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Pioneer Human Genome Project strives to find healing for sick sons

Editor's Note: Ryan Prior is a cross-platform associate producer with CNN. In 2007 he was diagnosed with a chronic fatigue syndrome and wrote about this experience here.

SAN FRANCISCO – Several times a day, Ron Davis sits with his head bowed, waiting in front of his son's bedroom for a subtle signal that it's okay to come in.

He opens the door to the room where Whitney spent most of the last decade.

Whitney lies motionless on a simple bed, shaving his head and emaciated his body. He is fed by a tube directly into the stomach. His lips have not spoken a word for five years.

Davis, 77, runs a lab that invented much of the technology driving the human genome project. Now, he and his wife spend most of their days caring for their 35-year-old son, who suffers from myalgic encephalomyelitis or chronic fatigue syndrome (ME / CFS).

Sunday is ME / CFS International Awareness Day. There is no cure. However, Davis is launching a global push to eradicate the molecular basis of what Whitney and millions of others around the world are devastating, so that scientists can better treat the disease.

What is ME / CFS?

Myalgic Encephalomyelitis / Chronic Fatigue Syndrome (ME / CFS) is a disabling and complex disease.

People with ME / CFS are often unable to perform their usual activities. Sometimes ME / CFS can confine her to bed. People with ME / CFS have an overwhelming tiredness that is not improved by rest. ME / CFS may get worse after any physical or mental activity. This symptom is known as post-exertional malaise (PEM). Other symptoms can be problems with sleep, thinking and concentrating, pain and dizziness. People with ME / CFS may not look sick.

  • However, people with ME / CFS can not function as they did before their illness.
  • ME / CFS changes people's ability to perform daily tasks such as showering or preparing meals. [1
    9659011] ME / CFS often makes it difficult to keep a job, go to school, and participate in family and social life.
  • ME / CFS can take years and sometimes leads to serious disabilities.
  • At least one of four ME / CFS patients are bedridden or housebound for a long time during their illness.
  • Everyone can get ME / CFS. While the disease most commonly occurs in people between 40 and 60 years old, it affects children, adolescents and adults of all ages. Women are more likely to be affected in adults than men. Whites are more diagnosed than other races and ethnic groups. But many people with ME / CFS have not been diagnosed, especially among minorities.

Source: CDC

Davis signals to his wife Janet Dafoe that Whitney is ready. She goes in and wipes her son's face. She pulls the blanket up to his head while he lies motionless.

She attaches an infusion bag to a pole that drips water into her son's veins.

Davis drops to his knees and takes off Whitney's socks. He cuts off the toenails of his son. He washes his son's feet.

It is a holy moment for the couple.

Davis led a revolution in science.

Davis and Dafoe celebrate their 50th wedding anniversary in July. Decades ago, they never predicted their current situation.

Now her everyday life is characterized by caring for her son. At least one of them has to be home every day to look after Whitney.

"My wife and I can not go away together," says Davis. They used to go to the beach every year, but more than seven years have passed since their last visit. With basically a single income, they struggle with finances.

"It has turned my life upside down in many ways. I've decided to end everything I worked on before Whitney got sick, "says Davis. "Now everything is ME / CFS. It's a kind of emergency effort.

Symptoms of ME / CFS

Primary Symptoms

Also referred to as "core symptoms", three primary symptoms are required for diagnosis:

  • Greatly reduced ability to perform activities that are common before the disease were. This decrease in activity is associated with fatigue and must last for six months or more. People with ME / CFS have fatigue that is very different from tiredness. The fatigue of ME / CFS:
  • can be severe.
  • is not the result of unusually heavy activity.
  • is not relieved by sleep or rest.
  • was no problem before she became ill (not life) -long).
  • Deterioration of ME / CFS symptoms after physical or mental activity that would not have caused a problem prior to illness. This is called post-exertional malaise (PEM). People with ME / CFS often refer to this experience as "crash," "relapse," or "collapse." During PEM, all ME / CFS symptoms may worsen or first appear, including thought disorder, sleep disturbances, sore throat and headache, dizziness or severe fatigue. It can take days, weeks, or more to recover from a crash. Sometimes patients are tied to the house during an accident or even completely tied to the bed. People with ME / CFS may not be able to predict what will cause a crash or how long it will last. For example, attending a school event for a child can result in someone being in the house for a few days and unable to complete the required tasks such as laundry.
  • Grocery shopping can lead to an accident requiring a nap in the car before you go home or drive home.
  • If you take a shower, someone with ME / CFS may be bedridden and can not do anything for days.
  • Keeping up with work can result in a recovery on evenings and weekends from the effort.
  • sleep problems. People with ME / CFS may not feel better or less tired after a long night. Some people with ME / CFS may have trouble falling asleep or falling asleep.

In addition to these core symptoms, one of the following two symptoms is required for diagnosis:

  • Problems with thinking and memory. Most people with ME / CFS have problems thinking fast, remembering things, and paying attention to details. Patients often claim to have "brain fog" to describe this problem because they feel "caught in the fog" and can not think clearly.
    Deterioration of symptoms when standing or sitting. This is called orthostatic intolerance.
  • People with ME / CFS may be dizzy, dizzy, weak, or weak while standing or sitting. You may have blurred vision or blurred vision.

