Category Archives: Human Genetics

PARP inhibitors will be taking center stage at the European Society of Medical Oncology Congress as rival drugmakers aim to show off data that supports broader use of the drug in treating various cancers.

Both AstraZeneca and GlaxoSmithKline will showcase the power of Lynparza (co-developed with Merck) and Zejula, respectively. At ESMO, both companies will highlight clinical data supporting the efficacy and safety of the PARP inhibitors. AstraZeneca will provide details of Lynparza studies in ovarian cancer and prostate cancer, as well as pancreatic cancer. GSK will present Zejula data from its late-stage ovarian cancer trial, as well as data from breast cancer studies.

PARP inhibitors have mainly been tied to cancers that have a BRCA mutation. However, a recent study conducted by UT Southwestern has shown that PARP inhibitors could have broader effectiveness in treating other types of cancer, including ovarian and prostate cancer. PARP stands for poly ADP ribose polymerase, which is an enzyme many cancer cells are more dependent upon than regular, healthy cells are. PARP inhibitors are designed to disable DNA repair pathways in cancer cells, which make it difficult for those cells to survive.

Positive data that is well-received is something both companies need to bolster their oncology programs, an analyst told Reuters. Echoing the UT Southwestern study, John Bowler, an asset manager at Schroders, told Reuters that the utility of PARP inhibitors could become much broader than patients with the BRCA mutation.

That becomes relevant when you start thinking about the drugs role in other tumor types like prostate cancer and breast cancer where the incidence of new patients each year is much greater than in ovarian cancer, Bowler told Reuters.

For GSK, the data could be especially important since the company laid out its new R*D strategy last year that focuses on genetics and the immune system. R&D Head Hal Barron laid out a strategy that focuses on the development of medicines that target mechanisms of action with strong human genetic validations. Those targets have a higher probability of success, which means a shift to a genetics-driven portfolio. Bowler said the data from the Zejula trials will be an important milestone for Barrons strategy. GSK acquired Tesaro Oncology, the maker of Zejula, in December 2018 for $5.1 billion. That bet appears to have paid off. In July, GSK reported that Zejula hit the mark in a Phase III ovarian cancer study. The PRIMA study met its primary endpoint of a statistically significant improvement in progression-free survival for women regardless of their biomarker status. The PRIMA study is one of the Zejula trials that GSK will tout at ESMO.

Not to be outdone, last month AstraZeneca reported that for the second time, Lynparza met its endpoints as a potential first-line treatment for ovarian cancer in a Phase III trial. The Phase III PAOLA-1 trial assessed Lynparza as a companion to the standard of care treatment Bevacizumab (Genentechs Avastin) in women with advanced ovarian cancer. The combination treatment proved to be a powerhouse in the intent-to-treat population with a statistically-significant and clinically-meaningful improvement in progression-free survival.

In its analysis of the PARP field, Reuters predicted that Lynparza will generate about $3.1 billion by 2023, while Zejula will post about $1.1 billion in sales that year.

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GSK and AstraZeneca's PARP Inhibitors Will Flex Their Muscles at ESMO - BioSpace

Human remains found at what is thought to be a Pictish-era cemetery near Muir of Ord on the Black Isle in the north east of Scotland, have led archaeologists to believe they belong to an ancient Pictish woman. The discovery came as something of a surprise as the scientists say they did not expect to find any human remains in the acidic soil at the site, and the discoverer talked to press about his eureka moment.

The dig was conducted by the North of Scotland Archaeological Society ( NOSAS) and archaeologist Steven Birch told The Scotsman that his discovery had been made on the final day of the dig. He had been working at one particular grave and said he was certain there had been something there.

Aerial view of trench 3 where the remains were found. (Andy Hickle / Tarradale Through Time )

Its really kicking off in the north of Scotland. In August this year I wrote an Ancient Origins news piece about archaeologist Anne MacInnes discovering a massive Pictish symbol stone buried within an early Christian church in Dingwall, less than 10 miles away. Then in September I wrote another article discussing a new study published by researchers from the University of Edinburghs Usher Institute and MRC Human Genetics unit which presented the first comprehensive genetic map ofScottish peoples DNAshowinggenetic linksbetween modern Scots and the Picts.

Now, after aerial photographs suggested the presence of a burial ground , archaeologists from NOSAS spent two weeks uncovering barrows (earthen mounds) over ancient graves to get to the remains of the Pictish person. Mr Birch says he found the human remains near blackened patches in the soil which enticed him to trowel back at that level and to his astonishment the faint outlines of the Picts skeleton emerged after 1400 years.

