributions? What caused the disease?

It took twenty years to find out:  4,000 blood samples, and interviews and documentation from 18,000 individuals. But they found the connection: a gene.

“The samples that team collected allowed a global collaborative research group to locate the gene that causes the disease…”

https://en.wikipedia.org/wiki/Nancy_Wexlerhttps://en.wikipedia.org/wiki/Nancy_Wexler

But even the most spectacular discoveries depend on funding; without it, there can be no research, no cures, no hope.

Philanthropic groups like the Huntington’s Disease Foundation and the Huntington’s Disease Society of America, as well as the National Institutes of Health and the California stem cell agency, raised funds at crucial moments.  Frances and  her friend Linda Pimental, whose family also suffered from Huntington’s,  “co-founded HD CARE to raise awareness and funds for UC Irvine research and clinical care…”

http://news.uci.edu/features/ucimpact-stem-cell-research/

In grants large and small, the funding came in, and the research continued.

But not fast enough. Marie and Margie, Frances’s daughters, both died of the disease. But she still had hopes for her son.

And then, on the day when widowed Frances was to marry again, when she and her new husband were actually in the church and walking down the aisle—son Michael tripped and fell, revealing the symptoms. Today, he is institutionalized.

With so many blows, it would have been natural for Frances to just give up.

But she would not quit. She is still raising funds for science to defeat this miserable disease, so others would not have to go through what her family endured.

And her friend Dr. Leslie Thompson?

I looked up Dr. Thompson’s grants at the California stem cell program. One was labeled “An  hESC (human embryonic stem cell)-based Development Candidate for Huntington’s Disease”. It was funded at $4,045,253. Four million dollars… but what was its status? Had it failed, was it closed? A split-second crisis.  I held my breath, located its status, and read—ACTIVE.

From the abstract, “Human embryonic stem cells (hESCs) offer a possible long-term treatment approach that could relieve the tremendous suffering experienced by patients and their families.

“The team (turned)  hESCs into (nerve) precursors to be used for transplantation… They (are determining) the correct cells to use…. The cell giving the greatest protective benefit will be transplanted into mice (to pave the way) for human use…”

https://www.cirm.ca.gov/our-progress/awards/hesc-based-development-candidate-huntingtons-disease

“Everything has to work down to the smallest detail,” said Dr. Thompson later,  “At first, we did not even know which cells to work with…It took years to figure out. Much of what we now know is thanks to the incredible body of knowledge brought about by CIRM.”

What happens next? What are the prospects for cure?

“We continue the mouse work. If that goes well, then we talk to the FDA about human trials.

“There is tremendous hope at the research level.  We are understanding much more about what makes the toxic protein accumulate in HD brain cells and how we might reduce it.  The work on stem cells – both to study the disease and for the transplants–  is showing great promise.”

—Leslie Thompson, personal communication.

If you visit Dr. Leslie Thompson’s office today, on her desk you will see a framed picture of the Saldaña family, a silent reminder of why the fight goes on.

“Frances is a tireless promoter of HD research and care and her enthusiasm is infectious,” Dr. Leslie Thompson told UCI News, “Her impact is profound.”

http://news.uci.edu/features/a-cause-close-to-her-heart/

If I had my way, on each of their desks would be a sign, reading:

CAUTION: WONDER WOMEN AT WORK!

Don C. Reed is the author of the forthcoming book,  STEM CELL BATTLES: Proposition 71 and Beyond: How Ordinary People can Fight Back Against Chronic Disease, from World Scientific Publishing, Inc.

Read Full Post »

HIV/AIDS vs. THE CALIFORNIA STEM CELL AGENCY: Disease-a-week Challenge # 13

So little attention is paid to HIV/AIDS nowadays, one might be forgiven for thinking it cured. But is it?

To date, only one (1) person has been cured of HIV-AIDS.

One million Americans have HIV/AIDS today—as do more than thirty million world citizens—many of them children, who caught the disease from their mothers’ breast milk.

https://www.aids.gov/hiv-aids-basics/hiv-aids-101/global-statistics/

They are not cured.

It might be said that HIV/AIDS is controllable now, for those with the resources to pay for it.

A therapy called ART (Anti-Retroviral Therapy) can  keep HIV patients alive. As long as the 30-40 pills are taken every day, in the right order and at the right time, HIV (Human Immunodeficiency Virus) is survivable.

But without the pills, (and they are not cheap) HIV advances to the death sentence of AIDS (Acquired Immunodeficiency Syndrome).   HIV can be lived with; AIDS cannot.

The disease is only managed, not cured. Even the remedy itself carries major risks. People on long-term ART may face cancer, heart and lung disease, osteoporosis, and other life-threatening maladies.

And the one cured person, Timothy Ray Brown, better known as the “Berlin patient”?

https://en.wikipedia.org/wiki/The_Berlin_Patient

Residing in Berlin, Germany, Tim Brown had both leukemia and HIV, which latter he was managing by the ART pills. But to save him from dying of leukemia, Brown was given a bone marrow transplant—from a person immune to HIV.

