L17 : Respiration in human beings - Life Processes, Science, Class 10
Paleo, vegan, intermittent fasting: So now you can see clearly the peaks. Everybody, when the Genome project was being born, was consciously aware of their role in history. But of course I have to worry that somebody owns this space. You see the patent guidelines are very unclear.
Now, does that mean—I just want to make sure if I understand this right. Does that mean when you look through those things that all the Cs and the As and the Ts and the Ts and the Gs The gene sequence is almost identical. There are some genes, like ubiquitin, that's 97percent identical between humans and yeast, even after a billion years of evolution.
Well, yeah, but you've got to understand that deep down we are very much partaking of that same bag of tricks that evolution's been using to make organisms all over this planet. It seems incredible but all this information about evolution, about our relationship to each other and to all living things, it's all right here in this monotonous stream of letters. And as the Human Genome Project progressed and hit high gear the pace of discovery quickened. Once they got fully automated, it wasn't long before Lander and Collins and all the other public project teams had reason to celebrate.
I'm Francis Collins, the director of the National Human Genome Research Institute and we're happy to be here together to have a party today. By November of , they had reached a major milestone. In a five-way awards ceremony, hooked up by satellite, the major university teams announced they had finished a billion base pairs of DNA, a third of the total genome. Have we got everybody? I would like to propose a toast. A billion base pairs, all on the public Internet, available to anybody in the world.
It's an incredible achievement. It hasn't been completely painless. And because I know everybody in this room is living and breathing and thinking every single moment in the day, about how to make all this happen, how we can hit full scale I want to be sure you realize what a remarkable thing we pulled off. I hope you also know that this is history. Whatever else you do in your lives, you're part of history. We're part of an amazing effort on the part of the world to produce this. And this isn't going to be like the moon, where we just visit occasionally.
This is going to be something that every student, every doctor uses every day in the next century and the century after that. It's something to tell your kids about. Something to tell your grandkids about. It's something you should all be tremendously proud of. And I'm tremendously proud of you. A toast to this remarkable group, to the work we've done, to the work ahead.
Everybody here is hoping the Genome Project will help cure disease, and the sooner it's done, the better for all of us.
But there's something more than idealism, more than even pride that's driving this race to finish the genome. And that is the knowledge that with every day that passes more and more pieces of our genome are being turned into private property by way of the US Patent Office. The office is inundated with requests for patents for every imaginable invention, from Star Wars action figures, to jet engines. And here along with all those gizmos, are requests for patents for human genes, things that exist naturally in every one of us.
How is this possible? We regard genes as a patentable subject matter as we regard almost any chemical. We have issued patents on a number of compounds, a number of compositions that are found in the human body. For example the gene that encodes for insulin has been patented.
And that now is used to make almost all of the insulin that is made so people's lives are being saved today. Diabetics' lives are better. As a matter of fact if we ruled out every chemical that is found in the human body, there would be an awful lot of inventions that would not be able to be protected. Generally, to patent an invention, you've got to prove that it's new and useful. But a few years ago, critics said the patent office wasn't being tough enough. So applicants would say, "Well, here's a brand new sequence of As, Cs, Ts and Gs right out of our machines.
What were they going to be used for? The sort of thing that people used to do then was they would say, "It could be used as a probe to detect itself. I mean, it's like saying, "I could use this new protein as packing peanuts to stuff in a box.
It takes up space. You see the patent guidelines are very unclear. I don't object to giving somebody that limited-time monopoly when they've really invented a cure for a disease, some really important therapy. I do object to giving a monopoly when somebody has simply described a couple hundred letters of a gene, has no idea what use you could have in medicine.
Because what's going to happen is you've given away that precious monopoly to somebody who's done a little bit of work. And then the people who want to come along and do a lot of work, to turn it into a therapy, well they've got to go pay the person who already owns it. I think it's a bad deal for society.
It takes at least two years for the patent office to process a single application, so right now, there are about 20, genetic patents waiting for approval. All of them are in limbo.
