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

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

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 recent highlights include:

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Genetic Medicine University of Chicago Department of …

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 …

The Israeli Moon Lander Is About to Touch Down

SpaceIL's Moon lander, Beresheet, is expected to touch down on the lunar surface on Thursday, landing Israeli a place in the history books.

Lunar Lander

If all goes according to plan, Israel will earn a place in history on Thursday as the fourth nation ever to land a spacecraft on the Moon — and unlike any craft that came before it, this Moon lander was privately funded.

Beresheet is the work of SpaceIL, a nonprofit Israeli space company. On Feb. 21, the company launched its $100 million spacecraft on a journey to the Moon aboard a SpaceX Falcon 9 rocket, and on April 4, it settled into the Moon’s orbit.

The next step in the mission is for Beresheet to attempt to land on the surface of the Moon sometime between 3 and 4 p.m. ET on Thursday.

Watch Along

Beresheet’s target landing site is in the northeastern part of Mare Serenitatis, also known as the Sea of Serenity.

“On the basis of our experience with Apollo, the Serenitatis sites favor both landing safety and scientific reward,” SpaceIL team member Jim Head said in a press release.

SpaceIL and Israel Aerospace Industries, the company that built Beresheet, will live-stream Thursday’s touch-down attempt, so the world will have a chance to watch along as Israel tries to land itself a spot in the history books.

READ MORE: Israel’s Beresheet space probe prepares for historic moon landing [NBC News]

More on Beresheet: Israel’s Moon Lander Just Got Photobombed by the Earth

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The Israeli Moon Lander Is About to Touch Down

Some People Are Exceptionally Good at Predicting the Future

Some people are adept at forecasting, predicting the likelihood of future events, and a new contest aims to suss them out.

Super-Forecasters

Some people have a knack for accurately predicting the likelihood of future events. You might even be one of these “super-forecasters” and not know it — but now there’s an easy way to find out.

BBC Future has teamed up with UK-based charity Nesta and forecasting services organization Good Judgement on the “You Predict the Future” challenge. The purpose is to study how individuals and teams predict the likelihood of certain events, ranging from the technological to the geopolitical.

All Winners

Anyone interested in testing their own forecasting skills can sign up for the challenge to answer a series of multiple-choice questions and assign a percentage to how likely each answer is to come true.

“When you’re part of the challenge, you’ll get feedback on how accurate your forecasts are,” Kathy Peach, who leads Nesta’s Centre for Collective Intelligence Design, told BBC Future. “You’ll be able to see how well you do compared to other forecasters. And there’s a leader board, which shows who the best performing forecasters are.”

Collective Intelligence

You’ll also be helping advance research on collective intelligence, which focuses on the intellectual abilities of groups of people acting as one.

Additionally, as Peach told BBC Future, “New research shows that forecasting increases open-mindedness, the ability to consider alternative scenarios, and reduces political polarisation,”  — meaning even if you don’t find out you’re a “super-forecaster,” you might just end up a better person after making your predictions.

READ MORE: Could you be a super-forecaster? [BBC Future]

More on forecasting: Forecasting the Future: Can the Hive Mind Let Us Predict the Future?

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Some People Are Exceptionally Good at Predicting the Future

Scientists Find a New Way to Kickstart Stable Fusion Reactions

A new technique for nuclear fusion can generate plasma without requiring as much space-consuming equipment within a reactor.

Warm Fusion

Scientists from the Princeton Plasma Physics Laboratory say that they’ve found a new way to start up nuclear fusion reactions.

The new technique, described in research published last month in the journal Physics of Plasmas, provides an alternate means for reactors to convert gas into the superhot plasma that gets fusion reactions going with less equipment taking up valuable lab space — another step in the long road to practical fusion power.

Out With The Old

Right in the center of a tokamak, a common type of experimental nuclear fusion reactor, there’s a large central magnet that helps generate plasma. The new technique, called “transient coaxial helical injection,” does away with the magnet but still generates a stable reaction, freeing up the space taken up by the magnet for other equipment.

“The good news from this study,” Max Planck Institute researcher Kenneth Hammond said in a press release, “is that the projections for startup in large-scale devices look promising.”

READ MORE: Ready, set, go: Scientists evaluate novel technique for firing up fusion-reaction fuel [Princeton Plasma Physics Laboratory newsroom via ScienceDaily]

More on nuclear fusion: Scientists Found a New Way to Make Fusion Reactors More Efficient

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Scientists Find a New Way to Kickstart Stable Fusion Reactions

Amazon Workers Listen to Your Alexa Conversations, Then Mock Them

A new Bloomberg piece shared the experiences of Amazon workers tasked with listening to Alexa recordings, and what they hear isn't always mundane.