The faint outlines of a Pict emerged form the dirt. ( Tarradale Through Time )

Mr Birch told reporters I was able to find the legs and the feet, which appear to have been bound together before burial. He then identified the spinal column, the upper arms and shoulders and then the relatively well preserved skull which had partly collapsed. Mr Birch added that he has been an archaeologist for a long time and over the years he has made some important discoveries, "but this was a real eureka moment for me.

This Black Isle excavation is one of the largest Pictish cemeteries in Scotland and is located within the old Pictish province of Fortriu which existed between the 4th and 10th centuries. While traditionally Fortrui was thought to have been located in and aroundStrathearnin centralScotland, James E. Fraser suggests it was in the north of Scotland, centered on Moray andEaster Ross, where most early Pictish monuments are located.

Professor Gordon Noble of the University of Aberdeen is an advisor at the excavation and he told press that Tarradale is one of the largest recorded Pictish barrow cemeteries known about and that the Tarradale Through Time project did a fantastic job revealing and excavating part of the cemetery. It is known that the Picts were a matrilineal society and it is thought maybe this person was a woman of high status for she had been buried in what NOSAS say would have been a very large and imposing barrow.

It is thought this person was a woman of high status. (Tarradale Through Time )

I always find it funny when scientists play with such wholly unscientific subjects such as fate, destiny and superstition. In this instance, Dr Eric Grant, the leader of the archaeological project, told the Scotsman It is a bit of a joke amongst archaeologists that the best finds "always come on the last day and suggests this outcome has been proved on many occasions, he said A few years ago the remains of a Pictish man was discovered in a cave at Rosemarkie , again on the last day of the dig.

And it is not only in the far north of Scotland that archaeologists are adding to our understanding of the Picts, for according to a report in The Scotsman (on "August 23rd 2018) Aberdeen University archaeologists discovered a very significant Class I Pictish symbol stone , similar to the one discovered in Dingwall, featuring carved symbols including a triple disc with cross bar, a mirror, and a notched rectangle with two internal spirals.

Pictish symbol stone found in the River Don in Dyce, Aberdeen, Scotland. (Image: HES)

With human remains being recovered in the north , symbol stones being found in the south and DNA being studied by computers , we are experiencing a Quickening in our knowledge of how these Highland Picts both lived and died.

Top image: Outline of a Pictish burial found near Muir of Ord, Black Isle, Scotland. Source: Tarradale Through Time

By Ashley Cowie

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1400-year-old Pictish Remains Finally Unearthed in Scotland - Ancient Origins

The Union Minister for Science & Technology, Earth Sciences and Health & Family Welfare, Dr. Harsh Vardhan todaylaunched UMMID (Unique Methods of Management and treatment of Inherited Disorders) initiative and inaugurated NIDAN (National Inherited Diseases Administration) Kendras, which is being supported by Department of Biotechnology (DBT),M/o Science and Technology.Speaking on the occasion in New Delhi, the Minister for Science & Technology brought attention to the issue of ensuring proper treatment to children and creation of awareness amongst the masses and urged upon all to dwell more into finding solutions. Congratulating DBT for supporting this path-breaking initiative, Dr Harsh Vardhan said With the program being implemented at government hospitals, people who cannot afford expensive care for genetic disorders will be benefited. He further emphasized on the use of cutting edge scientific technology and molecular medicine for extending Universal Health Coverage for all.Dr. Renu Swarup, Secretary, DBT also highlighted how UMMID is a path-breakinginitiative in the health-care sector. She said UMMID initiative is meeting the hopes of large number of persons with inherited diseases.Taking into account that congenital and hereditary genetic diseases are becoming a significant health burden in India, and realizing the need for adequate and effective genetic testing and counselling services. DBT has started the UMMID Initiative which is designed on the concept of Prevention is better than Cure.

In Indias urban areas, congenital malformations and genetic disorders are the third most common cause of mortality in newborns. With a very large population and high birth rate, and consanguineous marriage favored in many communities, prevalence of genetic disorders is high in India, the UMMID initiative aims (i) to establish NIDAN Kendras to provide counselling, prenatal testing and diagnosis, management, and multidisciplinary care in Government Hospitals wherein the influx of patients is more, (ii) to produce skilled clinicians in Human Genetics, and (iii) to undertake screening of pregnant women and new born babies for inherited genetic diseases in hospitals at aspirational districts.As a part of this initiative, in the first phase, five NIDAN Kendras have been established to provide comprehensive clinical care.Training Centres at Madras Medical Mission- Chennai; SGPGIMS- Lucknow; CDFD Hyderabad; AIIMS- New Delhi; MAMC- New Delhi; NIIH- Mumbai and CMC Vellore have been supported to provide training in Biochemical Genetics, Cytogenetics, Molecular Genetics, and Clinical Genetics to the clinicians from government hospitals. Screening of 10,000 pregnant women and 5000 new born babies per year for inherited genetic diseases will be taken up at the following seven aspirational districts.The department is planning to expand the program and establish more Nidan Kendras in other parts of the country, train more clinicians in clinical genetics and cover more aspirational districts for screening of pregnant women and new born babies for inherited genetic diseases to provide comprehensive clinical care, in the next phase under this UMMID initiative.The Government of India has launched the National Health Policy, 2017 aiming to shift focus from sick-care to wellness. UMMID initiative shall work towards achieving wellness by promoting prevention of genetic diseases.

