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atheism | Definition, Philosophy, & Comparison to …

Atheism, in general, the critique and denial of metaphysical beliefs in God or spiritual beings. As such, it is usually distinguished from theism, which affirms the reality of the divine and often seeks to demonstrate its existence. Atheism is also distinguished from agnosticism, which leaves open the question whether there is a god or not, professing to find the questions unanswered or unanswerable.

The dialectic of the argument between forms of belief and unbelief raises questions concerning the most perspicuous delineation, or characterization, of atheism, agnosticism, and theism. It is necessary not only to probe the warrant for atheism but also carefully to consider what is the most adequate definition of atheism. This article will start with what have been some widely accepted, but still in various ways mistaken or misleading, definitions of atheism and move to more adequate formulations that better capture the full range of atheist thought and more clearly separate unbelief from belief and atheism from agnosticism. In the course of this delineation the section also will consider key arguments for and against atheism.

A central, common core of Judaism, Christianity, and Islam is the affirmation of the reality of one, and only one, God. Adherents of these faiths believe that there is a God who created the universe out of nothing and who has absolute sovereignty over all his creation; this includes, of course, human beingswho are not only utterly dependent on this creative power but also sinful and who, or so the faithful must believe, can only make adequate sense of their lives by accepting, without question, Gods ordinances for them. The varieties of atheism are numerous, but all atheists reject such a set of beliefs.

Atheism, however, casts a wider net and rejects all belief in spiritual beings, and to the extent that belief in spiritual beings is definitive of what it means for a system to be religious, atheism rejects religion. So atheism is not only a rejection of the central conceptions of Judaism, Christianity, and Islam; it is, as well, a rejection of the religious beliefs of such African religions as that of the Dinka and the Nuer, of the anthropomorphic gods of classical Greece and Rome, and of the transcendental conceptions of Hinduism and Buddhism. Generally atheism is a denial of God or of the gods, and if religion is defined in terms of belief in spiritual beings, then atheism is the rejection of all religious belief.

It is necessary, however, if a tolerably adequate understanding of atheism is to be achieved, to give a reading to rejection of religious belief and to come to realize how the characterization of atheism as the denial of God or the gods is inadequate.

To say that atheism is the denial of God or the gods and that it is the opposite of theism, a system of belief that affirms the reality of God and seeks to demonstrate his existence, is inadequate in a number of ways. First, not all theologians who regard themselves as defenders of the Christian faith or of Judaism or Islam regard themselves as defenders of theism. The influential 20th-century Protestant theologian Paul Tillich, for example, regards the God of theism as an idol and refuses to construe God as a being, even a supreme being, among beings or as an infinite being above finite beings. God, for him, is being-itself, the ground of being and meaning. The particulars of Tillichs view are in certain ways idiosyncratic, as well as being obscure and problematic, but they have been influential; and his rejection of theism, while retaining a belief in God, is not eccentric in contemporary theology, though it may very well affront the plain believer.

Second, and more important, it is not the case that all theists seek to demonstrate or even in any way rationally to establish the existence of God. Many theists regard such a demonstration as impossible, and fideistic believers (e.g., Johann Hamann and Sren Kierkegaard) regard such a demonstration, even if it were possible, as undesirable, for in their view it would undermine faith. If it could be proved, or known for certain, that God exists, people would not be in a position to accept him as their sovereign Lord humbly on faith with all the risks that entails. There are theologians who have argued that for genuine faith to be possible God must necessarily be a hidden God, the mysterious ultimate reality, whose existence and authority must be accepted simply on faith. This fideistic view has not, of course, gone without challenge from inside the major faiths, but it is of sufficient importance to make the above characterization of atheism inadequate.

Finally, and most important, not all denials of God are denials of his existence. Believers sometimes deny God while not being at all in a state of doubt that God exists. They either willfully reject what they take to be his authority by not acting in accordance with what they take to be his will, or else they simply live their lives as if God did not exist. In this important way they deny him. Such deniers are not atheists (unless we wish, misleadingly, to call them practical atheists). They are not even agnostics. They do not question that God exists; they deny him in other ways. An atheist denies the existence of God. As it is frequently said, atheists believe that it is false that God exists, or that Gods existence is a speculative hypothesis of an extremely low order of probability.