This can cause problems for drug companies who are trying to work with genes to cure disease. I'm a company trying to do work on this, this, and this rung of the ladder because I think I can maybe develop a cure for cancer right here, just for the sake of argument. But of course I have to worry that somebody owns this space.
You have to worry a lot that this region here, that you're working on, that might cure cancer has already been patented by somebody else and that patent filing is not public. And so you're living with the shadow that all of your work may go for naught. Because one day the phone rings and says "Sorry you can't work here.
Get off my territory. And the problem here is And therefore, I think work doesn't get done because of the confusion over who owns stuff. Supporters of patents say they're a crucial incentive for drug companies. Drug research is phenomenally expensive, but if a company can monopolize a big discovery with a patent, it can make hundreds of millions of dollars. Every scientist who does research is now being looked upon as a generator of wealth, even if that person is not interested in it. If they sequence some DNA, that could be patentable material.
So whether the scientist likes it or not, he or she becomes an entrepreneur just by virtue of doing science. Craig Venter is first a scientist, but he has made the leap from academia into the business world. Let me talk about the business of this. Do you consider yourself a businessman? In fact I still sort of bristle at the term for some reason.
But my philosophy is we would not get medical breakthroughs in this country at all if it wasn't done in a business setting. We would not have new therapies if we didn't have a biotech and pharmaceutical industry.
I think I bristle at it because it's used as an attack, used as a criticism. In this case, if the science is not spectacular, if the medicine is not spectacular, there will be no profits. Venter was given three hundred million dollars to set up Celera, and his investors are expecting something in return. But how can they profit from the genome?
At the moment, the company is banking on pure computer power. This is Celera's Master Control. Twenty-four hours a day, technicians monitor all the company's major operations, including the hundreds of sequencers that are constantly decoding our genes. And they oversee Celera's main source of income, a massive Website where, for a fee, you can explore several genomes, including those of fruit flies, mice and of course, humans.
What all this adds up to is something like a big browser, a user-friendly interface between you and your genes. Our business is to sell products that enable research. That's essentially what we do. So we're used to selling the picks and the shovels to the miners. Tools to interpret the human genome and other related species are merely more products along the same genre. They just happen to be less tangible than a machine. So Celera's business plan is to gather information from all kinds of creatures, put it together and sell their findings to drug companies or universities or whomever.
But it's the selling part, selling scientific information, that makes some scientists very uncomfortable. This is a big change in the ethos of the scientific community, which is supposedly The fundamental idea that when you learn something, you publish it immediately, you share it with others.
Science grows by this communitarian interest of shared knowledge. I think, "Why doesn't Pfizer give away their drugs? They could help a lot more people if they didn't charge for them. Tony White has absolutely no problem with making money from the human genome. I hope we have a legal monopoly on the information. I hope our product is so good, and so valuable to people, that they feel that it's necessary to come through us to get it.
Anybody who wants to can build all the tools that we're going to build. Whether or not they will choose to is a different matter.
Now which is the better business to be in, do you think, the landlord business, or this, "You subscribe, and I'll give you some information about anything you want," business? They're lousy businesses by comparison with the real business. Actually make molecules that cure people.
But if there is one thing that the Human Genome Project has taught us, it's that finding cures is a whole lot harder than simply reading letters of DNA. Take, for example, the case of little Riley Demanche. At two months, Riley appears to be a perfectly healthy baby boy. When Riley was just 13 days old, Kathy Demanche got the call that every parent dreads. My pediatrician called on a Thursday evening and he said, "I need to talk to you about the baby.
And he said, "Are you holding the baby? And he said, "The tests came through, and Riley tested positive to cystic fibrosis. As Kathy and her husband would soon learn, cystic fibrosis, CF for short, attacks several organs of the body, but especially the lungs. Its victims suffer from chronic respiratory infections. Half of all CF patients die before the age of I think we can be hopeful that their child will grow up to have a normal and healthy, happy and long life.
