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An AI Conference Refusing a Name Change Highlights a Tech Industry Problem

Name Game

There’s a prominent artificial intelligence conference that goes by the suggestive acronym NIPS, which stands for “Neural Information Processing Systems.”

After receiving complaints that the acronym was alienating to women, the conference’s leadership collected suggestions for a new name via an online poll, according to WIRED. But the conference announced Monday that it would be sticking with NIPS all the same.

Knock It Off

It’s convenient to imagine that this acronym just sort of emerged by coincidence, but let’s not indulge in that particular fantasy.

It’s more likely that tech geeks cackled maniacally when they came up with the acronym, and the refusal to do better even when people looking up the conference in good faith are bombarded with porn is a particularly telling failure of the AI research community.

Small Things Matter

This problem goes far beyond a silly name — women are severely underrepresented in technology research and even more so when it comes to artificial intelligence. And if human decency — comforting those who are regularly alienated by the powers that be — isn’t enough of a reason to challenge the sexist culture embedded in tech research, just think about what we miss out on.

True progress in artificial intelligence cannot happen without a broad range of diverse voices — voices that are silenced by “locker room talk” among an old boy’s club. Otherwise, our technological development will become just as stuck in place as our cultural development often seems to be.

READ MORE: AI RESEARCHERS FIGHT OVER FOUR LETTERS: NIPS [WIRED]

More on Silicon Valley sexism: The Tech Industry’s Gender Problem Isn’t Just Hurting Women

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An AI Conference Refusing a Name Change Highlights a Tech Industry Problem

Scientists Are Hopeful AI Could Help Predict Earthquakes

Quake Rate

Earlier this year, I interviewed U.S. Geological Survey geologist Annemarie Baltay for a story about why it’s incredibly difficult to predict earthquakes.

“We don’t use that ‘p word’ — ‘predict’ — at all,” she told me. “Earthquakes are chaotic. We don’t know when or where they’ll occur.”

Neural Earthwork

That could finally be starting to change, according to a fascinating feature in The New York Times.

By feeding seismic data into a neural network — a type of artificial intelligence that learns to recognize patterns by scrutinizing examples — researchers say they can now predict moments after a quake strikes how far its aftershocks will travel.

And eventually, some believe, they’ll be able to listen to signals from fault lines and predict when an earthquake will strike in the first place.

Future Vision

But like Baltay, some researchers aren’t convinced we’ll ever be able to predict earthquakes.University of Tokyo seismologist Robert Geller told the Times that until an algorithm actually predicts an upcoming quake, he’ll remain skeptical.

“There are no shortcuts,” he said. “If you cannot predict the future, then your hypothesis is wrong.”

READ MORE: A.I. Is Helping Scientist Predict When and Where the Next Big Earthquake Will Be [The New York Times]

More on earthquake AI: A New AI Detected 17 Times More Earthquakes Than Traditional Methods

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Scientists Are Hopeful AI Could Help Predict Earthquakes

A Stem Cell Transplant Let a Wheelchair-Bound Man Dance Again

Stand Up Guy

For 10 years, Roy Palmer had no feeling in his lower extremities. Two days after receiving a stem cell transplant, he cried tears of joy because he could feel a cramp in his leg.

The technical term for the procedure the British man underwent is hematopoietic stem cell transplantation (HSCT). And while risky, it’s offering new hope to people like Palmer, who found himself wheelchair-bound after multiple sclerosis (MS) caused his immune system to attack his nerves’ protective coverings.

Biological Reboot

Ever hear the IT troubleshooting go-to of turning a system off and on again to fix it? The HSCT process is similar, but instead of a computer, doctors attempt to reboot a patient’s immune system.

To do this, they first remove stem cells from the patient’s body. Then the patient undergoes chemotherapy, which kills the rest of their immune system. After that, the doctors use the extracted stem cells to reboot the patient’s immune system.