I Hear You

Amazon pays thousands of workers across the globe to review audio picked up by its Echo speakers — and their behavior raises serious concerns about both privacy and safety.

Bloomberg recently spoke with seven people who participated in Amazon’s audio review process. Each worker was tasked with listening to, transcribing, and annotating voice recordings with the goal of improving the ability of Amazon’s Alexa smart assistant to understand and respond to human speech.

But sometimes, according to Bloomberg, they share private recordings in a disrespectful way.

“I think we’ve been conditioned to the [assumption] that these machines are just doing magic machine learning” University of Michigan professor Florian Schaub told Bloomberg. “But the fact is there is still manual processing involved.”

Listen to This

The job is usually boring, according to Bloomberg’s sources. But if they heard something out of the ordinary, they said, sometimes they’d share the Alexa recordings with other workers via internal chat rooms.

Occasionally, it was just because they found the audio amusing — a person singing off-key, for example — but other times, the sharing was “a way of relieving stress” after hearing something disturbing, such as when two of Bloomberg’s sources heard what sounded like a sexual assault.

When they asked Amazon how to handle cases like the latter, the workers said they were told “it wasn’t Amazon’s job to interfere.” Amazon, meanwhile, said it had procedures in place for when workers hear something “distressing” in Alexa recordings.

READ MORE: Amazon Workers Are Listening to What You Tell Alexa [Bloomberg]

More on Echo: Thanks, Amazon! Echo Recorded and Sent Audio to Random Contacts Without Warning

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Scientists Say New Quantum Material Could “‘Download’ Your Brain”

A new type of quantum material can directly measure neural activity and translate it into electrical signals for a computer.

Computer Brain

Scientists say they’ve developed a new “quantum material” that could one day transfer information directly from human brains to a computer.

The research is in early stages, but it invokes ideas like uploading brains to the cloud or hooking people up to a computer to track deep health metrics — concepts that until now existed solely in science fiction.

Quantum Interface

The new quantum material, described in research published Wednesday in the journal Nature Communications, is a “nickelate lattice” that the scientists say could directly translate the brain’s electrochemical signals into electrical activity that could be interpreted by a computer.

“We can confidently say that this material is a potential pathway to building a computing device that would store and transfer memories,” Purdue University engineer Shriram Ramanathan told ScienceBlog.

Running Diagnostics

Right now, the new material can only detect the activity of some neurotransmitters — so we can’t yet upload a whole brain or anything like that. But if the tech progresses, the researchers hypothesize that it could be used to detect neurological diseases, or perhaps even store memories.

“Imagine putting an electronic device in the brain, so that when natural brain functions start deteriorating, a person could still retrieve memories from that device,” Ramanathan said.

READ MORE: New Quantum Material Could Warn Of Neurological Disease [ScienceBlog]

More on brain-computer interface: This Neural Implant Accesses Your Brain Through the Jugular Vein

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Infertile Couple Gives Birth to “Three-Parent Baby”

A Greek couple just gave birth to a three-parent baby, the first conceived as part of a clinical trial to treat infertility.

Happy Birthday

On Tuesday, a couple gave birth to what researchers are calling a “three-parent baby” — giving new hope to infertile couples across the globe.

After four cycles of in vitro fertilization failed to result in a pregnancy, the Greek couple enrolled in a clinical trial for mitochondrial replacement therapy (MRT) — meaning doctors placed the nucleus from the mother’s egg into a donor egg that had its nucleus removed. Then they fertilized the egg with sperm from the father and implanted it into the mother.

Due to this procedure, the six-pound baby boy has DNA from both his mother and father, as well as a tiny bit from the woman who donated the egg.

Greek Life

The Greek baby wasn’t the first “three-parent baby” born after his parents underwent MRT — that honor goes to the offspring of a Jordanian woman who gave birth in 2016.

However, in her case and others that followed it, doctors used the technique to prevent a baby from inheriting a parent’s genetic defect. This marked the first time a couple used MRT as part of a clinical trial to treat infertility.

“Our excellent collaboration and this exceptional result will help countless women to realise their dream of becoming mothers with their own genetic material,” Nuno Costa-Borges, co-founder of Embryotools, one of the companies behind the trial, said in a statement.