But at the present time, I don't have any guarantees about that. Someone had asked me, "Are you prepared to bury your son at such a young age? Whether it's four or forty? And I said, "I've had him for 17 days. I wouldn't trade those 17 days. Medical researchers say they have discovered the gene which is responsible for cystic fibrosis, the most common inherited fatal disease in this country. Francis Collins, now head of the government's Genome Project, led one of the teams that discovered the CF gene.
We still have not seen this disease cured or even particularly benefited by all of this wonderful molecular biology. CF is still treated pretty much the way it was 10 years ago. But that is going to change. The original hope was that babies like Riley could be cured by gene therapy, medicine that could provide a good working copy of a broken gene.
But attempts at gene therapy have hardly ever worked. They remain highly controversial. So if there's going to be an effective treatment for Riley, instead of fixing his genes, we're going to take a look—and this is new territory—at his proteins. When you look at yourself in the mirror, you don't see DNA.
You don't see RNA. You see proteins and the result of protein action. So that's what we are physically composed of. So it's not a Rogers and Hammerstein thing, where one guy does the tune and the other guy does the lyrics. This is a case where the genes create the proteins and the proteins create us? We are the accumulation of our proteins and protein activities. A protein starts out as a long chain of different chemicals, amino acids.
But unlike genes, proteins won't work in a straight line. Genes are effectively one-dimensional. If you write down the sequence of A, C, G, and T, that's kind of what you need to know about that gene. But proteins are three-dimensional. They have to be because we're three-dimensional and we're made of those proteins.
Otherwise, we'd all sort of be linear, unimaginably weird creatures. Here's part of a protein. Think of them as tangles of ribbon.
They come in any number of different shapes. They can look like this. The varieties are endless. But when it's created, every protein is told, "Here is your shape. And that's how they recognize each other when they hook up and do business. In the protein world, your shape is your destiny. They have needs and reasons to want to be snuggled up against each other in a particular way. And actually a particular amino acid sequence will almost always fold in a precise way. Should I think origami-like?
I mean, should I think folding and then It's very elegant, very complicated. And we still do not have the ability to precisely predict how that's going to work. But obviously it does work. Except, of course, if something does go wrong. And that's what happened to baby Riley.
Riley has an tiny error in his DNA. Just three letters out of three billion are missing. But because of that error, he has a faulty gene. And that faulty gene creates a faulty, or misshapen protein. And just the slightest little changes in shape and boom. The consequences are huge.
Because it is now misshapen, and a key protein that is found in lung cells, in fact in many cells, can't do its job. This is the lining, or the membrane, of a lung cell and here is how the protein is supposed to work. The top of your screen is the outside of a cell; the bottom of the screen, the inside of the cell, of course. And our healthy protein is providing a kind of chute so that salt can enter and leave the cell. Those little green bubbles, that's salt.
And as you see here, the salt is getting through. But if the protein is not the right shape, then it's not allowed into the membrane. It can't do it's job. And without that protein, as you see here, salt gets trapped inside the cell. And that triggers a whole chain of reactions that makes the cell surface sticky and covered with thick mucus. That mucus has to be dislodged physically. Riley's family is learning to loosen the mucus that may develop in his lungs, and fight infections with antibiotics.
But what the doctors and the scientists would love to do is, if they can't fix baby Riley's genes, then maybe there's some way to treat Riley's misshapen protein and restore the original shape. Because if you could just get them shaped right, the proteins should become instantly recognizable to other proteins and get back to business. But look at these things. How would we ever learn to properly fold wildly, multi-dimensional proteins? It may be doable, but it won't be easy.
The genome project was a piece of cake compared to most other things, because genetic information is linear. It goes in a simple line up and down the chromosome. Once you start talking about the three-dimensional shapes into which protein chains can fold and how they can stick to each other in many different ways to do things, or the ways in which cells can interact, like wiring up in your brain, you're not in a one-dimensional problem anymore.