Apparently, as many as one percent of  Northern Europeans are blessed with a mutation that prevents HIV from entering their cells and infecting them. (This might be an immunity passed down from survivors of Europe’s Black Plague.)

http://genetics.thetech.org/original_news/news13

Tim Brown overcame both leukemia and HIV-AIDS.

But his experience will not work for everyone. A bone marrow transplant operation is painful, dangerous, and depends on finding a suitable “match” for the donation.

But might there be a way to make a person immune to HIV?

Enter the California stem cell agency. Begun by the citizen’s initiative, Proposition 71, the California Institute for Regenerative Medicine (CIRM) gives grants to fight  all forms of “incurable” disease.

–www.cirm.ca.gov

Two teams of California stem cell researchers were selected to take on the challenge of HIV-AIDS: they would try to make changes in the stem cells of the blood, so what cured the Berlin patient might be done again across the world.

Team One is Calimmune, Inc., a company begun by David Baltimore, Nobel Prize winner and former board member of the California stem cell board of directors. That team is led by Ronald Mitsuyasu, MD, of the University of California at  Los Angeles, and Jacob P. Lalezari, MD, of Quest Clinical Research in San Francisco.

Team Two is comprised of John Zaia, David DiGiusto, Amrita Krishnan,  and Paula Cannon from the Beckman Research Institute of City of Hope, and the University of Southern California in partnership with Sangamo Biosciences, Inc..

These teams face a battlefield of microscopic complexity: the gene chain of our lives.

Complicated? Wow! Hearing them talk is like reading a bowl of alphabet soup.

Look at the following “word”: CCR5.

CCR5 is a gene, part of our DNA structure, the blueprint of our lives. But CCR5 is not always our friend. It  sometimes lets HIV into our bodies, like a door for assassins, who may enter and kill.

But what if the gene had a change, or a mutation—delta 32 (^32)—added to it?  The door now locks.  The HIV virus has no way to enter.

CCR5—bad, CCR5^32—good.

Tim Brown was given a bone marrow transplant from a person who had the CCR5^32 injected into his body; Tim Brown was cured.

Would it be possible to put delta 32 into the gene structure and permanently lock the CCR5 “door”?  Or could that door be removed altogether, by snipping out CCR5 from the DNA chain?

That is the hope of scientists funded by the California stem cell agency.

Let’s meet someone from that battlefield:  Dr. Paula Cannon from the University of Southern California (USC). Dr. Cannon is the president of the Keck School of Medicine Faculty Council.

http://uscmmi.com/paulacannonlab/?page_id=13

When I asked Dr. Cannon why she had chosen her career, she seemed a little  embarrassed, saying she had chosen biology “almost at random” in college. She had done well, earning a degree in microbiology, but after graduation she “did a 180-degree career spin” and went into the music business in Liverpool, home of the Beatles. She did not like it, she said, but it shaped her future.

HIV-AIDS was ravaging the entertainment industry; people were dying with no hope from this modern day plague.

Time passed;  another 180-degree career spin, and Paula Cannon was back in the science business again, but this time with a goal—to fight the “thief of lives” as a medical researcher.

As Dr. Cannon can talk science in “people-talk”, I asked for answers to three key questions:

  1. The CIRM grant involves something called a zinc finger nuclease (ZFN); what is that, and why is it important?

“A zinc finger nuclease is a sort of genetic scissors. It can snip out bad stuff in the body’s DNA chain. We hope to program ZFNs to snip out CCR5, so it won’t let the AIDS virus in again.”

  1. Same question for ribonucleic acid (RNA)—what is it, why does it matter?

“If DNA is like a thousand-page blueprint for a house, RNA might be considered one page—maybe for the upstairs bathroom. RNA may bring very specific and permanent changes in the body’s structure, by transporting the ZFN where you want it to go.”

  1. How important was the California stem cell program to you as a scientist?

“The CIRM grant made it possible for me to fight against AIDS within a stem cell team structure; without CIRM, this would not have happened.”—Paula Cannon, personal communication.

California is challenging the thief of lives: this virus called AIDS.

The battle is not won.

But it is surely joined.

Read Full Post »

Huffington Post picked this article about the most terrible condition of all– please share it on all social media.

http://www.huffingtonpost.com/don-c-reed/epidermolysis-bullosa-vs-_b_7985244.html

Thanks!

Read Full Post »

EPIDERMOLYSIS BULLOSA vs. THE CALIFORNIA STEM CELL PROGRAM: Disease-a-week Challenge # 12

By Don C. Reed

Try this. Take your right index finger and run it  roughly across your left forearm. Nothing happens, right?  You see the skin ripple, but it springs back like before.

But if you had a skin condition called Epidermolysis Bullosa ( EB), even that small touch could leave a blister, and soon break apart, exposing raw flesh.