READ MORE: Baby with DNA from three people born in Greece [The Guardian]

More on three-parent babies: An Infertile Couple Is Now Pregnant With a “Three-Parent Baby”

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MIT Prof: If We Live in a Simulation, Are We Players or NPCs?

An MIT scientist asks whether we're protagonists in a simulated reality or so-called NPCs who exist to round out a player character's experience. 

Simulation Hypothesis

Futurism readers may recognize Rizwan Virk as the MIT researcher touting a new book arguing that we’re likely living in a game-like computer simulation.

Now, in new interview with Vox, Virk goes even further — by probing whether we’re protagonists in the simulation or so-called “non-player characters” who are presumably included to round out a player character’s experience.

Great Simulation

Virk speculated about whether we’re players or side characters when Vox writer Sean Illing asked a question likely pondered by anyone who’s seen “The Matrix”: If you were living in a simulation, would you actually want to know?

“Probably the most important question related to this is whether we are NPCs (non-player characters) or PCs (player characters) in the video game,” Virk told Vox. “If we are PCs, then that means we are just playing a character inside the video game of life, which I call the Great Simulation.”

More Frightening

It’s a line of inquiry that cuts to the core of the simulation hypothesis: If the universe is essentially a video game, who built it — and why?

“The question is, are all of us NPCs in a simulation, and what is the purpose of that simulation?” Virk asked. “A knowledge of the fact that we’re in a simulation, and the goals of the simulation and the goals of our character, I think, would still be interesting to many people.”

READ MORE: Are we living in a computer simulation? I don’t know. Probably. [Vox]

More on the simulation hypothesis: Famous Hacker Thinks We’re Living in Simulation, Wants to Escape

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Here’s How Big the M87 Black Hole Is Compared to the Earth

The black hole that scientists imaged is a stellar giant. It would take millions of Earths lined up side-by-side to span its length.

Pale Black Dot

On Wednesday, a team of scientists from around the world released the first ever directly-observed image of the event horizon of a black hole.

The black hole, M87*, is found within the constellation Virgo — and as the webcomic XKCD illustrated, it’s as big as our entire solar system.

Stellar Giant

The gigantic black hole, not counting the giant rings of trapped light orbiting it, is about 23.6 billion miles (38 billion kilometers) across, according to Science News.

Meanwhile, the Earth is just 7,917 miles in diameter — meaning our planet wouldn’t even be a drop in the bucket of the giant, black void. Based Futurism’s calculations, it would take just over 2.98 million Earths lined up in a row to span the length of M87*. For a sense of scale, that’s about how many adult giraffes it would take to span the diameter of Earth.

Paging Pluto

Our entire solar system is just about 2.27 billion miles wide, meaning we could just barely fit the whole thing into the newly-imaged black hole’s event horizon.

Thankfully, M87* is about 55 million light years away — so while we could readily fit inside its gaping maw, we’re way too far to get sucked in.

READ MORE: Revealed: a black hole the size of the solar system [Cosmos]

More on M87*: Scientists: Next Black Whole Image Will Be Way Clearer

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NASA Is Funding the Development of 18 Bizarre New Projects

Through the NASA Innovative Advanced Concepts (NIAC) program, NASA funds projects that go

Nurturing the Bizarre

NASA isn’t afraid to take a chance on the weird. In fact, it has a program designed for that specific purpose, called NASA Innovative Advanced Concepts (NIAC) — and on Wednesday, the agency announced 18 bizarre new projects receiving funding through the program.

“Our NIAC program nurtures visionary ideas that could transform future NASA missions by investing in revolutionary technologies,” NASA exec Jim Reuter said in a press release. “We look to America’s innovators to help us push the boundaries of space exploration with new technology.”

Sci-Fi to Sci-Fact

The 18 newly funded projects are divided into two groups: Phase I and Phase II.

The 12 recipients of the Phase I awards will each receive approximately $125,000 to fund nine month’s worth of feasibility studies for their concepts. These include a project to beam power through Venus’ atmosphere to support long-term missions, a spacesuit with self-healing skin, and floating microprobes inspired by spiders.

The six Phase II recipients, meanwhile, will each receive up to $500,000 to support two-year studies dedicated to fine-tuning their concepts and investigating potential ways to implement the technologies, which include a flexible telescope, a neutrino detector, and materials for solar surfing.