It took just two days for the treatment to restore some of the feeling in Palmer’s legs. Eventually, he was able to walk on his own and even dance. He told the BBC in a recent interview that he now feels like he has a second chance at life.

“We went on holiday, not so long ago, to Turkey. I walked on the beach,” said Palmer. “Little things like that, people do not realize what it means to me.”

Risk / Reward

Still, HSCT isn’t some miracle cure for MS. Though it worked for Palmer, that’s not always the case, and HSCT can also cause infections and infertility. The National MS Society still considers HSCT to be an experimental treatment, and the Food and Drug Administration has yet to approve the therapy in the U.S.

However, MS affects more than 2.3 million people, and if a stem cell transplant can help even some of those folks the way it helped Palmer, it’s a therapy worth exploring.

READ MORE: Walking Again After Ten Years With MS [BBC]

More on HCST: New Breakthrough Treatment Could “Reverse Disability” for MS Patients

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A Stem Cell Transplant Let a Wheelchair-Bound Man Dance Again

These Bacteria Digest Food Waste Into Biodegradable Plastic

Factory Farm

Plastics have revolutionized manufacturing, but they’re still terrible for the environment.

Manufacturing plastics is an energy-intensive slog that ends in mountains of toxic industrial waste and greenhouse gas emissions. And then the plastic itself that we use ends up sitting in a garbage heap for thousands of years before it biodegrades.

Scientists have spent years investigating ways to manufacture plastics without ruining the planet, and a Toronto biotech startup called Genecis says it’s found a good answer: factories where vats of bacteria digest food waste and use it to form biodegradable plastic in their tiny microbial guts.

One-Two Punch

The plastic-pooping bacteria stand to clean up several kinds of pollution while churning out usable materials, according to Genecis.

That’s because the microbes feed on waste food or other organic materials — waste that CBC reported gives off 20 percent of Canada’s methane emissions as it sits in landfills.

Then What?

The plastic that the little buggers produce isn’t anything new. It’s called PHA and it’s used in anything that needs to biodegrade quickly, like those self-dissolving stitches. What’s new here is that food waste is much cheaper than the raw materials that usually go into plastics, leading Genecis to suspect it can make the same plastics for 40 percent less cost.

There are a lot of buzzworthy new alternative materials out there, but with a clear environmental and financial benefit, it’s possible these little bacteria factories might be here to stay.

READ MORE: Greener coffee pods? Bacteria help turn food waste into compostable plastic [CBC]

More on cleaning up plastics: The EU Just Voted to Completely ban Single-Use Plastics

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These Bacteria Digest Food Waste Into Biodegradable Plastic

You Can Now Preorder a $150,000 Hoverbike

Please, Santa?

It’s never too early to start writing your Christmas wish list, right? Because we know what’s now at the top of ours: a hoverbike.

We’ve had our eyes on Hoversurf’s Scorpion-3 since early last year — but now, the Russian drone start-up is accepting preorders on an updated version of the vehicle.

Flying Bike

The S3 2019 is part motorcycle and part quadcopter. According to the Hoversurf website, the battery-powered vehicle weighs 253 pounds and has a flight time of 10 to 25 minutes depending on operator weight. Its maximum legal speed is 60 mph — though as for how fast the craft can actually move, that’s unknown. Hoversurf also notes that the vehicle’s “safe flight altitude” is 16 feet, but again, we aren’t sure how high it can actually soar.

What we do know: The four blades that provide S3 with its lift spin at shin level, and while this certainly looks like it would be a safety hazard, the U.S. Department of Transportation’s Federal Aviation Administration approved the craft for legal use as an ultralight vehicle in September.

That means you can only operate an S3 for recreational or sports purposes — but you can’t cruise to work on your morning commute.

Plummeting Bank Account

You don’t need a pilot’s license to operate an S3, but you will need a decent amount of disposable income — the Star Wars-esque craft will set you back $150,000.