You're not in Kansas anymore. And as scientists head into the world of proteins, they're looking very closely at patients like Tony Ramos. Tony has cystic fibrosis, but it's not the typical case. CF almost always develops in early childhood. Tony didn't have any symptoms until she was I started having a cough. And then we kept thinking I was catching a lot of colds. And my stepmother thought, "That's not right. Tuberculosis, walking pneumonia, you know, test after test.
At the time of her diagnosis, Tony's family was told she might not survive beyond her twenty-first birthday. She is now in her mid-forties, but her CF is worsening. Two or three times a year, she does have to be admitted to the hospital to clean out her lungs. They were always doing some little funky study to help the cause because we're not the normal I know that they don't know why. And it's the big question mark. And hopefully, research will keep going to figure it out.
Tony was born with a mistake in the same gene as baby Riley, and yet, for some reason, when Tony was a baby she didn't get sick. And now that she is sick, she hasn't died. What does Tony have that the other CF patients don't have? No gene acts in isolation. It is always acting as a part of a larger picture. And there can therefore be other genes which compensate. Could it be that Tony has some other genetic mutations, good mutations that are producing good proteins that kept her healthy for 15 years?
That are keeping her alive right now? In my opinion there are genes that are allowing her to have a more beneficial course, if you will, than another patient. Gerard is searching for the special ingredient in Tony. If it turns out she has one or two good proteins that are helping her, maybe we could bottle them and use them to help all CF patients like baby Riley. No one can predict Riley's future, or to what extent CF will affect his life.
But now that we're getting the map of our genes, we'll be able to take the next big step. I get the sense that everybody is getting out of the gene business and suddenly going into this new business I hear about, called the protein business. There's even a new name, instead of genome, I'm hearing this other name Well, the genome is the collection of all your genes and DNA.
The proteome is the collection of all your proteins. See, what's happening is we're realizing that if we wanted to understand life, we had to start systematically at the bottom and get all the building blocks. The first building blocks are the DNA letters.
From them we can infer the genes. From the genes, we can infer the protein products that they make that do all the work of your cell. Then we've got to understand what each of those proteins does, what its shape is, how they interact with each other, and how they make kind of circuits and connections with each other. So in some sense, this is just the beginning of a very comprehensive, systematic program to understand all the components and how they all connect with each other.
All the components and how they connect? But how many components are there? How many genes and how many proteins do we have? The real shock about the genome sequence was that we have so many fewer genes than we've been teaching our students. The official textbook answer is, "The human has , genes. The only problem is it's not true. Turns out we only have 30, or so genes. Not everybody agrees with this number but that's about as many as a mouse! Even a fruit fly has 14, genes.
That's really bothersome to many people, that we only have about twice as many genes as a fruit fly, because we really like to think of ourselves as a lot more than twice as complex.
I certainly like to think of myself that way. And so it raises two questions. Are we really more complex? You show me the fruit fly that can compose like Mozart, and then I'll obviously I suppose we do. But as it happens, we have lots of genes that are virtually identical in us and fruit flies. But happily, our genes seem to do more. So, let's say that I am a fruit fly. One of my fruit fly genes may make one and two slightly different proteins.
But now I'm a human, and the very same gene in me might make one, two, three, four different proteins. And then these four proteins could combine and build even bigger and more proteins. Turns out that the gene makes a message, but the message can be spliced up in different ways.
And so a gene might make three proteins or four proteins, and then that protein can get modified. There could be other proteins that stick some phosphate group on it, or two phosphate groups. And in fact all of these modifications to the proteins could make them function differently. So, while you might only have, say 30, genes, you could have , distinct proteins.
And when you're done putting all the different modifications on them, there might be a million of them. So, starting with the same raw ingredients, the fruit fly goes, "hm, phht, hm, phht, hm, phht," but the human, by somehow or other being able to arrange all the parts in many different ways, can produce melodies perhaps. Although we're not that good at hearing the melodies yet.
But it's not that easy to just read the sheet music there and hear the symphony that's coming out of it. Okay, so it's not just the number of genes, it's all the different proteins they can make and then the way those proteins interact.