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Government launches 'UMMID' initiative to tackle inherited genetic diseases of new born ba - 5 Dariya News

By: Julie Compton

After a large-scale study published in August revealed there is no single gay gene influencing same-sex attraction, the studys lead researcher, Dr. Benjamin Neale, has been a little worried.

Neale, who is openly gay, knew conversion therapy advocates would misconstrue the studys findings, which show that same-sex attraction arises out of a complex interplay between environmental, social, and genetic factors. The study shows, for instance, that genes are responsible for about a third of the influence on same-sex sexual behavior.

He also knew that conversion therapy has long been proven harmful pseudoscience, but that has never detered its advocates.

I dont see that this work makes that circumstance better or worse, Neale tells Out. The hope I have is that these results reinforce the idea that there is some biology to what people are expressing and that that biology is part of our population, part of our species, and that diversity is a natural part of what we see, and that message I think should be carried forward to advance the struggle for equality.

Not everyone has gotten the message. In a blog post titled Not Born This Way After All?, American Conservative writer Rod Dreher wrote: If homosexuality is primarily a matter of nurture, not nature, why is it wrong to let gay people who want to seek therapy in hope of reducing or eliminating same-sex desire undergo that treatment?

The Catholic website LifeSite, meanwhile, twisted the findings to say that the study shows children can be influenced to think they are gay through envrionmental influences and upbringing.

What the study, funded by the National Institutes of Health and other agencies, really shows is the opposite: Sexuality is too complicated to pin to any single factor.

The Potential Dangers of Studying Gay Genes

Many people have expressed ethical questions around such research: Why do scientists feel a need to prove that same-sex attraction is rooted in biology? Does ones sexuality have to somehow be biologically determined to be authentic? How will people with anti-gay agendas abuse the complex findings?

Julia Serano, an evolutionary biologist, author, and transgender activist, warned that any research related to gender and sexual minorities can serve as a Rorschach test to anyone reading the results.

People will project whatever ideas that they want to project onto them, she says.

For example, a 2018 study showed that the brains of transgender adolescents tended to match their non-trans peers with the same gender identity. The study didnt prove that brain scans can demonstrate whether someone is transgender, Serano said, but some people interpreted that in the findings anyway.

It immediately got used and has been thrown about often again in anti-transgender and trans-skeptical parents groups who now say, Well, why dont we just hold off on acknowledging childrens gender identities until we can do brain scans on them and determine whether or not they are transgender or not? Serano says.

Jeremy Yoder, an assistant professor at California State University Northridge, is a gay evolutionary biologist who has written about the ethics of seeking a genetic explanation for same-sex attraction. While the researchers intentions might have been benign, he says, such studies have a long history of being misused.

Scientists have not been great at anticipating negative unintended consequences on these kinds of studies as they are absorbed and processed by broader society, Yoder says.

According to Yoder, there are many questions about how exactly the results could be used. For instance, what if an anti-LGBTQ+ government had access to a database where the genetic data of its citizens is stored? He speculated about whether these governments might try to use the research to prove whether one of its citizens is gay, even if the genetic variations cant actually determine sexuality.

Its a little bit paranoid to talk about it this way, Yoder acknowledges, but we have this history of anti-gay misapplications of science that I think makes it a thing that we need to worry about.

While Yoder also expressed concerns that doctors and parents may someday try to use the data to reverse engineer embryos in an attempt to ensure that their children are heterosexual Neale said genetic variants cannot determine an embryos future sexuality.

Its not possible to use the results for genetic engineering, he insists.

Despite how their research might be interpreted, Neale said scientists have a responsibility to describe the world as accurately and scientifically as possible.

Some aspects of [LGBTQ+] civil rights history, historically, have been rooted in demonstrating that this is a normal and natural part of human behavior and human variation, that this is part of biology, that diversity and variability is part of biology, he says, We hope to reinforce that message, and we hope that societies will use those results to advance the cause for equality.

But advocacy is hard, civil rights are taken, not given, he adds. Its a challenging space.

How the Findings Could Actually Advance LGBTQ+ Rights

Regardless of potential risks, a large-scale study into same-sex attraction was inevitable given the genetic data that scientists now have access to, according to Neale.