If that number doesn’t cause your eyes to cross, go ahead and slap down the $10,000 deposit needed to claim a spot in the reservation queue. You’ll then receive an email when it’s time to to place your order. You can expect to receive your S3 2019 two to six months after that, according to the company website.

That means there’s a pretty good chance you won’t be able to hover around your front yard this Christmas morning, but a 2019 jaunt is a genuine possibility.

READ MORE: For $150,000 You Can Now Order Your Own Hoverbike [New Atlas]

More on Hoversurf: Watch the World’s First Rideable Hoverbike in Flight

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You Can Now Preorder a $150,000 Hoverbike

WHO Director: Air Pollution Is the “New Tobacco”

Wrong Direction

Breathing polluted air is as likely to kill you as tobacco use — worldwide, each kills about 7 million people annually. But while the world is making progress in the war against tobacco, air pollution is getting worse.

The Director General of the World Health Organization (WHO) hopes to change that.

“The world has turned the corner on tobacco,” wrote Tedros Adhanom Ghebreyesus in an opinion piece published by The Guardian on Saturday. “Now it must do the same for the ‘new tobacco’ — the toxic air that billions breathe every day.”

Taking Action

According to the WHO, nine out of 10 people in the world breathe polluted air.

This week, the organization is hosting the first Global Conference on Air Pollution and Health, and Ghebreyesus is hopeful world leaders will use the conference as the opportunity to commit to cutting air pollution in their nations.

“Despite the overwhelming evidence, political action is still urgently needed to boost investments and speed up action to reduce air pollution,” he wrote, noting that this action could take the form of more stringent air quality standards, improved access to clean energy, or increased investment in green technologies.

Reduced Risk

The impact sustained action against air pollution could have on public health is hard to overstate.

“No one, rich or poor, can escape air pollution. A clean and healthy environment is the single most important precondition for ensuring good health,” wrote Ghebreyesus in his Guardian piece. “By cleaning up the air we breathe, we can prevent or at least reduce some of the greatest health risks.”

The conference ends on Thursday, so we won’t have to wait long to see which nations do — or don’t — heed the WHO’s call to action.

READ MORE: Air Pollution Is the New Tobacco. Time to Tackle This Epidemic [The Guardian]

More on air pollution: Dumber Humans — That’s Just One Effect of a More Polluted Future

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WHO Director: Air Pollution Is the “New Tobacco”

Scientists May Have Put Microbes in a State of Quantum Entanglement

Hall of Mirrors

A few years ago, the journal Small published a study showing how photosynthetic bacteria could absorb and release photons as the light bounced across a minuscule gap between two mirrors.

Now, a retroactive look at the study’s data published in The Journal of Physics Communications suggests something more may have been going on. The bacteria may have been the first living organisms to operate in the realm of quantum physics, becoming entangled with the bouncing light at the quantum scale.

Cat’s Cradle

The experiment in question, as described by Scientific American, involved individual photons — the smallest quantifiable unit of light that can behave like a tiny particle but also a wave of energy within quantum physics — bouncing between two mirrors separated by a microscopic distance.

But a look at the energy levels in the experimental setup suggests that the bacteria may have become entangled, as some individual photons seem to have simultaneously interacted with and missed the bacterium at the same time.

Super Position

There’s reason to be skeptical of these results until someone actually recreates the experiment while looking for signs of quantum interactions. As with any look back at an existing study, scientists are restricted to the amount and quality of data that was already published. And, as Scientific American noted, the energy levels of the bacteria and the mirror setup should have been recorded individually — which they were not — in order to verify quantum entanglement.

But if this research holds up, it would be the first time a life form operated on the realm of quantum physics, something usually limited to subatomic particles. And even though the microbes are small, that’s a big deal.