Yet it remains the case that such a characterization of atheism is inadequate in other ways. For one it is too narrow. There are atheists who believe that the very concept of God, at least in developed and less anthropomorphic forms of Judeo-Christianity and Islam, is so incoherent that certain central religious claims, such as God is my creator to whom everything is owed, are not genuine truth-claims; i.e., the claims could not be either true or false. Believers hold that such religious propositions are true, some atheists believe that they are false, and there are agnostics who cannot make up their minds whether to believe that they are true or false. (Agnostics think that the propositions are one or the other but believe that it is not possible to determine which.) But all three are mistaken, some atheists argue, for such putative truth-claims are not sufficiently intelligible to be genuine truth-claims that are either true or false. In reality there is nothing in them to be believed or disbelieved, though there is for the believer the powerful and humanly comforting illusion that there is. Such an atheism, it should be added, rooted for some conceptions of God in considerations about intelligibility and what it makes sense to say, has been strongly resisted by some pragmatists and logical empiricists.

While the above considerations about atheism and intelligibility show the second characterization of atheism to be too narrow, it is also the case that this characterization is in a way too broad. For there are fideistic believers, who quite unequivocally believe that when looked at objectively the proposition that God exists has a very low probability weight. They believe in God not because it is probable that he existsthey think it more probable that he does notbut because belief is thought by them to be necessary to make sense of human life. The second characterization of atheism does not distinguish a fideistic believer (a Blaise Pascal or a Soren Kierkegaard) or an agnostic (a T.H. Huxley or a Sir Leslie Stephen) from an atheist such as Baron dHolbach. All believe that there is a God and God protects humankind, however emotionally important they may be, are speculative hypotheses of an extremely low order of probability. But this, since it does not distinguish believers from nonbelievers and does not distinguish agnostics from atheists, cannot be an adequate characterization of atheism.

It may be retorted that to avoid apriorism and dogmatic atheism the existence of God should be regarded as a hypothesis. There are no ontological (purely a priori) proofs or disproofs of Gods existence. It is not reasonable to rule in advance that it makes no sense to say that God exists. What the atheist can reasonably claim is that there is no evidence that there is a God, and against that background he may very well be justified in asserting that there is no God. It has been argued, however, that it is simply dogmatic for an atheist to assert that no possible evidence could ever give one grounds for believing in God. Instead, atheists should justify their unbelief by showing (if they can) how the assertion is well-taken that there is no evidence that would warrant a belief in God. If atheism is justified, the atheist will have shown that in fact there is no adequate evidence for the belief that God exists, but it should not be part of his task to try to show that there could not be any evidence for the existence of God. If the atheist could somehow survive the death of his present body (assuming that such talk makes sense) and come, much to his surprise, to stand in the presence of God, his answer should be, Oh! Lord, you didnt give me enough evidence! He would have been mistaken, and realize that he had been mistaken, in his judgment that God did not exist. Still, he would not have been unjustified, in the light of the evidence available to him during his earthly life, in believing as he did. Not having any such postmortem experiences of the presence of God (assuming that he could have them), what he should say, as things stand and in the face of the evidence he actually has and is likely to be able to get, is that it is false that God exists. (Every time one legitimately asserts that a proposition is false one need not be certain that it is false. Knowing with certainty is not a pleonasm.) The claim is that this tentative posture is the reasonable position for the atheist to take.

An atheist who argues in this manner may also make a distinctive burden-of-proof argument. Given that God (if there is one) is by definition a very recherch realitya reality that must be (for there to be such a reality) transcendent to the worldthe burden of proof is not on the atheist to give grounds for believing that there is no reality of that order. Rather, the burden of proof is on the believer to give some evidence for Gods existencei.e., that there is such a reality. Given what God must be, if there is a God, the theist needs to present the evidence, for such a very strange reality. He needs to show that there is more in the world than is disclosed by common experience. The empirical method, and the empirical method alone, such an atheist asserts, affords a reliable method for establishing what is in fact the case. To the claim of the theist that there are in addition to varieties of empirical facts spiritual facts or transcendent facts, such as it being the case that there is a supernatural, self-existent, eternal power, the atheist can assert that such facts have not been shown.