A geneticist at the Broad Institute of M.I.T. and Harvard, Neale feared that if his top-notch team of international researchers didnt do the study first, scientists with less concern for the LGBTQ+ community would. We really wanted to make sure the work was done thoughtfully, rigorously, and actually in conjunction with different advocacy and alliance organizations about the work itself, he says.

Accuracy was another reason to move forward with the study, according to Neale. Similar studies in the past were smaller, often left out women, and were not a true reflection of what the actual genetic influence on behavioral traits really looks like.

But the researchers knew they had a responsibility to the LGBTQ+ community to make sure the studys findings were well communicated, he said. The team worked closely with advocacy groups to craft a plan around how they would convey the study to the public. The goal, Neale said, would be to mitigate any inadvertent stigmatization the results might have on the LGBTQ+ community.

The team created a website and video explaining the complexity of the findings. They published essays on the research, detailed its limitations, and were upfront about the fact that anti-LGBTQ+ conservatives would probably try to misconstrue it.

Despite the ways in which conversion therapy advocates have attempted to exploit the results, Robbee Wedow, a Harvard sociologist and geneticist and member of the research team that conducted the study, says he believes the research has the power to make society less homophobic.

Wedow, who is gay, was raised in an ultra-religious community in Indiana. He says no one in his home town talked about the complex role of genetics in human behavior.

I grew up really thinking that I was going to go to hell, he says.

Wedow said his father, who didnt speak to him for years after he came out, called him after reading the study. I think this has been my great hope for this work, that the conversations we have will begin to open space, to increase tolerance, he says.

Yoder commended the steps researchers took to safeguard against potential abuse but cautions these measures are pretty new.

Theres not been a lot of cases where the negative effects on a marginalized group have been anticipated this way and then the research has gone forward but with all of these attempted safeguards, he says. But we dont know how well or poorly thats going to work.

Despite these concerns, Yoder says he also hopes the study will increase LGBTQ+ inclusion and acceptance.

I think its been a well-performed study and the authors have done their due diligence, he argues. The worries I have are: How does society react to this now that its out there?

RELATED |The Gay Gene Study Is Being Used to Justify Conversion Therapy

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The Complicated Truth About That Controversial 'Gay Gene' Study - Out Magazine

The global Human Geneticsmarketis comprehensively and Insightful information in the report, taking into consideration various factors such as competition, regional growth, segmentation, and Human GeneticsMarket size by value and volume. This is an excellent research study specially compiled to provide the latest insights into critical aspects of the Human Geneticsmarket. The report includes different market forecasts related to market size, production, revenue, consumption, CAGR, gross margin, price, and other key factors.It is prepared with the use of industry-best primary and secondary research methodologies and tools.

TheMajorPlayers Covered in this Report:QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp, GE& More.

In 2018, the global Human Genetics market size was million US$ and it is expected to reach a million US$ by the end of 2025, with a CAGR between 2019 and 2025.

Get a Sample PDF Report:https://www.reportsmonitor.com/request_sample/677739

This report studies the Human Genetics market size by players, regions, product types and end industries, history data 2014-2018 and forecast data 2019-2025; This report also studies the global market competition landscape, market drivers and trends, opportunities and challenges, risks and entry barriers, sales channels, distributors and Porters Five Forces Analysis.

Segment by Type, the product can be split intoCytogeneticsPrenatal GeneticsMolecular GeneticsSymptom Genetics

Market Segment by Application, split intoResearch CenterHospitalForensic Laboratories

Each section of the report reveals critical information about the global Human Genetics market that could be used to ensure strong growth in the coming years. Our unique blend of primary and secondary research techniques helped us to recognize hidden business opportunities available in the global Human Geneticsmarket, besides collecting significant insights of market participants and obtaining precise market data.It includes several research studies such as manufacturing cost analysis, absolute dollar opportunity, pricing analysis, company profiling, production and consumption analysis, and market dynamics.

Regional Analysis For Human Genetics Market:

North America(United States, Canada, and Mexico)Europe(Germany, France, UK, Russia, and Italy)Asia-Pacific(China, Japan, Korea, India, and Southeast Asia)South America(Brazil, Argentina, Colombia, etc.)Middle East and Africa(Saudi Arabia, UAE, Egypt, Nigeria, and South Africa)

In this study, the years considered to estimate the market size of the Human Genetics are as follows:

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To conclude, the Human Genetics Industry report mentions the key geographies, market landscapes alongside the product price, revenue, volume, production, supply, demand, market growth rate, and forecast, etc. This report also provides SWOT analysis, investment feasibility analysis, and investment return analysis.