READ MORE“Schrödinger’s Bacterium” Could Be a Quantum Biology Milestone [Scientific American]

More on quantum physics: The World’s First Practical Quantum Computer May Be Just Five Years Away

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Scientists May Have Put Microbes in a State of Quantum Entanglement

There’s No Way China’s Artificial Moon Will Work, Says Expert

Good Luck

On October 10, a Chinese organization called the Tian Fu New Area Science Society revealed plans to replace the streetlights in the city of Chengdu with a satellite designed to reflect sunlight toward the Earth’s surface at night.

But in a new interview with Astronomy, an associate professor of aerospace engineering at the University of Texas at Austin named Ryan Russel argued that based on what he’s read, the artificial moon plan would be impossible to implement.

Promised the Moon

Wu Chunfeng, the head of the Tian Fu New Area Science Society, told China Daily the artificial moon would orbit about 310 miles above Earth, delivering an expected brightness humans would perceive to be about one-fifth that of a typical streetlight.

The plan is to launch one artificial moon in 2020 and then three more in 2022 if the first works as hoped. Together, these satellites could illuminate an area of up to 4,000 square miles, Chunfeng claims.

But Russell is far from convinced.

“Their claim for 1 [low-earth orbit satellite] at [300 miles] must be a typo or misinformed spokesperson,” he told Astronomy. “The article I read implied you could hover a satellite over a particular city, which of course is not possible.”

Overkill Overhead

To keep the satellite in place over Chengdu, it would need to be about 22,000 miles above the Earth’s surface, said Russel, and its reflective surface would need to be massive to reflect sunlight from that distance. At an altitude of just 300 miles, the satellite would quickly zip around the Earth, constantly illuminating new locations.

Even if the city could put the artificial moon plan into action, though, Russell isn’t convinced it should.

“It’s a very complicated solution that affects everyone to a simple problem that affects a few,” he told Astronomy. “It’s light pollution on steroids.”

Maybe Chengdu shouldn’t give up on its streetlights just yet.

READ MORE: Why China’s Artificial Moon Probably Won’t Work [Astronomy]

More on the artificial moon: A Chinese City Plans to Replace Its Streetlights With an Artificial Moon

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There’s No Way China’s Artificial Moon Will Work, Says Expert

Clean Coal Startup Turns Human Waste Into Earth-Friendly Fuel

Gold Nuggets

A company called Ingelia says it’s figured out a way to turn human waste — the solid kind — into a combustible material it’s calling biochar. And if Ingelia’s claims are accurate, biochar can be burned for fuel just like coalexcept with nearzero greenhouse gas emissions, according to Business Insider.

That’s because almost all of the pollutants and more harmful chemicals that would normally be given off while burning solid fuels is siphoned away into treatable liquid waste, leaving a dry, combustible rod of poop fuel.

“Clean Coal

Ingelia, which is currently working to strike a deal with Spanish waste management facilities, hopes to make enough biochar to replace 220 thousand tons of coal per year, corresponding to 500 thousand tons of carbon dioxide emissions.

But that’s by 2022, at which point we’ll have even less time to reach the urgent clean energy goals of that doomsday United Nations report. In an ideal world, we would have moved away from coal years ago. At least this gives us a viable alternative as we transition to other, renewable forms of electricity.

So while we can, in part, poop our way to a better world, biochar — and other new sewage-based energy sources — will only be one of many new world-saving sources of clean energy.

READ MORE: This Spanish company found a way to produce a fuel that emits no CO2 — and it’s made of sewage [Business Insider]

More on poop: Edible Tech is Finally Useful, is Here to Help you Poop

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Clean Coal Startup Turns Human Waste Into Earth-Friendly Fuel

Ford’s Self-Driving Cars Are About to Chauffeur Your Senator

Green-Light District

It doesn’t matter how advanced our self-driving cars get — if they aren’t allowed on roads, they aren’t going to save any lives.

The future of autonomous vehicles (AVs) in the U.S. depends on how lawmakers in Washington D.C. choose to regulate the vehicles. But until now, AV testing has largely taken place far from the nation’s capital, mostly in California and Arizona.