“NIAC is about going to the edge of science fiction, but not over,” Jason Derleth, NIAC program executive, said in the press release. “We are supporting high impact technology concepts that could change how we explore within the solar system and beyond.”

READ MORE: NASA Invests in Potentially Revolutionary Tech Concepts [Jet Propulsion Laboratory]

More on bizarre NASA plans: New NASA Plan for Mars Is Moderately-Terrifying-Sounding, Also, Completely-Awesome: Robotic. Bees.

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NASA Is Funding the Development of 18 Bizarre New Projects

Report: Tesla Doc Is Playing Down Injuries to Block Workers’ Comp

Former Tesla and clinic employees share how doctors blocked workers' compensation claims and put injured people back to work to avoid payouts.

Here’s A Band-Aid

Tesla’s on-site clinic, Access Omnicare, has allegedly been downplaying workers’ injuries to keep the electric automaker off the hook for workers’ compensation.

Several former Tesla employees, all of whom got hurt on the job, and former employees of Access Omnicare, told Reveal News that the clinic was minimizing worker injuries so that the automaker wouldn’t have to pay workers’ comp — suggesting that the barely-profitable car company is willing to do whatever it takes to stay out of the red and avoid negative press.

Back To Work

Reveal, which is a project by the Center for Investigative Reporting, described cases in which employees suffered electrocution, broken bones, and mold-related rashes while working in a Tesla factory — only for Omnicare to deny that the injuries warranted time off work.

The clinic’s top doctor “wanted to make certain that we were doing what Tesla wanted so badly,” former Omnicare operations manager Yvette Bonnet told Reveal. “He got the priorities messed up. It’s supposed to be patients first.”

Missing Paperwork

Meanwhile, employees who requested the paperwork to file for workers’ comp were repeatedly ignored, according to Reveal.

“I just knew after the third or fourth time that they weren’t going to do anything about it,” a former employee whose back was crushed under a falling Model X hatchback told Reveal. “I was very frustrated. I was upset.”

The automaker is on the hook for up to $750,000 in medical payments per workers’ comp claim, according to Reveal‘s reporting.

Meanwhile, both Tesla CEO Elon Musk and Laurie Shelby, the company’s VP of safety, have publicly praised Access Omnicare, Reveal found. Musk even recently announced plans to extend it to other plants, “so that we have really immediate first-class health care available right on the spot when people need it.”

READ MORE: How Tesla and its doctor made sure injured employees didn’t get workers’ comp [Reveal News]

More on Tesla: Video Shows Tesla Autopilot Steering Toward Highway Barriers

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Report: Tesla Doc Is Playing Down Injuries to Block Workers’ Comp

NASA: Genetic Changes Caused by Space Travel Are Temporary

NASA just published the full results of its extensive study into how space travel altered astronaut Scott Kelly's health and gene expression.

Twin Study

For years, NASA has been analyzing the health effects of space travel by comparing astronaut twins Mark and Scott Kelly. In 2015 into 2016, Scott spent 340 days in orbit while Mark stayed on Earth, giving scientists rare data about how leaving the planet affects the human body.

The study, finally published Thursday in the journal Science, reveals that Scott experienced a number of genetic changes while he was in space. Surprisingly, most of them reversed once he landed back on Earth, the MIT Technology Review reports, giving researchers valuable insight as space agencies prepare for longer and deeper missions into space.

Back And Forth

Over the past few years, NASA scientists have gradually released some info about the twin study’s findings. Most surprising was how Scott’s time in space extended his telomeres, the protective caps that protect chromosome and — at least on Earth — slowly degrade over time.

While this finding will likely lead to speculation — and future research — into how spaceflight could affect human longevity, the changes were shortlived. Within half a year of his return to Earth, Scott’s lengthened telomeres returned to normal, while some new, shorter-than-usual telomeres that formed upon his return persisted.

Ready To Launch

Past research on astronauts suggested that extended space travel could compromise their immune systems. The new findings reveal that these changes are largely temporary and that astronauts quickly recover, which is a promising development for the prospect of sending people out to Mars and maybe even farther.

But because the twin study only involved one person in space, it’s hard to tell just how much each data point matters because the context is missing.

“It’s analogous to the very first time that we measured someone’s blood pressure,” lead researcher Chris Mason told MIT Tech. “We didn’t know what the actual reference numbers were until we started to measure more people.”