And to figure out all those interactions and how they affect health and disease, that's going to keep scientists very busy for the next few decades. But of course, before the research can begin in earnest, they first have to complete the parts list—all the genes.
And by the spring of , both sides—the public labs and Celera—they were in hyperdrive—each camp madly trying to be the first to reach the finish line and get all three billion letters.
The pace of things and the magnitude of things was really incredible. I mean, I would remember coming in and just having this really gripping feeling in my gut, I mean just an intense kind of, "Oh, my God.
Am I up to this? You know, whoever has this reference sequence of the Human Genome out there in the world first, they're going to be famous. They're going to be on the front page of the New York Times and a lot more than that, for a long time. They're going to be, you know, celebrities. And you know, when that's going on, it's not unreasonable that people are going to reach for that star and try to get there before the other person.
I thought the really intense competition in this world was among businesses where there was a profit motive. I now find that we are pikers in the business world, compared to the academic competition that exists out there. And I'm beginning to understand why. Because their currency is publication. Their currency is attribution.
And their next funding comes from their last victory. I think we're all better off for the fact that there is this competition. What you want is a system that gets people riled up and trying to do something faster, better and cheaper than the next guy. The environment at Celera was really intense, and it reminded me of finals week at Cal Tech. And there's a tradition at Cal Tech that on the very first day of finals week, The Ride of the Valkyries is played at full blast.
And so, I thought, "Well, since every week feels like it's finals week here, why don't I play The Ride, and see what happens. Since we're Nordic Valkyrians. And the next week, we're shooting each other.
And we go, "You know, there's something not right about this. Unbeknownst to us, they had been preparing themselves. They had little beanie hats. Then the war started. It's just a release. It's a way of kind of dealing with the pressure, I think. We all ran around like crazy for five or ten minutes, and got a little physical exercise, and had a few laughs. And then we're ready to really go after it. Output at Celera continues at a relentless pace. Venter insists that the urgency stems not only from a desire to beat the government project, but the firm belief that what's coming out of these machines—all the As, Cs, Ts, and Gs—will have a profound impact on all our lives.
It's a new beginning in science and until we get all that data, that can't really take place. Anybody that has cancer, anybody that has a family member with a serious disease In the past, if you wanted to explain diabetes, you always had to scratch your head and say, "Well, it might be something else we've never seen before. In the past, finding the genes that cause a disease was a painstakingly slow process. But with the completion of a list, it should be much easier to make a direct connection from disease to gene.
Well, let's say I'm looking for a gene that causes something How would I go about that? So here are three bald guys and take their blood and look at their DNA. Now, I'll take three guys with lots of hair, and here's their DNA. And what if the bald guys all share a particular spelling right here, in this spot, which we call the bald spot.
And at the same spot, you notice the hairy guys have So is this the gene that causes baldness? Maybe, but probably not. This could be a coincidence. So, how do I improve my chances of finding the specific spelling difference that relates to baldness? It would help if I knew that the bald guys and the hairy guys had really similar DNA, except for the genes I suspect may make them either bald or hairy.
Where do I find guys who are very, very similar, with a few exceptions? If there were brothers and fathers and sons and cousins, for instance, who share lots of genes.
So let's say these three guys are brothers—astonishing similarity really in the face. But notice that one of them is hairy and two are bald. Whatever is making this one different should stand out when you compare their genes. And the same for these guys. There's a difference, clearly, in the photos, but that difference may turn up in the genes.
You could do the same thing for any disease you like. So, if I could comb through the DNA of lots of people who are related, and I find some of them are sick and some of them are healthy, I might have a much better chance of figuring out which genes are involved.
But where do I do this? Well, one place is a little island nation in the North Atlantic, Iceland. In many ways, Iceland is the perfect place to look for genes that cause diseases.
It's got a tiny population, only about , people, and virtually all of them are descended from the original settlers—Vikings who came here over years ago.
