By Don C. Reed, author, “CALIFORNIA’S WAR ON CHRONIC DISEASE
“Chronic diseases are defined… as conditions that last 1 year or more… they are the leading causes of death and disability in the United States… (as well as the) leading drivers of the nation’s $3.8 trillion in annual health care costs.” (1)
Every chronic disease is cruel; an illness that lasts “a year or more” — or which may never go away at all?
But some are worse than others; they attack children.
Alysson Muotri is a cheerful scientist with a Brazilian accent. When you talk to him, even on the telephone, you will enjoy the conversation. He always seems to be smiling.
He is also extraordinarily talented, “on the cutting edge of science”, according to Rusty Gage, who persuaded Dr. Muotri to relocate from Brazil to San Diego. (2)
Recently he became involved in the effort against COVID-19, and doubtless made a strong contribution. But in my humble opinion, I hope he will not stay there.
A flood of scientists and doctors are already fighting the pandemic, and with appropriate levels of funding. That is right and proper.
But Dr. Muotri’s son has autism.
I first became aware of that condition when my son Roman and I were in Southern California in 1994, at a rehab center, fighting his paralysis.
A frantic pounding on the apartment’s front door got my attention. A frazzled-looking woman said:
“Tomorrow morning at ten, you will hear screaming from our backyard. Do not call the police, nobody is being abused. It is just my son has autism.”
Then she ran off.
I thought no more about it, until next morning, when the screams began.
In the back yard next door, a little boy, all by himself, was calmly sitting in a sandbox, playing with a neatly-arranged row of toy trucks — and screaming…
In the years since, I have met half a dozen families with an autistic member, and while every one of their lives is different, none was made easy by the condition. One young adult liked to leap on top of his mother while she was asleep. He liked to do that when he was little, but now he was almost a full-grown man.
Each of these parents worries about who will look after their disabled child, after they are gone. One woman was reportedly in such emotional anguish when she could not find a program to help her son that she killed him, and then herself. (3)
Dr. Muotri’s son Ivan is non-verbal, and his communication (based on a video I saw of the family) seems limited to facial expressions. He is a beautiful child, seeming confident in his parents’ love. But still there are social, mental and physical problems — and he is non-verbal…he cannot speak.
Ivan now has seizures: ten to fifteen every day.
Perhaps one in a hundred children have some form of autism, including Rett Syndrome, Angleman’s, Asperger’s, and others.
Can we cure them? Not yet. We cannot even come close, while one obstacle is in the way.
There is no accurate model of a human brain on which a scientist can experiment. We cannot say to a person, “Excuse me, can we open your skull, and dig around in your brain for a while?”
Fortunately, there may be an alternative.
Imagine a little robot, shaped like a metal spider. It is cute, non-threatening, and it walks, (not too well), occasionally bumping into walls.
It is controlled (again, not too well yet) by a patch of cells in a dish of salt water, which is itself influenced by a computer. The patch of cells is called an organoid. It is almost invisibly small, and has been called a “mini-brain”.
This robot-organoid-computer connection is by no means a human being: not even close. It is a speck of tissue, not a person, no more than a dot of cheese is a pizza.
But it may be a step in the direction of cure.
When Dr. Muotri coordinates messages between computer, organoid, and robot, he is modeling the brain-nerve-body connection. The cells in salt water can be experimented on, to see what makes them work, and what does not.
This ingenious tool may help find a cure, not only for autism, but for many diseases of the brain and nervous system.
Dr. Muotri is a hard-working scientist, no question. But he also has a flair for color, as when he sent organoids to outer space, to test them in zero gravity.
And he has studied the DNA of Neanderthals, our cave-dwelling ancestors.
But in the patient advocate community, I suspect he will always be remembered for something small: a tooth.
First, the problem. How do you take a tissue sample from a person who cannot be touched? Some autistic folks cannot bear to have someone hold them, even gently — let alone poke a needle into their arm, to remove a piece of flesh.
But as we all know, leaving a tooth under the pillow brings the tooth fairy… so the kid feels his tooth is loose, he wiggles it out, leaves it in the proper place, in exchange for a dime or a dollar or stocks and bonds — and that was how Dr. Muotri got all the tissue samples he needed…
In the lab, Muotri is using the brain model to learn how nerve networks from autistic folks are formed. The communication between cells with autistic genomes is different from those of healthy individuals.
If the autism is caused by a (mutating) gene, Muotri may use enzymes to fix the mutation, or insert a correct copy of the gene. In some cases, the genetic information is not enough, and he must screen the organoids to search for (new drug) treatments. This approach has already paid off: he has been able to find novel treatments for rare syndromes. (4)
He has the creativity and drive. If left alone politically, and provided with adequate and reliable funding, Alysson Muotri may find a cure for autism.
He — and his son — are why we fight: one of the many human reasons why the California stem cell program must go on.
1. https://www.cdc.gov/chronicdisease/about/index.htm
2. — “Autism researcher Alysson Muotri’s audacious plans for brain organoids”, by Hannah Furfaro, 12 August 2019
4. –Alyssoun Muotri, personal communication