READ MORE: The first study of a twin in space looks like good news for a trip to Mars [MIT Technology Review]

More on the twin study: After a Year Away from Earth, Scott Kelly’s “Space Genes” Set Him Apart From His Twin

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NASA: Genetic Changes Caused by Space Travel Are Temporary

Israel’s Lunar Lander Just Crashed Into the Moon

The Beresheet lunar lander crashed into the surface of the moon after experiencing engine failure during its final descent.

Landing Attempt

Beresheet, the lunar lander built by Israeli space nonprofit SpaceIL, crashed into the surface of the Moon on Thursday.

It would have been the first privately-owned lander on the surface of the Moon, and would have made Israel the fourth country to reach the surface of the Moon — but the craft experienced engine failure during its final approach.

“We have a failure of the spacecraft,” said Israel Aerospace Industries general manager Opher Doron on livestream, according to CNBC. “We unfortunately have not managed to land successfully,”

Final Approach

As Beresheet was approaching the surface of the Moon, the main engine failed and Beresheet was forced to reset the engine.

With about 10 kilometers left to go (6.2 miles), the main engine cut out and the lander crashed into the Moon traveling at about 134 meters per second, according to the livestream.

“We failed the first try, we’ll make it in the second… within two years we’ll try it again,” Israel Prime Minister Benjamin Netanyahu said, according to CNBC.

Definitely Tried

SpaceIL tweeted a photo of the lander’s final approach minutes before it lost contact with the craft. In it, the Moon looms ominously in the background.

“We didn’t make it. But we definitely tried,” said SpaceIL.

Editor’s note: This article has been updated with additional details.

READ MORE: Israeli spacecraft Beresheet falls short of history as moon landing fails in final moments [CNBC]

More on Beresheet: The Israeli Moon Lander Is About to Touch Down

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Israel’s Lunar Lander Just Crashed Into the Moon

We Wouldn’t Have the First Black Hole Image Without Katie Bouman

Katie Bouman, a 29-year-old computer scientist, led the development of the algorithm that made the first black hole image possible.

Algorithmic Assist

It took a team of more than 200 scientists to create the first image of the event horizon of a black hole — and the internet is currently in love with one of them.

Computer scientist Katie Bouman led the development of the algorithm that made the breathtaking black hole image possible, and soon after the Event Horizon Telescope team revealed the photo on Wednesday, another image — this one a shot of Bouman that she posted to her Facebook page — started making the rounds online.

“Watching in disbelief as the first image I ever made of a black hole was in the process of being reconstructed,” the 29-year-old wrote of the photo, which was subsequently shared by everyone from CNN to Kamala Harris.

Here's the moment when the first black hole image was processed, from the eyes of researcher Katie Bouman. #EHTBlackHole #BlackHoleDay #BlackHole (v/@dfbarajas) pic.twitter.com/n0ZnIoeG1d

— MIT CSAIL (@MIT_CSAIL) April 10, 2019

Women Who Code

The online photo frenzy wasn’t over, though.

Many in the Twitterverse and beyond noted the similarities between an image of Bouman with piles of hard drives containing black hole image data and an image of another female computer scientist, Margaret Hamilton, standing next to the stacks of code she wrote to help NASA put astronauts on the Moon in 1969.

Still, Bouman, who is now an assistant professor of computing and mathematical sciences at the California Institute of Technology, is quick to note that creating the first black hole image wasn’t a one-woman job.

“No one of us could’ve done it alone,” she told CNN. “It came together because of lots of different people from many different backgrounds.”

Left: MIT computer scientist Katie Bouman w/stacks of hard drives of black hole image data.

Right: MIT computer scientist Margaret Hamilton w/the code she wrote that helped put a man on the moon.

(image credit @floragraham)#EHTblackhole #BlackHoleDay #BlackHole pic.twitter.com/Iv5PIc8IYd

— MIT CSAIL (@MIT_CSAIL) April 10, 2019

READ MORE: That image of a black hole you saw everywhere? Thank this grad student for making it possible [CNN]

More on the black hole image: Scientists Just Released the First-Ever Image of a Black Hole

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We Wouldn’t Have the First Black Hole Image Without Katie Bouman

SpaceX Milestone: Company Lands Three Falcon Heavy Boosters

SpaceX successfully landed all three of its Falcon Heavy boosters during the rocket's second launch ever, marking a new milestone in reusable rocketry.

The Falcons Have Landed

The second time is apparently the charm for SpaceX.

In February 2018, Elon Musk’s space company launched a Falcon Heavy rocket for the first time, but it wasn’t able to recover all three of the rocket’s boosters — rather than landing on SpaceX’s autonomous drone ship like it was supposed to, the center core splashed down in the Atlantic Ocean. Whoops.