If you drive around this country you will have great difficulty finding any evidence of the dynamic culture that was here for almost years. There are no great buildings.
There are no monuments. But one thing Iceland does have is a fantastic written history, including almost everybody's family tree. And now it's all in a giant database. Just punch in a social security number and there they are, all your ancestors, right back to the original Viking. So what we have here is my ancestor tree. I'm here at the bottom. This is my father and mother, my grandparents,great grandparents, and so on.
We can find an individual that was one of the original settlers of Iceland. Here we have Ketill Bjarnarson, called Ketill Flatnefur, meaning he had a flat nose, so he may have broken it in a fight or something.
And we estimate that he was born around the year Kari Stefansson is a Harvard-trained scientist who saw the potential gold mine that might be hidden in Iceland's genetic history. He set up a company called deCODE Genetics to combine age-old family trees with state-of-the-art DNA analysis and computer technology, and systematically hunt down the genes that cause disease.
Our idea was to try to bring together as much data on health care as possible, as much data on genetics as possible, and the genealogy, and simply use the informatics tools to help us to discover new knowledge, discover new ways to diagnose, treat and prevent diseases. One of deCODE's first projects was to look for the genes that might cause osteoarthritis. Regnheidir Magnusdottir had the debilitating disease most of her life. The first symptoms appeared when I was And by the age of 14, my knees hurt very badly.
No one really paid any attention. That's just the way it was. But by the age of 39, I'd had enough, so I went to a doctor. Magnusdottir was never alone in her suffering.
She's one of 17 children. Eleven of them were so stricken with arthritis, they had to have their hips replaced. This was exactly the kind of family that deCode was looking for. Magnusdottir and other members of her family to donate blood samples for DNA analysis. And to find more of her relatives, people she'd never met, deCode just entered her social security number into their giant data base, and there they were.
But which of these people have arthritis? To find out, Stefansson asked the government of Iceland to give his company exclusive access to the entire country's medical records.
And in exchange, deCode would pay a million dollars a year plus a share of any profits. This idea was probably more debated than any other issue in the history of the Republic. On the eve of the Parliamentary vote on the bill there was an opinion poll taken which showed that 75 percent of those that took a stand on the issue supported the passage of the bill; 25 percent were against it.
Among that 25percent against the plan were most of Iceland's doctors. I felt there was something fundamentally wrong in all of this, you know?
They do know everything about you, not only about your medical history, about your medical past, but they now do have your gene, the DNA.
They know about your future, something about your children, about your relatives. We find ourselves paralyzed because there is really nothing we can do, because the one who takes the responsibility, is the management of the health center. If they give away this information from the medical records they get money. And everybody needs money. Healthcare really needs money. So what's really the problem here? Well let's take a hypothetical example. I'm going to make all this up.
Let's pretend these are medical records of an average person. And we'll suppose that right here I see an HIV test, and then over here is medication for anxiety after what appears to be a messy divorce, and over here a parent who died of Alzheimer's. Now, this is all stuff that could happen to anybody, but do you want it all in some central computer bank? And do you want it linked in the same computer to all your relatives and to your own personal DNA file?
And should anybody have the right to go on a fishing expedition through your medical history and your DNA? Well, it may be frightening, but it also might work. So this approach, combining family trees, medical records and DNA could lead to better drugs, or to cures for a whole range of diseases. To have all of the data in one place so you can use the modern informatics equipment to juxtapose the bits and pieces of data and look for the best fit, is an absolutely fascinating possibility.
Stefansson says no one's forced to do this, and there are elaborate privacy protections in place: He also argues that the DNA part of the database is voluntary. The healthcare database only contains healthcare information.
We can cross-reference it with DNA information but only from those individuals who have been willing to give us blood, allowing us to isolate DNA, genotype it and cross-reference it with the database.
Only from those who have deliberately taken that risk. So it's not imposed on anyone, and no one who is scared of it, no one who is really afraid of it, should come and give us blood. DNA databases are popping up all over the world, including the U. They all have rules for protecting privacy, but they still make ethicists nervous. The reason I call it a diary, a future diary, is because I think it's that private.