Ford is about to change that. The company just announced plans to be the first automaker to test its self-driving cars in the Distinct of Columbia — and how lawmakers feel about those vehicles could influence future AV legislation.

Career Day

Sherif Marakby, CEO of Ford Autonomous Vehicles, announced the decision to begin testing in D.C. via a blog post last week. According to Marakby, Ford’s politician-friendly focus will be on figuring out how its AVs could promote job creation in the District.

To that end, Ford plans to assess how AVs could increase mobility in D.C., thereby helping residents get to jobs that might otherwise be outside their reach, as well as train residents for future positions as AV technicians or operators.

Up Close and Personal

Marakby notes that D.C. is a particularly suitable location for this testing because the District is usually bustling with activity. The population increases significantly during the day as commuters arrive from the suburbs for work, while millions of people flock to D.C. each year for conferences or tourism.

D.C. is also home to the people responsible for crafting and passing AV legislation. “[I]t’s important that lawmakers see self-driving vehicles with their own eyes as we keep pushing for legislation that governs their safe use across the country,” Marakby wrote.

Ford’s ultimate goal is to launch a commercial AV service in D.C. in 2021. With this testing, the company has the opportunity to directly influence the people who could help it reach that goal — or oppose it.

READ MORE: A Monumental Moment: Our Self-Driving Business Development Expands to Washington, D.C. [Medium]

More on AV legislation: U.S. Senators Reveal the Six Principles They’ll Use to Regulate Self-Driving Vehicles

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Ford’s Self-Driving Cars Are About to Chauffeur Your Senator

This AI Lie Detector Flags Falsified Police Reports

Minority Report

Imagine this: You file a police report, but back at the station, they feed it into an algorithm — and it accuses you of lying, as though it had somehow looked inside your brain.

That might sound like science fiction, but Spain is currently rolling out a very similar program, called VeriPol, in many of its police stations. VeriPol’s creators say that when it flags a report as false, it turns out to be correct more than four-fifths of the time.

Lie Detector

VeriPol is the work of researchers at Cardiff University and Charles III University of Madrid.

In a paper published earlier this year in the journal Knowledge-Based Systems, they describe how they trained the lie detector with a data set of more than 1,000 robbery reports — including a number that police identified as false — to identify subtle signs that a report wasn’t true.

Thought Crime

In pilot studies in Murcia and Malaga, Quartz reported, further investigation showed that the algorithm was correct about 83 percent of the time that it suspected a report was false.

Still, the project raises uncomfortable questions about allowing algorithms to act as lie detectors. Fast Company reported earlier this year that authorities in the United States, Canada, and the European Union are testing a separate system called AVATAR that they want to use to collect biometric data about subjects at border crossings — and analyze it for signs that they’re not being truthful.

Maybe the real question isn’t whether the tech works, but whether we want to permit authorities to act upon what’s essentially a good — but not perfect — assumption that someone is lying.

READ MORE: Police Are Using Artificial Intelligence to Spot Written Lies [Quartz]

More on lie detectors: Stormy Daniels Took a Polygraph. What Do We Do With the Results?

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This AI Lie Detector Flags Falsified Police Reports

Maternalfetal medicine – Wikipedia

Maternalfetal medicine (MFM) (also known as perinatology) is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.

Maternalfetal medicine specialists are physicians who subspecialize within the field of obstetrics.[1] Their training typically includes a four-year residency in obstetrics and gynecology followed by a three-year fellowship. They may perform prenatal tests, provide treatments, and perform surgeries. They act both as a consultant during lower-risk pregnancies and as the primary obstetrician in especially high-risk pregnancies. After birth, they may work closely with pediatricians or neonatologists. For the mother, perinatologists assist with pre-existing health concerns, as well as complications caused by pregnancy.