On Thursday, the company attempted its second Falcon Heavy launch, and this time it nailed the landing of all three boosters — marking a new milestone in reusable rocketry.

Watch SpaceX's #FalconHeavy rocket lands its center core on a ship for the first time ? pic.twitter.com/VltoKVaAox

— CNET (@CNET) April 12, 2019

Democratizing Space

The Falcon Heavy is currently the most powerful launch vehicle in operation. Because SpaceX designed the rocket to be reusable, it can keep the cost of launches lower than would otherwise be possible — and cheaper launches mean more launches, thereby advancing humanity’s efforts to study, explore, and exploit space.

Now that SpaceX has proven it can successfully recover all three Falcon Heavy boosters, it can start looking ahead to the five launches already on the rocket’s manifest — and the others that will likely follow.

Falcon Heavy’s side boosters land on Landing Zones 1 and 2 pic.twitter.com/nJCCaVHOeo

— SpaceX (@SpaceX) April 12, 2019

READ MORE: SpaceX launches mega rocket, lands all three boosters [Phys.org]

More on Falcon Heavy: The Falcon Heavy Launched. Here’s What’s Next for SpaceX.

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SpaceX Milestone: Company Lands Three Falcon Heavy Boosters

Space Station Mice Learned to Propel Themselves in Zero Gravity

A video of mice in microgravity reveals that the animals quickly adapted to their off-world conditions, running, eating, and cleaning themselves.

Mouse House

A first-of-its-kind study aboard the International Space Station (ISS) has yielded new insights into how humans adapt to spaceflight — and an entertaining video of mice in microgravity.

In a study published Thursday in the journal Scientific Reports, researchers from NASA’s Ames Research Center describe how they sent 20 mice to live in the ISS’s NASA Rodent Habitat to see how they’d behave when exposed to the same conditions as astronauts, including microgravity, radiation, and confinement.

“Our approach is yielding an interesting analogue for better understanding human responses to spacefight,” the researchers wrote, “and providing the opportunity to begin to address how physical movement influences responses to microgravity.”

Squeak By

The NASA team use cameras to observe the mice in microgravity and noted in the study that the animals appeared to adapt to their space lives quickly by “propelling their bodies freely and actively throughout the habitat, utilizing the entire volume of space available to them.”

After about a week, some of the mice began zipping around the sides of the Rodent Habitat, a behavior the researchers called “race-tracking.”

As for why the mice race-tracked, the researchers hazarded a guess in the study that the behavior might have been due to stress, a response to boredom, or even a form of entertainment — similar to how mice on Earth might choose to run on a wheel.

READ MORE: The First Detailed Study of How Mice Behave in Space Reveals Strange, Coordinated Zooming [Gizmodo]

More on microgravity: Alarming Research: Zero Gravity Makes Astronauts’ Brains Age Faster

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Space Station Mice Learned to Propel Themselves in Zero Gravity

The First Black Hole Photo Is Even More Amazing When You Zoom Out

A team from NASA's Chandra X-ray Observatory has shared an image that puts the first black hole photo into stunning context.

Photo Friends

The Event Horizon Telescope (EHT) wasn’t the only powerful device with its gaze fixed upon galaxy Messier 87 (M87) in April 2017.

While the EHT was focused on the event horizon of the black hole at the center of M87, NASA’s Chandra X-ray Observatory was taking a wider view of the same target — and the image produced through those observations puts the black hole photo into stunning context.

Credit, X-ray: NASA/CXC/Villanova University/J. Neilsen; Radio: Event Horizon Telescope Collaboration

1,000 Light Years

The Chandra team provided additional details on the dazzling display of bright particles captured in its black hole companion image in a blog post shared on Monday:

“While Chandra can’t see the shadow itself, its field of view is much larger than the EHT’s, so Chandra can view the full length of the jet of high-energy particles launched by the intense gravitational and magnetic fields around the black hole. This jet extends more than 1,000 light years from the center of the galaxy.”

Image Credit, X-ray: NASA/CXC/Villanova University/J. Neilsen; Radio: Event Horizon Telescope Collaboration

READ MORE: Chandra and the Event Horizon Telescope [Chandra X-Ray Observatory]

More on the black hole photoScientists Just Released the First-Ever Image of a Black Hole

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The First Black Hole Photo Is Even More Amazing When You Zoom Out