Joselin Linder's moving medical memoir, The Family Gene, reminds us that research findings should be shared faster and that many important yet simple questions in human genetics remain unanswered.
Thank you for all the work and information you put in to this article. I just listened to this case on a podcast, and as someone in the medical field who loves mysteries and genetics, it really bugged me that I couldn’t find any info about this disease.
While genetics science has long been heralded as the door to miracle medicine, is it not a reality that in general it has failed to make much of a difference because the issue is not what genes one might have, nasty or nice in medical terms, but what makes them switch on or off?
Logic would say that the better the health of the individual and the less chemical stress the body must suffer, including from medications and vaccinations, then the greater the chances that as Chinese medicine would say, the body remains in balance, in harmony, and health, i.e. genes do not switch on to cause disease.
The interesting study would be, out of 100 people with the genes which predispose to disease X, how many actually develop the disease and what are their circumstances, physiologically, biologically, environmental, spiritually, mentally, psychologically, emotionally?
With any scientific advance/insight, the promise is easier to imagine than bring to fruition. Personally, I think genetics has outperformed a lot of other biomedical fields, becoming really the central field. There have been those who have oversold its value, but, even just a couple weeks ago, we saw the first in vivo genetic repair of a CPS1 null mutation in an infant.
When we're talking about complex, chronic diseases like diabetes or heart disease, the impact of genetic is much more muted relative to rare disease. However, the recent eMERGE study has shown that polygenic risk scoring does provide clinically useful information, allowing patients to be stratified by risk. Progress on turning polygenic scores into useful prediction tools has been slow, but I think we'll see them prove themselves in the coming years.
>Logic would say that the better the health of the individual and the less chemical stress the body must suffer, including from medications and vaccinations, then the greater the chances that as Chinese medicine would say, the body remains in balance, in harmony, and health, i.e. genes do not switch on to cause disease.<
The dynamics of gene regulation (aka what genes are turned on or off and when and where that happens in the body) are exceedingly complex. It is even subject to a lot of random noise.
The picture you paint above overlooks some empirical observations we are fairly confident about, such as the proportional causes of morbidity and mortality. Somewhere between 5-15% of all disease burden is caused directly by genetic mutations in a single gene or genomic region. Then, there is the proportional input of genes on the big killers (cancer, heart disease, metabolic disease) and these effects often come about in interaction with the environment. Then, there is the issue of aspects of evolved human biology mismatching modern environments. For instance, the circuits that govern satiety didn't evolve in the presence of caloric abundance or extremely tasty and processed foods so over a lifespan most people are prone to overeat and end up metabolically unhealthy.
<The interesting study would be, out of 100 people with the genes which predispose to disease X, how many actually develop the disease and what are their circumstances, physiologically, biologically, environmental, spiritually, mentally, psychologically, emotionally?>
The concept you raise here is well studied. It is called "penetrance." For typical Mendelian (single gene) diseases (e.g. Tay Sachs, Cystic Fibrosis), the penetrance is near 100%. It is in complex traits (e.g. height, heart disease, etc) where the relationship between genetic variation and trait outcomes start becoming more probabilistic (penetrance << 100%) because other factors in the environment also play an important role in trait outcomes.
Thanks for that comprehensive and informative response. I am coming from a lay position sourced in scepticism in regard to science-medicine, for the reasons you cite in your first few words.
Unfortunately science and particularly medicine are profit-driven entities and much is sold to the market and the industry in the name of profit while masquerading as altruistic intent.
As you said, the high success rates are in the rare diseases and that means they account for a trivial percentage in the population, while of course being major for those involved.
Unfortunately the gene scream is very loud and too many of the public think, as it sounds, oh, it's just my genes and science-medicine will fix that when of course it is never just our genes.
And it needs to be understood that science can only know, not understand, just know, what it can measure. Which then brings us to the other factors such as what does science medicine choose to measure, where, how, in who and who pays for it and who benefits from the results should the study confirm the focus? The medical industry has become increasingly corrupted in recent decades and senior medical figures have said that for a long time.
Can genetic diseases be reduced to what we can measure? And what part does the mind play in someone who is told they have a certain gene which has a certain chance of manifesting as some horrible disease? We know from studying physical manifestations from mind, wounds of Jesus, fake pregnancy, how remarkably the physical body can manifest what is believed, particularly unconsciously.
So, a can of worms/genes and I would have less issue with the research if the gene theory was not being forever sold in the name of fear-driven profit. The human organism is far too unique, individual and complex to ever be reduced to genes.
Interestingly, we also find that for which we look and such often unconscious and conscious subjectivity plays a part in research outcomes. This approach of tickbox medicine, often for fad diseases, frequently overlooks clear symptoms of a different cause which does not fit the box.
But I am sure it is all fascinating and no doubt useful research. Good luck with it. A healthy human, something modern science-medicine totally ignores if not disdains, is still our best bet for surviving and thriving in life.
