How can genetics help predict disease?
There are a multitude of ways that our DNA can predict the risk of conditions.For rare mutations, like the BRCA genes 1 and 2, that carry a high risk of breast and ovarian cancer, and surgery can prevent the disease from ever manifesting. And that is only 1 example of over 30 known cancer predisposition genes that can be sequenced to determine a person’s risk, especially if there is a family history of a particular type of cancer.The big progress that is being made now is with polygenic risk scores that is discussed in my book, Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again. Here hundreds of common genome variants collectively can predict risk, be it for heart disease, type 2 diabetes, breast or prostate cancer, atrial fibrillation, and more. People with the highest risk score, top 5-10%, typically carry a risk that is as high as the rare mutations like in the BRCA genes.To calculate the risk it only requires a gene chip array that assesses about 1 million letters of our genome (of > 3 billion) that vary commonly and have established an association (not cause and effect) with the various medical conditions.Such gene chip testing is done by 23andMe and Ancestry DNA and over 30 million Americans have already had one of these tests. They can even be done less expensively, which ultimately will be available (not yet) and for many people will be part of the of deep phenotyping described in another answer (what is deep medicine?).Longer term, when whole genome sequencing is less expensive (<$100) and more informative, that may be routinely used as part of predicting risk. It is important to emphasize that it is a risk and not fate, it is a probability and not deterministic. And that risk tests that have actionability—a strategy to prevent the condition—is important.Otherwise knowing the risk, without any way to mitigate it, is pretty unhelpful.
The reason most serious genetic diseases are rare is that _____________________.?
It's 2, none of these. Serious genetic diseases are rare because a serious disease prevents a person from procreating. (For example, by killing them.) This is why most genetic diseases are recessive; dominant diseases go extinct because they kill their "host" before they can procreate. Genetic diseases essentially cause selection against themselves, making them rare. Imagine you had a gene mutation that made you completely infertile. You're not very likely to pass on these genes, are you? That's why genetic infertility is pretty rare.
Which is the best book to learn genetics?
There are numerous books to study Genetics but I will suggest you some of interesting books you should followGenetics: Analysis and Principles, by Robert BookerPrinciples of Genetics by GardnerGenetics: A Molecular Approach by T. A. BrownConcept of Genetics by KlugGenetics: A conceptual Approach by PierceAn introduction to Genetic Analysis by GriffithsTheory and Problems of Genetics by Stansfield.Genetics: Analysis of Genes and Genomes by Hartl and RuboloGenetics by Fletcher and Hickey.Genes IX by LewinApart from these mentioned books you should also readThe Selfish Gene by Richard DawkinsThe Ancestor’s Tale, by Richard DawkinsThe Origins of Genome Architecture, by Michael LynchEvolutionary Genomics and Proteomics, by Mark Pagel and Andrew PomiankowskiRosalind Franklin: The Dark Lady of DNA by Brenda MaddoxThe Human Genome: Book of Essential Knowledge, by John QuackenbushThe Signature in the Cell, by Stephen C. MeyerThe Immortal Life of Henrietta Lacks, by Rebecca SklootNext: A Novel by Michael CrichtonI hope this will help
How do we make people aware of rare genetic diseases?
It can be very hard to bring about awareness of rare genetic diseases. I belong to a number of rare disease groups that I support financially and by my presence at conferences. I have also written two books to help raise awareness. I donate my royalties from the sale of the books to research because my primary reason for writing them is to help raise awareness by telling the true stories of those who are living with rare diseases. I also buy books about rare diseases as a way of encouraging others to spread awareness. My books are Kelley’s Journey: Facing a Rare Disease with Courage and Diagnosis: Rare Disease.
Prevention of diseases?
There are levels of prevention: (1) primordial prevention (preventing the emergence of predisposing social and environmental conditions that can lead to causation of disease); (2) primary prevention; (3) secondary prevention; and (4) tertiary prevention to improve function, minimize impact and delay complications. There's also quaternary prevention which is defined as an action taken to identify a patient at risk of over-medicalization, to protect him from new medical invasion, and to suggest to him interventions which are ethically acceptable. Since you're asking only about primordial and primary, I'll give you an example of each using cardiovascular disease (CVD) as the condition we wish to prevent. Primordial: This implements lifestyle modifications to maintain ideal body weight and to limit sodium consumption are means of preventing the development of high blood pressure. In this example, the goal of primordial prevention is prevent and avoid developing the risk factors that lead to CVD. Hypertension is a known risk factor. Primary: This is the prevention of the onset of symptomatic disease through the treatment of risk factors for cardiovascular disease, such as treating hypertension to prevent stroke. In this example, the risk factor hypertension already exists but is being treated to avoid CVD. I hope this clearly explains what primordial and primary prevention are and the difference between them.
What would be a beginners' book to learn about genetics?
By MendelGregor Mendel's Experiments on Plant HybridsMendel's Principles of Heredity: A Defence, with a Translation of Mendel's Original Papers on HybridisationPlant Hybridization Before MendelBy T.H MorganThe theory of the geneExperimental Embryologycritique of the theory of evolutionEmbryology And Genetics
Why do we have genes that cause genetic disorders?
Evolution has its basis in mutation, although sometimes you get a genetic mutation that benefits the species, most of them are bad. These become genetic disorders if they manage to be reproduced when the individual with the gene reproduces. Another possibility, for things like Downs syndrome, is that the chromosomes do not divide properly, creating trisomys (spelling is wrong here), in which the embryo has too many of a chromosome
Do you know of any rare, fatal and visible diseases?
I need to know about some rare diseases that are deadly and visible (possibly disfiguring). If you name any particularly bad ones, with a short description if possible. The two I have at the moment are Fibrodysplasia ossificans progressive (the genetic disease that turns muscles to bone) and Necrotizing Fasciitis (the 'flesh eating' disease) so if you know of any like these let me know. If you're wondering why, I'm trying to do research on medical problems for a book I'm writing. It's going to include a variety of short horror stories. I'm trying to write stories that are more realistic, involving real problems and I know this one is slightly less realistic but one of my ideas is for a medical scientist who develops a way to infect people with these diseases. I know some of them are genetic which is why it's less realistic but this possibly touches on science fiction so it isn't so bad. I just need to know about some bad physical diseases people can be affected by.