I don't think anybody should be able to open up your future diary except you. One rather bleak vision of where all this could lead is presented in the Hollywood film "Gattaca.
Everyone who can afford it has their children made to spec. But what happens to the poor slob who was conceived the old-fashioned way? Ten fingers, ten toes, that's all that used to matter. Now, only seconds old, the exact time and cause of my death was already known. Thirty point two years. The nurse seems to know precisely what's going to happen to this baby. Which is ridiculous, right?
Or is it possible that one day we will be able to look with disturbing clarity into our future? Ten, twenty, even seventy years ahead? That is one possible future—where this becomes so routine that at birth, everybody gets a profile.
It goes right to their medical record. One copy goes to the FBI so we have an identification system for all possible crimes in the United States. To the grade school? To the high school? Like, a horrific future. Although I have to say there are many in the biotech industry and the medical profession who think that's a terrific future.
These guys in the funny suits are making gene chips. The little needles are dropping tiny, nearly invisible bits of DNA onto glass slides.
And where did the DNA come from? So a single chip, in principle, will allow you to test, say, babies for 80 different human diseases. So within a few minutes you can have a readout for thousands or even tens of thousands of babies in a single experiment.
Already babies are routinely tested for a handful of diseases. But with gene chips, everybody could be tested for hundreds of conditions. Knowing early is even better.
And that's really what the technology allows us to do. Well, taking a test and knowing is great for the baby or anybody really, as long as there's something you can do about it.
But think about this, because sometimes there may be a test but it might take 20 years or 50 years So you could take the test and you could learn that there is a disease coming your way but you can't do a thing about it. Do you still want to know? Or you could take the test, but the test won't say that you're going to get the disease, it will simply say that you may get a disease. And as you know there's a big difference between" you will" and "you may. Lissa Kapust and Lori Seigel are sisters who shared the wrenching experience of cancer in the family.
Way back there were three sisters. And then in the youngest of the three, Melanie, was diagnosed with ovarian cancer. When my sister was diagnosed, my response was disbelief. She was 30 years old. And I'd never known anybody of that age to have ovarian cancer. Melanie fought her cancer for four years, but died in It seemed an isolated piece of bad luck. But then, just about a year later Lissa discovered she had breast cancer. She was only But the cancer hadn't spread, so the long-term outlook seemed optimistic.
I actually had a radiation therapist who was tops in the field, wrote many books on breast cancer and was very optimistic. And what I remember him saying is that he and I would grow old together. And Lissa was fine for 12 years. Then she found another lump in the same breast.
It was the worst fear come true. The first time I could hold on to hope. The second time, nobody was talking with me about living to be old. When Lissa discovered her second cancer in , scientists were just beginning to work out the link between breast and ovarian cancers that run in families.
Mary-Claire King was one of the scientists who discovered that changes or mutations in two specific genes make a woman's risk of breast and ovarian cancer much higher. BRCA 1 and BRCA 2 are perfectly healthy, normal genes that all of us have, but in a few families mutations in these genes are inherited. Now we're going to make a copy; now we're going to lose two of the letters, just two and then Watch them shift over.
Do you see that? This new configuration is a mutation which can often cause breast cancer. In the United States and Western Europe and Canada, the risk of developing breast cancer for women in the population as a whole is about 10 percent over the course of her lifetime, with, of course, most of that risk occurring later in her life. Right around the time of Lissa's second bout of breast cancer, a test for BRCA mutations became available. Lissa and her sister Lori decided to be tested.
I do remember the day that I went to find out the results. I mean, what was I going to find out? Talking about, you know, the blood surging through your temples. I mean I just remember sheer terror. Turns out Lori was fine. It is not easy waking up every morning wondering if today is the day you may get sick. No questions about the results.