It will, however, be argued by such atheists, against what they take to be dogmatic aprioristic atheists, that the atheist should be a fallibilist and remain open-minded about what the future may bring. There may, after all, be such transcendent facts, such metaphysical realities. It is not that such a fallibilistic atheist is really an agnostic who believes that he is not justified in either asserting that God exists or denying that he exists and that what he must reasonably do is suspend belief. On the contrary, such an atheist believes that he has very good grounds indeed, as things stand, for denying the existence of God. But he will, on the second conceptualization of what it is to be an atheist, not deny that things could be otherwise and that, if they were, he would be justified in believing in God or at least would no longer be justified in asserting that it is false that there is a God. Using reliable empirical techniques, proven methods for establishing matters of fact, the fallibilistic atheist has found nothing in the universe to make a belief that God exists justifiable or even, everything considered, the most rational option of the various options. He therefore draws the atheistical conclusion (also keeping in mind his burden-of-proof argument) that God does not exist. But he does not dogmatically in a priori fashion deny the existence of God. He remains a thorough and consistent fallibilist.

Such a form of atheism (the atheism of those pragmatists who are also naturalistic humanists), though less inadequate than the first formation of atheism, is still inadequate. God in developed forms of Judaism, Christianity, and Islam is not, like Zeus or Odin, construed in a relatively plain anthropomorphic way. Nothing that could count as God in such religions could possibly be observed, literally encountered, or detected in the universe. God, in such a conception, is utterly transcendent to the world; he is conceived of as pure spirit, an infinite individual who created the universe out of nothing and who is distinct from the universe. Such a realitya reality that is taken to be an ultimate mysterycould not be identified as objects or processes in the universe can be identified. There can be no pointing at or to God, no ostensive teaching of God, to show what is meant. The word God can only be taught intralinguistically. God is taught to someone who does not understand what the word means by the use of descriptions such as the maker of the universe, the eternal, utterly independent being upon whom all other beings depend, the first cause, the sole ultimate reality, or a self-caused being. For someone who does not understand such descriptions, there can be no understanding of the concept of God. But the key terms of such descriptions are themselves no more capable of ostensive definition (of having their referents pointed out) than is God, where that term is not, like Zeus, construed anthropomorphically. (That does not mean that anyone has actually pointed to Zeus or observed Zeus but that one knows what it would be like to do so.)

In coming to understand what is meant by God in such discourses, it must be understood that God, whatever else he is, is a being that could not possibly be seen or be in any way else observed. He could not be anything material or empirical, and he is said by believers to be an intractable mystery. A nonmysterious God would not be the God of Judaism, Christianity, and Islam.

This, in effect, makes it a mistake to claim that the existence of God can rightly be treated as a hypothesis and makes it a mistake to claim that, by the use of the experimental method or some other determinate empirical method, the existence of God can be confirmed or disconfirmed as can the existence of an empirical reality. The retort made by some atheists, who also like pragmatists remain thoroughgoing fallibilists, is that such a proposed way of coming to know, or failing to come to know, God makes no sense for anyone who understands what kind of reality God is supposed to be. Anything whose existence could be so verified would not be the God of Judeo-Christianity. God could not be a reality whose presence is even faintly adumbrated in experience, for anything that could even count as the God of Judeo-Christianity must be transcendent to the world. Anything that could actually be encountered or experienced could not be God.

At the very heart of a religion such as Christianity there stands a metaphysical belief in a reality that is alleged to transcend the empirical world. It is the metaphysical belief that there is an eternal, ever-present creative source and sustainer of the universe. The problem is how it is possible to know or reasonably believe that such a reality exists or even to understand what such talk is about.

It is not that God is like a theoretical entity in physics such as a proton or a neutrino. They are, where they are construed as realities rather than as heuristically useful conceptual fictions, thought to be part of the actual furniture of the universe. They are not said to be transcendent to the universe, but rather are invisible entities in the universe logically on a par with specks of dust and grains of sand, only much, much smaller. They are on the same continuum; they are not a different kind of reality. It is only the case that they, as a matter of fact, cannot be seen. Indeed no one has an understanding of what it would be like to see a proton or a neutrinoin that way they are like Godand no provision is made in physical theory for seeing them. Still, there is no logical ban on seeing them as there is on seeing God. They are among the things in the universe, and thus, though they are invisible, they can be postulated as causes of things that are seen. Since this is so it becomes at least logically possible indirectly to verify by empirical methods the existence of such realities. It is also the case that there is no logical ban on establishing what is necessary to establish a causal connection, namely a constant conjunction of two discrete empirical realities. But no such constant conjunction can be established or even intelligibly asserted between God and the universe, and thus the existence of God is not even indirectly verifiable. God is not a discrete empirical thing or being, and the universe is not a gigantic thing or process over and above the things and processes in the universe of which it makes sense to say that the universe has or had a cause. But then there is no way, directly or indirectly, that even the probability that there is a God could be empirically established.