Contact UsJay MatthewsDirect: +1 513 549-5911 (U.S.)+44 203 318 2846 (U.K.)Email: sales@reportsmonitor.com

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Human Genetics Market 2019 Growing with Major Key Player QIAGEN, Agilent Technologies, Thermo Fisher Scientific, Illumina, Promega, LabCorp, GE, etc -...

Verona High School senior Christopher Lakin has made it to the final round of the Breakthrough Junior Challenge, though he did not win the Popular Vote part of the global science video contest. That honor went to a video on cryptography by Branko Malaver-Vojvodic of Peru. As we reported earlier this month, Lakins video is on the role of quantum physics in making solar power cells more efficient.

Lakin is now one of just 16 teenagers from all over the worlddown from more than more than 11,000 registrantswho are competing to win a grand prize valued at $400,000. On November 3, we will learn whether Lakin has succeeded in his effort to win $50,000 for Alexander Cali, the VHS teacher who inspired his thinking, another $100,000 for a new science lab at VHS and $250,000 to pay for his college education.

Over the next month, Lakins video, and those of the other contestants, will be reviewed by a committee that includes Salman Khan, the founder and CEO of Khan Academy; author and educator Lucy Hawking; Dr. Mae Jemison, science literacy expert, former astronaut, and principal, 100 Year Starship; retired NASA Astronaut Scott Kelly; Nima Arkani-Hamed, a professor of physics at the Institute for Advanced Study and Breakthrough Prize in Fundamental Physics Laureate; Rachel Crane, space and science correspondent for CNN; Huda Zoghbi, professor of pediatrics and professor of neuroscience and molecular and human genetics at Baylor College of Medicine and Breakthrough Prize in Life Sciences Laureate; Ijad Madisch, CEO and co-founder of ResearchGate; Jason Silva, a host on National Geographic Channel Television; Pete Worden, chairman of the Breakthrough Prize Foundation and executive director, Breakthrough Starshot; Esther Wojcicki, founder of the Palo Alto High Media Arts Center; and Terence Tao, professor of mathematics at UCLA and Breakthrough Prize in Mathematics Laureate.

All Lakin can do now is wait for the results.

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Lakin Named Finalist In Global Science Video Contest - My veronanj

It took almost 15 years for scientists to sequence and publish a complete accounting of the human genetic code the 3 billion base pairs along the double strands of DNA that serve as a blueprint for the bodys functions and pass traits from parents to offspring.

Now, approximately 15 years after the human genome was first sequenced, current discoveries represent just the beginning when it comes to the genetic origins of disease and the ever-expanding number of individual human genome sequences available to study. Researchers currently utilize what are called genome-wide association studies (GWAS) to discover hundreds of associations between genetic variations and specific diseases and disorders shared among individuals. But to date, very few researchers have fully explored how correlations between genes and disease may be different in women and men.

Dr. Hongyu Zhao, an internationally known expert in the field of statistical genetics, has collected preliminary data to suggest that genetic pathways may relate to some diseases differently in women and men.

Many human traits and diseases have sex or gender differences, and many diseases have a significant genetic component, said Zhao, Department Chair and Ira V. Hiscock Professor of Biostatistics at Yale School of Medicine. However, most analyses of genetic data assume the same effect for both women and men or use a methodology that is not calibrated to detect potential sex differences.

With a grant from WHRY, Zhao and his team are now building upon new statistical methods they have developed to detect such differences. What is key to Dr. Zhaos work is that the methods developed by his group will have more statistical power to explore sex differences than other methods.

For example, the published results in the literature suggest sex differences in the genetic basis for Alzheimers disease, an area he is eager to pursue further. His work will seek to better define which areas of the genome are contributing to Alzheimers disease differently in women and men and will potentially identify new genes involved in Alzheimers disease for further study. By better understanding first and foremost which genes contribute to Alzheimers disease, researchers will be better able to understand how these genes are functioning in women and men, and ultimately, use this insight to inform treatment or prevention strategies.

Members in Dr. Zhaos lab will work with him to inspect large databases (in particular, the UK Biobank featuring health and genetic data on more than 500,000 participants in the United Kingdom) and focus on diseases and traits with a significant impact on the health of women. In addition to Alzheimers disease, the project will include coronary artery disease and autoimmune disease.

The researchers will then develop sex-specific genetic risk models and build a foundation to support an application for external funding to further develop and apply these methods to transform our understanding of disease.

We seek to establish statistical methods tailored to detect sex differences in genetic contributions to human traits and diseases, which will potentially provide candidate genes and proteins for further study in relation to disease, Zhao said. Follow-up studies may improve our ability to identify high-risk individuals for prevention and screening, ultimately improving the effectiveness of disease treatment.