Source: CDC

The couple spent their careers in and around Stanford University. Davis worked for decades in the Department of Biochemistry and Genetics at the school, while the only 70-year-old Dafoe works as a child psychologist. She has cut her working time to about five hours a week to take care of her son.

Following his PhD at Caltech, Davis completed his postdoctoral studies at Harvard, where he studied with Nobel laureate Jim Watson of "Watson and Crick," who was immortalized in textbooks for the Joint Discovery of the Double-helix Structure of DNA (1953).

Davis joined Stanford's Department of Biochemistry in 1972 as an adjunct professor and quickly made a name for himself.

He was co-author of one of these articles created a map with a new method for linking genes with the traits they caused, which became a cornerstone of genome research. It prompted Davis and his colleagues to write a "proposal for a map of the entire human genome." The National Institutes of Health rejected her in 1979 and said her plan was too ambitious.

Davis continued his innovations and eventually garnered more than 30 patents for technology he developed.

Eventually the world caught up with his vision. The $ 3.8 billion human genome project began in 1990 with Davis' gene sequencing technologies as its core. It was completed in 2003 and ushered in a revolution in science. The transfer of researchers, who laid the foundation for human life, provided an unprecedented opportunity for biologists and physicians to diagnose, treat, and ultimately prevent the full range of human diseases.

Davis was shortlisted by The Atlantic along with SpaceX founder Elon Jeff Bezos, founder of Musk and Amazon, will be considered one of tomorrow's historians of today's greatest inventors.

The same forward-thinking mind that devised the Human Genome Project now dedicates days to what Davis calls "the last great disease to vanquish".

He may need all his brilliance to save his son.

Then his son fell ill and his priorities changed.

Davis and Dafoe raised their two children in a quiet neighborhood in Palo Alto. Each year, they migrated as a family in the mountains of the California Sierra and disappeared for weeks.

"I carried Whitney up there when he was young," says Davis. On one of these trips, five-year-old Whitney impressed his father by running nine miles in a single day. On another Sierras trip, her little daughter Ashley took her first steps at 5,000 feet above sea level.

"I have not been away for 10 years," says Davis. "I'd like to do that again with Whitney."

In 2008, Whitney was 24 years old and lived in a small Nevada town when he knocked on Sen's door. Barack Obama's presidential campaign.

But he often complained about being exhausted. Whitney, a seasoned photographer, took pictures at Obama's inauguration in 2009, but even then, he could not work for a full day.

After years of worsening health, visiting numerous doctors, and receiving no answers, Whitney was eventually diagnosed with ME / CFS.

When his health deteriorated, he moved in May 2011 to his parents. He kept trying to work as a wedding photographer, but soon gave up, as it took him a week to recover from filming a single wedding. Soon he was mostly bedridden.

In his last post on his photo site, Whitney complained that the "chronic fatigue syndrome" could not meet his condition. He preferred the "Total Body Shutdown".

Whitney has lost the ability to speak – something that makes only a very small part of the experience of ME / CFS patients. Dafoe says he used to communicate with family via text messaging, but that ability is now lost as well, even lighting a smartphone is too stimulating for him. The heart emojis he sent to his caregivers are just memories.

After all, he could not eat solid food anymore.

In one of his last texts to his parents, he wrote: "I am sorry that I'm ruining your golden years.

To find a cure, Davis recruited a dream team of researchers.

During his life at the frontiers of science Davis has worked with many experienced researchers. He benefits from these relationships by building a first-class team that he hopes will find the molecular basis for ME / CFS.

"I was on the phone and everyone I called said yes," says Davis.

Among the telephone receivers were two Nobel Prize winners: Paul Berg, who won the chemistry prize in 1980, and Mario R. Capecchi, who won him in the category of "Physiology or Medicine" in 2007.

Some of his colleagues had never heard of the disease. He told them that 1% of the population was affected, or about one in three hundred Americans. He told them that the National Institutes of Health were providing less than $ 6 million a year to research the disease at this time.

This is a challenge in tackling a disease that has no FDA-approved treatment, the cause of which is unknown or unknown. A unique laboratory test for clinicians to diagnose. ME / CFS is lagging behind in the biomedical imagination compared to cousins ​​like multiple sclerosis, which also affects the immune system and the nervous system.

Following outbreaks in the 1980s, some were referred to as chronic fatigue syndrome, the "yuppie flu". "

But his symptoms, which include constant fatigue, pain, brain fog, and refreshing sleep, can be as damaging as late-stage cancers." In the shower, a person with ME / CFS may be bedridden for days and unable to do anything.

In 2017, NIH doubled its research expenditures for the disease to $ 12 million, but Davis argues that this is far from sufficient in comparison to other diseases of similar severity and similar prevalence Multiple Sclerosis, a disease of which Fewer patients than ME / CFS are affected are being funded by NIH-funded research to the tune of over $ 100 million per year.