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atheism | Definition, Philosophy, & Comparison to …

Atheism – Simple English Wikipedia, the free encyclopedia

Atheism is rejecting the belief in a god or gods. It is the opposite of theism, which is the belief that at least one god exists.A person who rejects belief in gods is called an atheist.Theism is the belief in one or more gods. Adding an a, meaning “without”, before the word theism results in atheism, or literally, “without theism”.. Atheism is not the same as agnosticism: agnostics say that …

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Atheism – Simple English Wikipedia, the free encyclopedia

atheism r/atheism – reddit: the front page of the internet

This happened around last year when they just found out that i was an atheist. My parents sat down with me (and for some reason they roped my brother in too) to kinda talk it out with them, the why and how and all that.

So my father was talking about how god had blessed him and his family with a luxurious and comfortable life. I, thinking that my parents would hear me out since they got out of their own way just to talk about religion with us, told them that i believed that they worked hard and earned the money themselves.

Surprisingly enough, my father immediately blew his top off and yelled at me, insisting that it was by god’s grace that we are now able to live such a good life. He then, for some reason told me that my ability to draw was a god-given talent. Naturally, i was pissed. After all, i went to years and years of art class just to be able to draw like i do now, though it only looks nice in my family’s standards since i’m the only one in my family that can draw. But i didn’t say anything back since i don’t want to start another war with m parents.

Seriously, if it really was just god’s grace that allowed my family to live comfortably, why have i never seen god just bestow upon my father a paycheck? Why is it that he’s so happy about having all his hard work credited to an invisible sky daddy? Call me greedy or selfish, but if someone took all the credit to my hard work i’d be bloody pissed. But hey, thanks for reading this.

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atheism r/atheism – reddit: the front page of the internet

Atheism | CARM.org

Atheism is a lack of belief in any God and deities as well as a total denial of the existence of any god. It is a growing movement that is becoming more aggressive, more demanding, and less tolerant of anything other than itself – as is exemplified by its adherents. Is atheism a sound philosophical system as a worldview or is it ultimately self-defeating? Is the requirement of empirical evidence for God a mistake in logic or is it a fair demand? Can we prove that God exists or is that impossible? Find out more about atheism, its arguments, and its problems here at CARM. Learn how to deal with the arguments raised against the existence of God that seek to replace Him with naturalism, materialism, and moral relativism.

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Atheism | CARM.org

Cryptocurrency News: This Week on Bitfinex, Tether, Coinbase, & More

Cryptocurrency News
On the whole, cryptocurrency prices are down from our previous report on cryptos, with the market slipping on news of an exchange being hacked and a report about Bitcoin manipulation.

However, there have been two bright spots: 1) an official from the U.S. Securities and Exchange Commission (SEC) said that Ethereum is not a security, and 2) Coinbase is expanding its selection of tokens.

Let’s start with the good news.
SEC Says ETH Is Not a Security
Investors have some reason to cheer this week. A high-ranking SEC official told attendees of the Yahoo! All Markets Summit: Crypto that Ethereum and Bitcoin are not.

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Cryptocurrency News: This Week on Bitfinex, Tether, Coinbase, & More

Ripple Price Forecast: XRP vs SWIFT, SEC Updates, and More

Ripple vs SWIFT: The War Begins
While most criticisms of XRP do nothing to curb my bullish Ripple price forecast, there is one obstacle that nags at my conscience. Its name is SWIFT.

The Society for Worldwide Interbank Financial Telecommunication (SWIFT) is the king of international payments.

It coordinates wire transfers across 11,000 banks in more than 200 countries and territories, meaning that in order for XRP prices to ascend to $10.00, Ripple needs to launch a successful coup. That is, and always has been, an unwritten part of Ripple’s story.

We’ve seen a lot of progress on that score. In the last three years, Ripple wooed more than 100 financial firms onto its.

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Cryptocurrency News: Bitcoin ETFs, Andreessen Horowitz, and Contradictions in Crypto

Cryptocurrency News
This was a bloody week for cryptocurrencies. Everything was covered in red, from Ethereum (ETH) on down to the Basic Attention Token (BAT).

Some investors claim it was inevitable. Others say that price manipulation is to blame.