Maternalfetal medicine began to emerge as a discipline in the 1960s. Advances in research and technology allowed physicians to diagnose and treat fetal complications in utero, whereas previously, obstetricians could only rely on heart rate monitoring and maternal reports of fetal movement. The development of amniocentesis in 1952, fetal blood sampling during labor in the early 1960s, more precise fetal heart monitoring in 1968, and real-time ultrasound in 1971 resulted in early intervention and lower mortality rates.[2] In 1963, Albert William Liley developed a course of intrauterine transfusions for Rh incompatibility at the National Women’s Hospital in Australia, regarded as the first fetal treatment.[3] Other antenatal treatments, such as the administration of glucocorticoids to speed lung maturation in neonates at risk for respiratory distress syndrome, led to improved outcomes for premature infants.

Consequently, organizations were developed to focus on these emerging medical practices, and in 1991, the First International Congress of Perinatal Medicine was held, at which the World Association of Perinatal Medicine was founded.[2]

Today, maternal-fetal medicine specialists can be found in major hospitals internationally. They may work in privately owned clinics, or in larger, government-funded institutions.[4][5]

The field of maternal-fetal medicine is one of the most rapidly evolving fields in medicine, especially with respect to the fetus. Research is being carried on in the field of fetal gene and stem cell therapy in hope to provide early treatment for genetic disorders,[6] open fetal surgery for the correction of birth defects like congenital heart disease,[7] and the prevention of preeclampsia.

Maternalfetal medicine specialists attend to patients who fall within certain levels of maternal care. These levels correspond to health risks for the baby, mother, or both, during pregnancy.[8]

They take care of pregnant women who have chronic conditions (e.g. heart or kidney disease, hypertension, diabetes, and thrombophilia), pregnant women who are at risk for pregnancy-related complications (e.g. preterm labor, pre-eclampsia, and twin or triplet pregnancies), and pregnant women with fetuses at risk. Fetuses may be at risk due to chromosomal or congenital abnormalities, maternal disease, infections, genetic diseases and growth restriction.[9]

Expecting mothers with chronic conditions, such as high blood pressure, drug use during or before pregnancy, or a diagnosed medical condition may require a consult with a maternal-fetal specialist. In addition, women who experience difficulty conceiving may be referred to a maternal-fetal specialist for assistance.

During pregnancy, a variety of complications of pregnancy can arise. Depending on the severity of the complication, a maternal-fetal specialist may meet with the patient intermittently, or become the primary obstetrician for the length of the pregnancy. Post-partum, maternal-fetal specialists may follow up with a patient and monitor any medical complications that may arise.

The rates of maternal and infant mortality due to complications of pregnancy have decreased by over 23% since 1990, from 377,000 deaths to 293,000 deaths. Most deaths can be attributed to infection, maternal bleeding, and obstructed labor, and their incidence of mortality vary widely internationally.[10] The Society for Maternal-fetal Medicine (SMFM) strives to improve maternal and child outcomes by standards of prevention, diagnosis and treatment through research, education and training.[11]

Maternalfetal medicine specialists are obstetrician-gynecologists who undergo an additional 3 years of specialized training in the assessment and management of high-risk pregnancies. In the United States, such obstetrician-gynecologists are certified by the American Board of Obstetrician Gynecologists (ABOG) or the American Osteopathic Board of Obstetrics and Gynecology.

Maternalfetal medicine specialists have training in obstetric ultrasound, invasive prenatal diagnosis using amniocentesis and chorionic villus sampling, and the management of high-risk pregnancies. Some are further trained in the field of fetal diagnosis and prenatal therapy where they become competent in advanced procedures such as targeted fetal assessment using ultrasound and Doppler, fetal blood sampling and transfusion, fetoscopy, and open fetal surgery.[12][13]

For the ABOG, MFM subspecialists are required to do a minimum of 12 months in clinical rotation and 18-months in research activities. They are encouraged to use simulation and case-based learning incorporated in their training, a certification in advanced cardiac life support (ACLS) is required, they are required to develop in-service examination and expand leadership training. Obstetrical care and service has been improved to provide academic advancement for MFM in-patient directorships, improve skills in coding and reimbursement for maternal care, establish national, stratified system for levels of maternal care, develop specific, proscriptive guidelines on complications with highest maternal morbidity and mortality, and finally, increase departmental and divisional support for MFM subspecialists with maternal focus. As Maternalfetal medicine subspecialists improve their work ethics and knowledge of this advancing field, they are capable of reducing the rate of maternal mortality and maternal morbidity.[14]

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Maternalfetal medicine – 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.