Davis now regularly convenes top scientists through an advisory board, through the Open Medicine Foundation, a nonprofit organization Based in California, which has raised $ 18 million to research the disease At the center is Davis' Stanford Genome Technology Center, which makes Davis unique among living scientists in its ability to coordinate the discovery of a cure.

But to achieve the kind of progress that he and his colleagues envision, they need a lot more money.

They make slow but steady progress.

ME / CFS patients fall into the same spectrum as patients with multiple sclerosis and other diseases. Some may still go to work and work while others are bedridden for 23 or more hours a day.

At research conferences, Davis sometimes sits and talks for hours with ME / CFS patients.

"I'm very sympathetic to her," he says. "I feel like I have to solve it, but not in an arrogant way. All I know is that I have to put every ounce of energy into this treatment to help all the patients, including my son. "

Davis and Dafoe know that their son's weakened body has a living spirit. Whitney is a devout Buddhist, and her house is littered with prayer flags. Dafoe thinks Whitney spends a lot of his day meditating.

When Whitney's younger sister Ashley married, Dafoe pointed to the ring on her finger to pantomime the happy news for her son. The two siblings were very close. Whitney did not speak, but held his hands over his heart and wept with joy.

Whitney's blood samples flow around many in sequencers in Davis' lab, adding to what his organization considers to be the deepest study of ME / CFS patients have ever tried.

This would not be the first time that Davis has targeted a problem that the scientific establishment has found unsolvable. "You have to look for it," he says.

He and his team have worked hard over the last few years. One of her inventions, a "nanoneedle" for testing blood, argues for the need to find a single biomarker in the patient's blood.

A blood test that identifies a specific molecular abnormality that occurs only in ME / CFS patients has a long history of researchers seeking to promote the disease. Such a process could drive drug development as pharmaceutical companies would understand the cause of what is wrong with patients.

The Davis team has tested its nanoclip with initial success and has recently published the findings in a journal. They found that the blood of ME / CFS patients reacted differently to the initiation of "stress" – in this case salt – than the blood of healthy people. Davis hopes the device will eventually produce a cheap clinical test that will allow doctors to quickly and accurately identify ME / CFS.

He also wants to investigate measures to prevent the disease. For example, he wants to understand why people with mononucleosis often develop ME / CFS.

These are just a few of the things Davis & # 39; team works on.

"We do not have enough money, so we have to prioritize it," he says.

Davis flew to Washington for a symposium on ME / CFS in early April. He almost did not make the trip because it would leave his wife alone at home and take care of Whitney while she was suffering from the flu.

But she told him he had to leave.

Grooming Whitney is a daily ritual. [19659022] Davis and Dafoe sometimes wait for hours in front of Whitney's room and see through a keyhole if he has taken a position in bed, indicating that it is okay to enter. With words that are no longer an option, they must interpret Whitney's attitude and occasional hand signals.

Six times a day they carry out this ritual, silently, dutifully, shut off from the gaze of the world.

They start around 2:30 pm and join Whitney IV first. The next time they enter his room, they plug in the pump for the "J tube," which carries the nutrients directly into her son's stomach.

On the third visit, they wash and clean the small plastic containers next to Whitney's bed that he uses as urinals. Next, they come back to put Whitney's urinals on his stomach when he's ready to use them again. On their last visit, often around 2:30 pm, they put Whitney's ice cream on his stomach to relieve his excruciating indigestion.

"I feel like living in another world, it's hard to say when people ask, 'How are you?'" Says Dafoe. "Our world has just been hit by a chronic illness . "

There is a disciplined intention behind her movements, for Whitney the slightest deviation in her process can be devastating.

" His cognitive processes are not working properly, "says Dafoe, as she and her husband wear plain shirts with no lettering. when they are in Whitney's room, because the energy beam his brain needs to process a word can cause it to crash, and they even use tape to stick labels to neosporin tubes.

Cause such falls Whitney has severe stomach pains that make it impossible for them to put more food into his feeding tube.

Dafoe wants her husband to get enough sleep to stay fresh and focus on the Erfors focus on the disease. This means that she helps Whitney on many evenings until 5 or 6 am.

She returns to take care of her son.

They hope that the suffering of their son can have a greater meaning.

"I have a doctorate. That was hard, "says Dafoe. "I climbed mountains, it was hard."

But she says enduring Whitney's illness is the hardest thing she has done in her life, "by a factor of thousands."

A simple truth guides you. "He's my son, I just love him."

Dafoe receives news from ME / CFS patients around the world who say they are inspired by her husband and are alarmed by her son's severe condition. She says she feels like a mother to these people, many of whom are suicidal – a rational response to a life they have spent directly above death.

Many say Whitney is their North Star. They say that if he can live through hell year after year, his suffering must be bearable.

"He saves lives," says Dafoe. "Only by lying."

Almost all communication between her and her husband with Whitney is through pantomime gestures. If he wants more of something, he holds his hands together, then take them apart.

But every now and then the fog rises a bit and Davis and Dafoe can loudly talk to Whitney more complex ideas. A few months ago, they told him how prominent his father was in the field of disease research.

"He was very excited about it," says Dafoe.

Whitney slammed the air like a boxer, signaling that he intends to keep fighting.

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