Originally posted here:
The Genetic Origins of Sex Differences in Disease - Yale News

(more about Power Words)

cancerAny of more than 100 different diseases, each characterized by the rapid, uncontrolled growth of abnormal cells. The development and growth of cancers, also known as malignancies, can lead to tumors, pain and death.

Cas9An enzyme that geneticists are now using to help edit genes.It can cut through DNA, allowing it to fix broken genes, splice in new ones or disable certain genes. Cas9 is shepherded to the place it is supposed to make cuts by CRISPRs, a type of genetic guides. The Cas9 enzyme came from bacteria. When viruses invade a bacterium, this enzyme can chop up the germs DNA, making it harmless.

cellThe smallest structural and functional unit of an organism. Typically too small to see with the unaided eye, it consists of a watery fluid surrounded by a membrane or wall. asyeasts, molds, bacteria and some algae, are composed of only one cell.

clinicaltrialA research trial that involves people.

CRISPRAn abbreviation pronounced crisper for the term clustered regularly interspaced short palindromic repeats. These are pieces of RNA, an information-carrying molecule. They are copied from the genetic material of viruses that infect bacteria. When a bacterium encounters a virus that it was previously exposed to, it produces an RNA copy of the CRISPR that contains that virus genetic information. The RNA then guides an enzyme, called Cas9, to cut up the virus and make it harmless. Scientists are now building their own versions of CRISPR RNAs. These lab-made RNAs guide the enzyme to cut specific genes in other organisms. Scientists use them, like a genetic scissors, to edit or alter specific genes so that they can then study how the gene works, repair damage to broken genes, insert new genes or disable harmful ones.

disorder(in medicine) A condition where the body does not work appropriately, leading to what might be viewed as an illness. This term can sometimes be used interchangeably with disease.

DNA(short for deoxyribonucleic acid) Along, double-stranded and spiral-shaped molecule inside most living cells that carries genetic instructions. It is built on a backbone of phosphorus, oxygen, and carbon atoms. In all living things, from plants and animals to microbes, these instructions tell cells which molecules to make.

engineerA person who uses science to solve problems. As a verb, to engineer means to design a device, material or process that will solve some problem or unmet need.

gene(adj. genetic) A segment of DNA that codes, or holds instructions, for a cells production of a protein. Offspring inherit genes from their parents. Genes influence how an organism looks and behaves.

geneticHaving to do with chromosomes, DNA and the genes contained within DNA. The field of science dealing with these biological instructions is known as genetics. People who work in this field are geneticists.

hemoglobinA molecule that binds to oxygen in the blood, carrying it around to tissues.

immune(adj.) Having to do with the immunity. (v.) Able to ward off a particular infection.Alternatively, this term can be used to mean an organism shows no impacts from exposure to a particular poison or process. More generally, the term may signal that something cannot be hurt by a particular drug, disease or chemical.

insightThe ability to gain an accurate and deep understanding of a situation just by thinking about it, instead of working out a solution through experimentation.

multiplemyelomaThis cancer starts in a type of white blood cells known as plasma cells. Part of the immune system, they help guard the body from germs and other harmful substances.

muscleA type of tissue used to produce movement by contracting its cells, known as muscle fibers. Muscle is rich in protein, which is why predatory species seek prey containinglots of this tissue.

mutation(v. mutate) Some change that occurs to a gene in an organisms DNA. Some mutations occur naturally. Others can be triggered by outside factors, such as pollution, radiation, medicines or something in the diet. A gene with this change is referred to as a mutant.

nerveA long, delicate fiberthat transmits signalsacross the body of an animal. An animals backbone contains many nerves, some of which control the movement of its legs or fins, and some of which convey sensations such as hot, cold or pain.

neuronAn impulse-conducting cell. Such cells are found in the brain, spinal column and nervous system.

oxygenA gas that makes up about 21 percent of Earth's atmosphere. All animals and many microorganisms need oxygen to fuel their growth (and metabolism).

pharmaceuticalsMedicines, especially prescription drugs.

plasma (in medicine) The colorless fluid part of blood.

proteinA compoundmade from one or more long chains of amino acids. Proteins are an essential part of all living organisms. They form the basis of living cells, muscle and tissues; they also do the work inside of cells. Among the better-known, stand-alone proteins are thehemoglobin (in blood) and the antibodies (also in blood) that attempt to fight infections. Medicines frequently work by latching onto proteins.

redblood cellColored red by hemoglobin, these cells move oxygen from the lungs to all tissues of the body. Red blood cells are too small to be seen by the unaided eye.

retinaA layer at the back of the eyeball containing cells that are sensitive to light and that trigger nerve impulses that travel along the optic nerve to the brain, where a visual image is formed.