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, physicians 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”. 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”, or “C”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.

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

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.

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Genetic Medicine : Division Home | Department of Medicine

J Genet Med – e-kjgm.org

Review ArticleClinical significance of sonographic soft markers: A reviewMi Sun Kim, Sukho Kang, and Hee Young Cho

Journal of Genetic Medicine 2018;15:1-7

Journal of Genetic Medicine 2018;15:8-12

Journal of Genetic Medicine 2018;15:13-16

Journal of Genetic Medicine 2018;15:17-19

Journal of Genetic Medicine 2018;15:20-23

Journal of Genetic Medicine 2018;15:24-27

Journal of Genetic Medicine 2018;15:28-33

Journal of Genetic Medicine 2018;15:34-37

Journal of Genetic Medicine 2018;15:38-42

Journal of Genetic Medicine 2018;15:43-47

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J Genet Med – e-kjgm.org

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 – University of Chicago – Department of …

Yoav Gilad, PhD

Chief, Section of Genetic Medicine

University of ChicagoDepartment of Medicine

The Section of Genetic Medicine was created over 10 years ago to both build research infrastructure in genetics within the Department of Medicine and to focus translational efforts related to genetics. As a result, the Section of Genetic Medicine is shaping the future of precision medicine with very active and successful research programs focused on the quantitative genetics, systems biology and genomics, and bioinformatics and computational biology. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine continues to shape the future of personalized medicine with successful research programs focused on the quantitative genetic and genomic science. The Section provides extremely valuable collaborations with investigators in the Department of Medicine who are seeking to develop new and more powerful ways to identify genetic risk factors for common, complex disorders with almost immediate clinical application.

The Section of Genetic Medicine conducts impactful investigations focused on quantitative genetics, systems biology and genomics, bioinformatics and computational biology. Some highlights from the past year include:

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Genetic Medicine – University of Chicago – Department of …

Maternalfetal medicine – Wikipedia

Maternalfetal medicine (MFM) (also known as perinatology) is a branch of medicine that focuses on managing health concerns of the mother and fetus prior to, during, and shortly after pregnancy.

Maternalfetal medicine specialists are physicians who subspecialize within the field of obstetrics.[1] Their training typically includes a four-year residency in obstetrics and gynecology followed by a three-year fellowship. They may perform prenatal tests, provide treatments, and perform surgeries. They act both as a consultant during lower-risk pregnancies and as the primary obstetrician in especially high-risk pregnancies. After birth, they may work closely with pediatricians or neonatologists. For the mother, perinatologists assist with pre-existing health concerns, as well as complications caused by pregnancy.

Maternalfetal medicine began to emerge as a discipline in the 1960s. Advances in research and technology allowed physicians to diagnose and treat fetal complications in utero, whereas previously, obstetricians could only rely on heart rate monitoring and maternal reports of fetal movement. The development of amniocentesis in 1952, fetal blood sampling during labor in the early 1960s, more precise fetal heart monitoring in 1968, and real-time ultrasound in 1971 resulted in early intervention and lower mortality rates.[2] In 1963, Albert William Liley developed a course of intrauterine transfusions for Rh incompatibility at the National Women’s Hospital in Australia, regarded as the first fetal treatment.[3] Other antenatal treatments, such as the administration of glucocorticoids to speed lung maturation in neonates at risk for respiratory distress syndrome, led to improved outcomes for premature infants.