Again it feels like often my life is dodging bullets. With the second cancer, Lissa had her right breast completely removed and then another operation to take out her ovaries. She also has a high risk of cancer in her left breast. BRCA mutations are relatively rare and only cause maybe five or ten percent of all breast cancer. But knowing that there's a BRCA mutation in the family affects everybody. The gene doesn't go away.
The time passed since the last cancer doesn't buy you the safety. And the consequences run through the family. I suppose that for my daughter, who yet has not shown any significant impact of this, the knowledge that there's a genetic component that she can't deny will, I'm sure, color her life in serious ways.
Lissa's son, Justin, is Her daughter, Alanna, is The only way to know would be to take a test. And when should they do that? When is the right time? I actually never really thought about it until biology this year, when my teacher posed a hypothetical, supposedly, question to people, saying, "What would you do? Can you imagine what you would do, if you were faced with the situation where you knew that you might have this disease that would be deadly.
Or it would cause you to be sick and you could do a test that you could find out whether or not you had it? And then, in her senior year of high school, Alanna felt a lump in her own breast. I did have the whole, "Oh it can't be happening to me. Not yet," kind of thing. I mean, I have the reservation in the back of my mind that eventually it may very well happen to me and if it does, then I'll fight it then.
I'll deal with it then. But I don't expect Alanna's lump was not cancer. And for now she doesn't want the test. Because if she knew that she had the bad gene, she'd only have two options: She's followed every year.
Seems a little young to, you know, have her On the other hand, it also feels like the belt and suspenders technique, we just have to do everything we can do. In the next 20 years, this family's predicament will become more and more common as more and more genes are linked to more and more diseases and more tests become available.
But we will all have to ask, "Do we want to know? Driving home from work today, I was tuned in to public radio and there was a professor of astronomy talking about a brand new telescope to look into the galaxies.
And they're calling it the equivalent of the Human Genome Project. And if things aren't clear now, what about the future, when we may not only cure disease, but do so much more?
You have specified hazel eyes, dark hair and fair skin. All that remains is to select the most compatible candidate. I've taken the liberty of eradicating any potentially prejudicial conditions: And we were just wondering if it was good to leave a few things to chance. And keep in mind this child is still you, simply the best of you. You could conceive naturally a thousand times and never get such a result.
Gattaca really raised some interesting points. The technology that's being described there is, in fact, right in front of us or almost in front of us.
That seems to me almost extremely likely to happen, because what parent wouldn't want to introduce a child that wouldn't have That's why the scenario is chilling. It portrayed a society where genetic determinism had basically run wild. I think society in general has smiled upon the use of genetics for preventing terrible diseases.
But when you begin to blur that boundary of making your kids genetically different in a way that enhances their performance in some way, that starts to make most of us uneasy. What if we lived in the world of Star Trek Voyager? Lieutenant Torres is 50 percent human and 50 percent Klingon.
She's also percent pregnant. Like any caring parent, she doesn't want her unborn child to be teased for having a forehead that looks like But, here's the twist. She can do something about it. And is this the limit? Diet is just as important, if not more, then exercise. It only makes sense. Life is more than just eating. Food is foolishly a popular past time, and one of the most common anti-depressants.
View food as a way to fuel your body so that you can feel good, look good, and live your life to the fullest. Eating right is a lifestyle. With anything in life we hit bumps in the road.
Eating right does wonders for your body. Some of the benefits include higher energy levels, leaner body composition , lower cholesterol and blood pressure, and lower frequency of sickness.
Discipline is far from easy but if you have a relentless attitude and master the power of will, you will see many rewards.
Hold yourself accountable to the best of your ability and you will never have any regrets. All of your cells, muscles, skin, bones, etc. You only get one body. Show yourself some respect. You and your body deserve the best so make it a priority to keep it clean.
Eat unprocessed foods that are high in nutrition. If you treat your body right it will treat you right. In the long run your body will either be your best friend or your own worst enemy.
You can count calories and keep journals all you want. Your body will show exactly how hard you work and how nutritiously you eat. You are a walking testament of your own diet.