When you first meet John Hudson Dilgen, (in the video “Boy with Butterfly Skin”,)   he is wearing what appear to be white sweats. He is smiling and talking, a beautiful regular little boy, the kind who would be running around like crazy at the school playground, and last to come in from recess.

It takes a moment to realize the “white sweats” are bandages, which have to be changed every day.

https://www.youtube.com/watch?v=oM5Am04eIIE

The title “Butterfly skin” comes from the idea that EB skin is fragile as a butterfly’s wing, and that is not far off.

In a healthy child’s body, the layers of skin stick together by the body’s natural glue: collagen.  In John’s type of EB, the collagen gene is missing or insufficient, and the outer layer (epidermis) can easily break away.

Any friction, however slight, can create a painful wound. When John was born, he had no skin on his feet from the trauma of child birth.

“Bathtime”, said his mother, was “heartbreaking, with relentless fear and screaming…”

He loved potato chips, but a rough or sharp food can be deadly for a child with EB, doing damage to the esophagus. Imagine being afraid to hug your child too hard, lest you break their skin!

Today John Hudson Delgin is 13, but the disease is still with him.  If he rubs his eyes, the corneal erosion may require him to spend several days in a completely dark room.

EB is a rare condition, sometimes called an “orphan disease”.  This is a good news/bad news situation:  we want it rare, because no child should have to suffer such continual pain—but it also means the number of patients wanting cure may be too few to attract corporate money.

As a colleague put it:  “Some worry that even if a cure were to be developed, revenues from the therapeutic product would be insufficient to justify the corporation’s initial investment—based on limited demand.” Mary Bass, Americans for Cures Foundation— personal communication.

Yet there are very practical reasons to support “orphan disease” research. Other conditions may be very similar: improvements for one may help another.

“There are over 200 genetic skin diseases that could in principle be treated with this approach. Similar therapeutic reprogramming studies are being developed for other tissues like heart, brain, pancreas, liver and cornea.  The ‘road plowed with skin’ can make the manufacturing and regulatory tracks much easier for subsequent therapies.” – Anthony Oro, Stanford, personal communication.

EB is rare, but skin diseases are very common, affecting as many as 2% of the population. There is also the huge problem of wound healing, which affects millions every day.  Finally, cancer research might benefit. EB sufferers often die of a deadly cancer called squamous cell carcinoma. Studying the skin of an EB patient may determine the trigger-point of many kinds of cancer– potentially benefiting millions.

And—“It might be worth mentioning that treating rare diseases is the first step toward achieving…(the) personalized medicine that the Obama Administration has highlighted as a priority.”—Julia Jenkins, Executive Director, EveryLife  Foundation for Rare Diseases, personal communication.

Stanford University is heavily invested in this effort, with a superb dermatology lab.

http://dermatology.stanford.edu/faculty/

Let’s focus on just three of Stanford’s outstanding scientists, who received an  $11 million grant from the California stem cell program.

They are: Alfred Lane, Primary Investigator (PI), an expert at FDA regulatory affairs and former Director of the EB clinic at Stanford;  Co-PI’s on the project were:  Marius Wernig, stem cell reprogramming authority, who once came to a formal science event wearing a tuxedo and tennis shoes; and Anthony Oro, a skin genetics and development expert, who not only attempt the impossible with the invisible in science, but can also explain it in people-talk.

Their weapon to take on EB? Induced Pluripotent Stem cells (iPS), that micro-manipulation of skin cells which won Shinya Yamanaka the Nobel prize.

Here is my layman’s understanding of what they must do.

  1. Take a tiny skin sample from the patient;
  1. Using the iPS process, make personalized stem cells from the patient: “regressing” the cells back to an embryonic-like state;
  1. Correct the defective genes;
  1. Do quality control on the corrected iPS lines to remove those with unwanted pre-existing genetic changes;
  1. Make new cells (with the corrected genes);
  1. Make the healthy new skin and graft it onto the patient’s wounds.

Grafting improved human skin cells onto the backs of lab mice, the initial steps have completed.

Now new funding must be raised to “translate” this breakthrough science from theory to therapy: so that good skin can be traded for bad—healing patients.

Will it work? And if so, when?

“Stanford…will soon move forward with an expanded patient study… We are hopefully years, not decades, away from meaningful therapies and potential cures.”  –Jessica Schneer,  Epidermolysis Bullosa Research Partnership Executive Director, personal communication.

Help us fight. Bumped elbows and skinned knees of children should be minor inconveniences, nothing more– and epidermolysis bullosa should be remembered only because it is a hard word to pronounce.

Consider sending a couple bucks to:    https://ebresearch.org/donate/

Don C. Reed is the author of the forthcoming book STEM CELL BATTLES, available for pre-order at Amazon.com.

http://www.worldscientific.com/worldscibooks/10.1142/9255.html.

Read Full Post »

Older Posts »

Follow

Get every new post delivered to your Inbox.

Join 900 other followers