Consequently, organizations were developed to focus on these emerging medical practices, and in 1991, the First International Congress of Perinatal Medicine was held, at which the World Association of Perinatal Medicine was founded.[2]

Today, maternal-fetal medicine specialists can be found in major hospitals internationally. They may work in privately owned clinics, or in larger, government-funded institutions.[4][5]

The field of maternal-fetal medicine is one of the most rapidly evolving fields in medicine, especially with respect to the fetus. Research is being carried on in the field of fetal gene and stem cell therapy in hope to provide early treatment for genetic disorders,[6] open fetal surgery for the correction of birth defects like congenital heart disease,[7] and the prevention of preeclampsia.

Maternalfetal medicine specialists attend to patients who fall within certain levels of maternal care. These levels correspond to health risks for the baby, mother, or both, during pregnancy.[8]

They take care of pregnant women who have chronic conditions (e.g. heart or kidney disease, hypertension, diabetes, and thrombophilia), pregnant women who are at risk for pregnancy-related complications (e.g. preterm labor, pre-eclampsia, and twin or triplet pregnancies), and pregnant women with fetuses at risk. Fetuses may be at risk due to chromosomal or congenital abnormalities, maternal disease, infections, genetic diseases and growth restriction.[9]

Expecting mothers with chronic conditions, such as high blood pressure, drug use during or before pregnancy, or a diagnosed medical condition may require a consult with a maternal-fetal specialist. In addition, women who experience difficulty conceiving may be referred to a maternal-fetal specialist for assistance.

During pregnancy, a variety of complications of pregnancy can arise. Depending on the severity of the complication, a maternal-fetal specialist may meet with the patient intermittently, or become the primary obstetrician for the length of the pregnancy. Post-partum, maternal-fetal specialists may follow up with a patient and monitor any medical complications that may arise.

The rates of maternal and infant mortality due to complications of pregnancy have decreased by over 23% since 1990, from 377,000 deaths to 293,000 deaths. Most deaths can be attributed to infection, maternal bleeding, and obstructed labor, and their incidence of mortality vary widely internationally.[10] The Society for Maternal-fetal Medicine (SMFM) strives to improve maternal and child outcomes by standards of prevention, diagnosis and treatment through research, education and training.[11]

Maternalfetal medicine specialists are obstetrician-gynecologists who undergo an additional 3 years of specialized training in the assessment and management of high-risk pregnancies. In the United States, such obstetrician-gynecologists are certified by the American Board of Obstetrician Gynecologists (ABOG) or the American Osteopathic Board of Obstetrics and Gynecology.

Maternalfetal medicine specialists have training in obstetric ultrasound, invasive prenatal diagnosis using amniocentesis and chorionic villus sampling, and the management of high-risk pregnancies. Some are further trained in the field of fetal diagnosis and prenatal therapy where they become competent in advanced procedures such as targeted fetal assessment using ultrasound and Doppler, fetal blood sampling and transfusion, fetoscopy, and open fetal surgery.[12][13]

For the ABOG, MFM subspecialists are required to do a minimum of 12 months in clinical rotation and 18-months in research activities. They are encouraged to use simulation and case-based learning incorporated in their training, a certification in advanced cardiac life support (ACLS) is required, they are required to develop in-service examination and expand leadership training. Obstetrical care and service has been improved to provide academic advancement for MFM in-patient directorships, improve skills in coding and reimbursement for maternal care, establish national, stratified system for levels of maternal care, develop specific, proscriptive guidelines on complications with highest maternal morbidity and mortality, and finally, increase departmental and divisional support for MFM subspecialists with maternal focus. As Maternalfetal medicine subspecialists improve their work ethics and knowledge of this advancing field, they are capable of reducing the rate of maternal mortality and maternal morbidity.[14]

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Maternalfetal medicine – 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.

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, physicians 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”. 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”, or “C”. Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme.

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

About the Fred A. Litwin Family Centre in Genetic Medicine

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About the Fred A. Litwin Family Centre in Genetic Medicine


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