We think the answers are more complicated than either side has to offer, because our research reveals deep contradictions between the price of cryptos and the underlying development of blockchain projects.

For instance, a leading venture capital (VC) firm launched a $300.0-million crypto investment fund, yet liquidity continues to dry up in crypto markets.

Another example is the U.S. Securities and Exchange Commission’s.

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Cryptocurrency News: Bitcoin ETFs, Andreessen Horowitz, and Contradictions in Crypto

Cryptocurrency News: Looking Past the Bithumb Crypto Hack

Another Crypto Hack Derails Recovery
Since our last report, hackers broke into yet another cryptocurrency exchange. This time the target was Bithumb, a Korean exchange known for high-flying prices and ultra-active traders.

While the hackers made off with approximately $31.5 million in funds, the exchange is working with relevant authorities to return the stolen tokens to their respective owners. In the event that some is still missing, the exchange will cover the losses. (Source: “Bithumb Working With Other Crypto Exchanges to Recover Hacked Funds,”.

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Cryptocurrency News: Looking Past the Bithumb Crypto Hack

Cryptocurrency News: XRP Validators, Malta, and Practical Tokens

Cryptocurrency News & Market Summary
Investors finally saw some light at the end of the tunnel last week, with cryptos soaring across the board. No one quite knows what kicked off the rally—as it could have been any of the stories we discuss below—but the net result was positive.

Of course, prices won’t stay on this rocket ride forever. I expect to see a resurgence of volatility in short order, because the market is moving as a single unit. Everything is rising in tandem.

This tells me that investors are simply “buying the dip” rather than identifying which cryptos have enough real-world value to outlive the crash.

So if you want to know when.

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Cryptocurrency News: XRP Validators, Malta, and Practical Tokens

Cryptocurrency News: Bitcoin ETF Rejection, AMD Microchip Sales, and Hedge Funds

Cryptocurrency News
Although cryptocurrency prices were heating up last week (Bitcoin, especially), regulators poured cold water on the rally by rejecting calls for a Bitcoin exchange-traded fund (ETF). This is the second time that the proposal fell on deaf ears. (More on that below.)

Crypto mining ran into similar trouble, as you can see from Advanced Micro Devices, Inc.‘s (NASDAQ:AMD) most recent quarterly earnings. However, it wasn’t all bad news. Investors should, for instance, be cheering the fact that hedge funds are ramping up their involvement in cryptocurrency markets.

Without further ado, here are those stories in greater detail.
ETF Rejection.

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Cryptocurrency News: Bitcoin ETF Rejection, AMD Microchip Sales, and Hedge Funds

Cryptocurrency News: What You Need to Know This Week

Cryptocurrency News
Cryptocurrencies traded sideways since our last report on cryptos. However, I noticed something interesting when playing around with Yahoo! Finance’s cryptocurrency screener: There are profitable pockets in this market.

Incidentally, Yahoo’s screener is far superior to the one on CoinMarketCap, so if you’re looking to compare digital assets, I highly recommend it.

But let’s get back to my epiphany.

In the last month, at one point or another, most crypto assets on our favorites list saw double-digit increases. It’s true that each upswing was followed by a hard crash, but investors who rode the trend would have made a.

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Cryptocurrency News: New Exchanges Could Boost Crypto Liquidity

Cryptocurrency News
Even though the cryptocurrency news was upbeat in recent days, the market tumbled after the U.S. Securities and Exchange Commission (SEC) rejected calls for a Bitcoin (BTC) exchange-traded fund (ETF).

That news came as a blow to investors, many of whom believe the ETF would open the cryptocurrency industry up to pension funds and other institutional investors. This would create a massive tailwind for cryptos, they say.

So it only follows that a rejection of the Bitcoin ETF should send cryptos tumbling, correct? Well, maybe you can follow that logic. To me, it seems like a dramatic overreaction.

I understand that legitimizing cryptos is important. But.

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Cryptocurrency News: New Exchanges Could Boost Crypto Liquidity

Cryptocurrency News: Vitalik Buterin Doesn’t Care About Bitcoin ETFs

Cryptocurrency News
While headline numbers look devastating this week, investors might take some solace in knowing that cryptocurrencies found their bottom at roughly $189.8 billion in market cap—that was the low point. Since then, investors put more than $20.0 billion back into the market.