RNAA molecule that helps read the genetic information contained in DNA. A cells molecular machinery reads DNA to create RNA, and then reads RNA to create proteins.

sarcomaA family of more than 70 cancers that begin in bones or in connective tissues.

technologyThe application of scientific knowledge for practical purposes, especially in industry or the devices, processes and systems that result from those efforts.

therapy(adj. therapeutic) Treatment intended to relieve or heal a disorder.

variantA version of something that may come in different forms. (ingenetics) A gene having a slight mutation that may have left its host species somewhat better adapted for its environment.

wombAnother name for the uterus, the organ in mammals in which a fetus grows and matures in preparation for birth.

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Genetics CRISPR enters its first human trials - Science News for Students

For more than a century, the humble and ubiquitous fruit fly has helped scientists shed light on human genetics, disease, and behavior. Now a new study by the University of Miami researchers reveals that the tiny, winged insects have an innate time- and color-dependent preference for light, raising the intriguing possibility that our own color choices depend on the time of day.

In a study published in the journal Nature on Wednesday, the researchers made two unexpected discoveries. First, they found that, given a choice, fruit flies are drawn to green light early in the morning and late in the afternoon, when they are most active, and to red, or dim light, in midday, when like many humans, they slow down to eat and perhaps take a siesta.

Much to the researchers' surprise, they also found that fruit flies, Drosophila melanogaster, demonstrate a "robust avoidance" for blue light throughout the day, a finding that turns a decades-long assumption on its head. Previous experiments dating back to the 1970s determined that fruit flies are attracted to blue light, the main driver for the circadian clock, or the genetic 24-hour timekeeper that controls the lives of humans and most other animals.

"If given a choice, the fact that flies would not choose blue is surprising, but the most surprising thing, which is relevant not just to flies, but to color preference in general, is the fact that color preference changes with time of day," said senior author Sheyum Syed, assistant professor of physics, who conceived and designed the study with post-doctoral student Stanislav Lazopulo. "This finding opens the possibility that human color preference also changes with the time of day, which may explain why it's been so difficult to nail down how color guides our choices."

Added study coauthor James D. Baker, a research assistant professor of biology who helped supervise the study, "Stan has shown that these animals have a very clear preference for different colors of light at different times of day that's repeatable day to day, individual to individual, genotype to genotype. Our research community didn't have any idea that was happening."

Four years ago, while a graduate student in Syed's lab, Lazopulo set out to determine how Drosophila would respond to the colored light they would experience at their leisure in nature. If given a choice, what light would they choose? Would there be a pattern? Would their choices be guided by the circadian clock that guides all organisms?

With assistance from his brother, Andrey, he created an elaborate set of behavioral experiments that involved placing hundreds of single flies into tiny multicolored tubes that had a stopper on one end, food at the other end, and three distinct "rooms"--one green, one red, and one blue--that the insects could freely navigate.

Then he recorded their movements around the clock, through 12 hours of constant light and 12 hours of complete darkness, for as many as two weeks at a time. When Lazopulo reviewed the initial computer analysis of the recordings, he thought he had miscoded the computer program.

"They actually don't like blue light. They run away from blue light," he said. "It was absolutely an unexpected result. Based on all the previous knowledge we were not expecting to have such a preference for green, an avoidance for blue, and such robust patterns in this behavior."

But neither the computer program, nor the video, nor his eyes were flawed. During the day, the flies consistently avoided the blue zones, even when their food was placed in one. Under those circumstances, they would make brief incursions into a blue zone, but only to feed.

In contrast, the flies began to occupy the green zones about two hours after the lights came on in the morning. By midday, their preference for green and their activity diminished, with about half the population split between the green and red, or dim, zones. Then, about an hour before the lights turned off, the flies returned to the green zones and their more active state. Later, during the lights-off phase, the flies randomly distributed themselves across the three zones, indicating, the researchers said, "that light is essential for generating the observed pattern."

Lazopulo and Syed, whose lab studies fruit fly behavior to better understand animal sleep, grooming, and color preferences, attributed the disparate results from earlier studies to improvements in long-term tracking methods and to the differences in the design of the experiments, particularly the difference in the time and conditions that the flies had to choose their color preference.

Past researchers, Syed said, tested Drosophila's color preference by releasing the flies into the bottom of a T-shaped vial and giving them 30 seconds to decide which arm of the T to exit--one with a green light and the other with a blue. The UM researchers suspect the flies chose blue under duress, as "an avoidance response to a noxious stimulus."

But now they know that, at their leisure and under more natural conditions, Drosophila prefers green, like the leaves of the fruit trees where, to the frustration of many a farmer, they like to lay their eggs.