Thank you for all the work and information you put in to this article. I just listened to this case on a podcast, and as someone in the medical field who loves mysteries and genetics, it really bugged me that I couldn’t find any info about this disease.
Thanks! Glad to know I wasn't alone in my frustration!
Fascinating, Stetson!
While genetics science has long been heralded as the door to miracle medicine, is it not a reality that in general it has failed to make much of a difference because the issue is not what genes one might have, nasty or nice in medical terms, but what makes them switch on or off?
Logic would say that the better the health of the individual and the less chemical stress the body must suffer, including from medications and vaccinations, then the greater the chances that as Chinese medicine would say, the body remains in balance, in harmony, and health, i.e. genes do not switch on to cause disease.
The interesting study would be, out of 100 people with the genes which predispose to disease X, how many actually develop the disease and what are their circumstances, physiologically, biologically, environmental, spiritually, mentally, psychologically, emotionally?
With any scientific advance/insight, the promise is easier to imagine than bring to fruition. Personally, I think genetics has outperformed a lot of other biomedical fields, becoming really the central field. There have been those who have oversold its value, but, even just a couple weeks ago, we saw the first in vivo genetic repair of a CPS1 null mutation in an infant.
When we're talking about complex, chronic diseases like diabetes or heart disease, the impact of genetic is much more muted relative to rare disease. However, the recent eMERGE study has shown that polygenic risk scoring does provide clinically useful information, allowing patients to be stratified by risk. Progress on turning polygenic scores into useful prediction tools has been slow, but I think we'll see them prove themselves in the coming years.
>Logic would say that the better the health of the individual and the less chemical stress the body must suffer, including from medications and vaccinations, then the greater the chances that as Chinese medicine would say, the body remains in balance, in harmony, and health, i.e. genes do not switch on to cause disease.<
The dynamics of gene regulation (aka what genes are turned on or off and when and where that happens in the body) are exceedingly complex. It is even subject to a lot of random noise.
The picture you paint above overlooks some empirical observations we are fairly confident about, such as the proportional causes of morbidity and mortality. Somewhere between 5-15% of all disease burden is caused directly by genetic mutations in a single gene or genomic region. Then, there is the proportional input of genes on the big killers (cancer, heart disease, metabolic disease) and these effects often come about in interaction with the environment. Then, there is the issue of aspects of evolved human biology mismatching modern environments. For instance, the circuits that govern satiety didn't evolve in the presence of caloric abundance or extremely tasty and processed foods so over a lifespan most people are prone to overeat and end up metabolically unhealthy.
<The interesting study would be, out of 100 people with the genes which predispose to disease X, how many actually develop the disease and what are their circumstances, physiologically, biologically, environmental, spiritually, mentally, psychologically, emotionally?>
The concept you raise here is well studied. It is called "penetrance." For typical Mendelian (single gene) diseases (e.g. Tay Sachs, Cystic Fibrosis), the penetrance is near 100%. It is in complex traits (e.g. height, heart disease, etc) where the relationship between genetic variation and trait outcomes start becoming more probabilistic (penetrance << 100%) because other factors in the environment also play an important role in trait outcomes.
Thanks for that comprehensive and informative response. I am coming from a lay position sourced in scepticism in regard to science-medicine, for the reasons you cite in your first few words.
Unfortunately science and particularly medicine are profit-driven entities and much is sold to the market and the industry in the name of profit while masquerading as altruistic intent.
As you said, the high success rates are in the rare diseases and that means they account for a trivial percentage in the population, while of course being major for those involved.
Unfortunately the gene scream is very loud and too many of the public think, as it sounds, oh, it's just my genes and science-medicine will fix that when of course it is never just our genes.
And it needs to be understood that science can only know, not understand, just know, what it can measure. Which then brings us to the other factors such as what does science medicine choose to measure, where, how, in who and who pays for it and who benefits from the results should the study confirm the focus? The medical industry has become increasingly corrupted in recent decades and senior medical figures have said that for a long time.
Can genetic diseases be reduced to what we can measure? And what part does the mind play in someone who is told they have a certain gene which has a certain chance of manifesting as some horrible disease? We know from studying physical manifestations from mind, wounds of Jesus, fake pregnancy, how remarkably the physical body can manifest what is believed, particularly unconsciously.
So, a can of worms/genes and I would have less issue with the research if the gene theory was not being forever sold in the name of fear-driven profit. The human organism is far too unique, individual and complex to ever be reduced to genes.
Interestingly, we also find that for which we look and such often unconscious and conscious subjectivity plays a part in research outcomes. This approach of tickbox medicine, often for fad diseases, frequently overlooks clear symptoms of a different cause which does not fit the box.
But I am sure it is all fascinating and no doubt useful research. Good luck with it. A healthy human, something modern science-medicine totally ignores if not disdains, is still our best bet for surviving and thriving in life.