During the rout, Ethereum broke below $300.00 and XRP fell below $0.30, marking yearly lows for both tokens. The same was true down the list of the top 100 biggest cryptos.

Altcoins took the brunt of the hit. BTC Dominance, which reveals how tightly investment is concentrated in Bitcoin, rose from 42.62% to 53.27% in just one month, showing that investors either fled altcoins at higher.

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Cryptocurrency News: Vitalik Buterin Doesn’t Care About Bitcoin ETFs

Bitcoin Rise: Is the Recent Bitcoin Price Surge a Sign of Things to Come or Another Misdirection?

What You Need to Know About the Bitcoin Price Rise
It wasn’t that long ago that Bitcoin (BTC) dominated headlines for its massive growth, with many cryptocurrency millionaires being made. The Bitcoin price surged ever upward and many people thought the gravy train would never stop running—until it did.

Prices crashed, investors abandoned the space, and lots of people lost money. Cut to today and we’re seeing another big Bitcoin price surge; is this time any different?

I’m of a mind that investors ought to think twice before jumping back in on Bitcoin.

Bitcoin made waves when it once again crested above $5,000. Considering that it started 2019 around $3,700,.

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Bitcoin Rise: Is the Recent Bitcoin Price Surge a Sign of Things to Come or Another Misdirection?

Medical genetics – Wikipedia

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions. The medical genetics community is increasingly involved with individuals who have undertaken elective genetic and genomic testing.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, Doctors who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no “cure” for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound “A” is metabolized to “B” by enzyme “X”, compound “B” is metabolized to “C” by enzyme “Y”, and compound “C” is metabolized to “D” by enzyme “Z”.If enzyme “Z” is missing, compound “D” will be missing, while compounds “A”, “B”, and “C” will build up. The pathogenesis of this particular condition could result from lack of compound “D”, if it is critical for some cellular function, or from toxicity due to excess “A”, “B”, and/or “C”, or from toxicity due to the excess of “E” which is normally only present in small amounts and only accumulates when “C” is in excess. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound “D” and dietary restriction of compounds “A”, “B”, and/or “C” or by treatment with a medication that promoted disposal of excess “A”, “B”, “C” or “E”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme “Z” or cofactor therapy to increase the efficacy of any residual “Z” activity.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a “snapshot” of an individual’s health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]

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Medical genetics – Wikipedia

Medical genetics – Wikipedia

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions. The medical genetics community is increasingly involved with individuals who have undertaken elective genetic and genomic testing.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, Doctors who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no “cure” for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound “A” is metabolized to “B” by enzyme “X”, compound “B” is metabolized to “C” by enzyme “Y”, and compound “C” is metabolized to “D” by enzyme “Z”.If enzyme “Z” is missing, compound “D” will be missing, while compounds “A”, “B”, and “C” will build up. The pathogenesis of this particular condition could result from lack of compound “D”, if it is critical for some cellular function, or from toxicity due to excess “A”, “B”, and/or “C”, or from toxicity due to the excess of “E” which is normally only present in small amounts and only accumulates when “C” is in excess. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound “D” and dietary restriction of compounds “A”, “B”, and/or “C” or by treatment with a medication that promoted disposal of excess “A”, “B”, “C” or “E”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme “Z” or cofactor therapy to increase the efficacy of any residual “Z” activity.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a “snapshot” of an individual’s health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[3][4][5][6] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[7][8][9] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[10] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[11]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[12][13][14] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[15] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[16] However, the generality of the model has not yet been established and, in some cases, is in doubt.[13][17][18] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[19]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[20][21] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[19][22] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[17][23][24][25] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[26]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[27] although the magnitude of this problem in genetic association studies is subject to debate.[28][29] Various methods have been developed to detect and account for population substructure,[30][31] but these methods can be difficult to apply in practice.[32]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[33][34][35][36] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[37][38]

The rest is here:

Medical genetics – Wikipedia

Genetic Medicine : Division Home | Department of Medicine

Advances in molecular biology and human genetics, coupled with the completion of the Human Genome Project and the increasing power of quantitative genetics to identify disease susceptibility genes, are contributing to a revolution in the practice of medicine. In the 21st century, practicing physicians will focus more on defining genetically determined disease susceptibility in individual patients. This strategy will be used to prevent, modify, and treat a wide array of common disorders that have unique heritable risk factors such as hypertension, obesity, diabetes, arthrosclerosis, and cancer.