Through what Baker called a "tour de force set of experiments" that included a series of genetic manipulations, the researchers also discovered that the fruit fly's color-driven behavior doesn't depend just on its visual system, as previously documented, but also on light-sensitive cells in the insect's abdomen that sense blue. Their internal clock guides the decision to stay in green or choose dim light in the middle of the day. Delete the clock genes, and the fruit flies always stay in the green, never switching to dim light in midday.

But even without the clock, they still avoid blue, thanks to those abdominal cells that signal independently of the clock genes.

What this means for humans remains to be seen. But 110 years after embryologist Thomas Hunt Morgan began breeding fruit flies to confirm how genetic traits are inherited, UM researchers have shown there's still much to learn from the common pest that has evolved into the most studied and written about the animal on the planet. In all, 10 scientists have earned six Nobel Prizes for their groundbreaking biological discoveries using fruit flies, whose genetic and physiological makeup is far simpler than humans, yet very similar.

In 1933, Morgan earned the first Nobel for discovering the role chromosomes play in heredity; in 2017, a trio of scientists earned the latest one, for isolating the circadian clock genes that control the rhythm of nearly every organism's daily life--not just in the brain, but in almost every cell in the body.

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Study Gives the Green Light to the Fruit Fly's Color Preference - Nature World News

A doctors race against time to find a cure to his rare disease

Dr. David Fajgenbaum was a third-year medical student when he suddenly fell ill and was diagnosed with Castleman disease. Determined not to give up on life, the doctor relapsed four times before he took it upon himself to find a cure for his disease. Fajgenbaum sits down with Fox News Dr. Manny Alvarez to talk about his miraculous journey of survival.

An otherwise healthy medical student wasnt going to let a rare disease stop him from living life to the fullest.

Dr. David Fajgenbaum was in his third year of medical school when he got so sick he had to be hospitalized for five months. Doctors told him his liver, kidney and other organs were shutting down.

At 25 years old, Fajgenbaum was diagnosed with Castleman disease, a condition that acts like a cross between cancer and an autoimmune disorder. According to the National Organization for Rare Disorders (NORD) there are about 5,000 people diagnosed with Castleman disease in the U.S. each year, making it roughly as common as Lou Gehrigs disease, also known as ALS.

People who haveCastleman disease can experience such things asflu-like symptoms and abdominal pain to the complete failure of multiple organ systems.

The diagnosis took about 11 weeks, and most of that time I was in the intensive care unit, Fajgenbaum told Fox News. I had a retinal hemorrhage and went blind in my left eye. I gained about 70 pounds of fluid and I was so sick that I had my last rites read to me right around the time the diagnosis was made.

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Having a rare disease often means limited information and few if any treatment options.

When Fajgenbaum was diagnosed with Castleman disease there was only one drug currently approved by the U.S. Food and Drug Administration (FDA), butthat he relapsed on, leaving him with no other therapy choices.

I promised my dad, my sisters, and my now wife that I would dedicate the rest of my life, however long that may be, to trying to cure this disease

When I relapsed on the only drug in development and my doctor told me that there was nothing coming down the pipeline and there were no promising leads, that's when I promised my dad, my sisters, and my now wife that I would dedicate the rest of my life, however long that may be, to trying to cure this disease, Fajgenbaum said.

In a little more than three years,Fajgenbaum relapsed fourtimes, nearly missing death each time.

Yet with the help of chemotherapy keeping his disease at bay, Fajgenbaum was able to finish medical school and propose to his college sweetheart. But instead of starting a residency, he founded theCastleman Disease Collaborative Network (CDCN), to drive forward research internationally but also to begin conducting laboratory work.

We've made a lot of progress in the last seven years since I started the CDCN and we've invested about $1 million into research, which has led to an additional $7 million in external funding from the government and from non-profits, Fajgenbaum said.

With experts collaborating together from around the globe and a relatively limited amount of funding Fajgenbaum and his organization identified the first novel drug target in 25 years.

That drug target that we identified, I actually identified it in my lab using my own samples, said Fajgenbaum, who is also an assistant professor of medicine in the division of Translational Medicine & Human Genetics at the University of Pennsylvania. I started myself on this drug Sirolimus about five and a half years ago and I've been in remission ever since.

Fajgenbaum was the first patient to try Sirolimus as a treatment for Castleman disease, but he and his team will test the treatment in a clinical trial scheduled to begin at the University of Pennsylvania later this year.

Fajgenbaum, now 34 years old, with a wife and 1-year-old daughter, chronicled his journey to a cure in a new book, Chasing My Cure: A Doctors Race to Turn Hope into Action.

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I wrote this book because there's lessons that I've learned about life, lessons about living from nearly dying five times, lessons that hopefully will inspire people to turn their hopes into action and create silver linings in the midst of tough times, Fajgenbaum said.

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Medical student with rare disease finds possible cure from studying his own blood samples - Fox News