The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease. The Division faculty work jointly with the Vanderbilt-Ingram Cancer Center to support the Hereditary Cancer Clinic for treating patients and families who have an inherited predisposition to various malignancies.

Genetic differences in humans at the molecular level not only contribute to the disease process but also significantly impact an individuals ability to respond optimally to drug therapy. Vanderbilt is a pioneer in precisely identifying genetic differences between patients and making rational treatment decisions at the bedside.

See the article here:

Genetic Medicine : Division Home | Department of Medicine

Genetic Medicine | Internal Medicine | Michigan Medicine …

Goutham Narla, MD, PhD, Chief, Division of Genetic Medicine

As use of genomic technologies continue to increase in research and clinical settings, the Division of Genetic Medicine serves a key role in bringing together basic, clinical, and translational expertise in genomic medicine, with multidisciplinary faculty comprised of MDs, PhD scientists, and genetic counselors. Demand for expertise in genetics continues to increase, and the Division of Genetic Medicine is committed to advancing scientific discovery and clinical care of patients.

In addition to our Medical Genetics Clinic, genetics services are available through several other Michigan Medicine clinics and programs, including the Breast and Ovarian Cancer Risk Evaluation Program, Cancer GeneticsClinic,Inherited Cardiomyopathies and Arrhythmias Program,Neurogenetics Clinic, Pediatric Genetics Clinic, and Prenatal Evaluation Clinic.

Our faculty are focused on various research areas including cancer genetics, inherited hematologic disorders, neural stem cells,the mechanisms and regulation of DNA repair processes in mammalian cells, predictive genetic testing,understanding the mechanisms controlled by Hox genes, birth defects, bleeding and thrombotic disorders, and human limb malformations.

Division of Genetic Medicinefaculty are actively engaged in the education, teaching, and mentorship of clinicians, and clinical and basic scientists, including undergraduate and graduate students, medical students, residents, and fellows from various subspecialties.

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Genetic Medicine | Internal Medicine | Michigan Medicine …

Genetic Medicine | List of High Impact Articles | PPts …

Genetic medicine is the integration and application of genomic technologies allows biomedical researchers and clinicians to collect data from large study population and to understand disease and genetic bases of drug response. It includes genome structure, functional genomics, epigenomics, genome scale population genomics, systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environment enabling researchers to explore new relationships between disease susceptibility and human genetics. The Division of Genetic Medicine was established to host both research and clinical research programs focused on the genetic basis of health and disease. Equipped with state-of-the-art research tools and facilities, our faculty members are advancing knowledge of the common genetic determinants of cancer, congenital neuropathies, and heart disease.

Related Journals of Genetic Medicine

Cellular & Molecular Medicine, Translational Biomedicine, Biochemistry & Molecular Biology Journal, Cellular & Molecular Medicine, Electronic Journal of Biology, Molecular Enzymology and Drug Targets, Journal of Applied Genetics, Journal of Medical Genetics, Genetics in Medicine, Journal of Anti-Aging Medicine, Reproductive Medicine and Biology, Romanian journal of internal medicine

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Genetic Medicine | List of High Impact Articles | PPts …

Genomics and Medicine | NHGRI

It has often been estimated that it takes, on average, 17years to translate a novel research finding into routine clinical practice. This time lag is due to a combination of factors, including the need to validate research findings, the fact that clinical trials are complex and take time to conduct and then analyze, and because disseminating information and educating healthcare workers about a new advance is not an overnight process.

Once sufficient evidence has been generated to demonstrate a benefit to patients, or “clinical utility,” professional societies and clinical standards groups will use that evidence to determine whether to incorporate the new test into clinical practice guidelines. This determination will also factor in any potential ethical and legal issues, as well economic factors such as cost-benefit ratios.

The NHGRIGenomic Medicine Working Group(GMWG) has been gathering expert stakeholders in a series of genomic medicine meetingsto discuss issues surrounding the adoption of genomic medicine. Particularly, the GMWG draws expertise from researchers at the cutting edge of this new medical toolset, with the aim of better informing future translational research at NHGRI. Additionally the working group provides guidance to theNational Advisory Council on Human Genome Research (NACHGR)and NHGRI in other areas of genomic medicine implementation, such as outlining infrastructural needs for adoption of genomic medicine, identifying related efforts for future collaborations, and reviewing progress overall in genomic medicine implementation.

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Genomics and Medicine | NHGRI


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