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When a Jewish couple is planning their wedding or anticipating starting a family, they probably arent thinking much about rare genetic conditions. But JScreen, an educational and screening program, urges couples to add genetic testing to their to-do list. And by offering home-based testing, JScreen hopes to eliminate any obstacles to this process.

Based at Emory Universitys Department of Human Genetics, JScreen (jscreen.org) provides a Web-based portal for individuals to request a genetic-screening kit. Participants provide a saliva sample most genetic tests involve a blood draw and mail it back for analysis. Before receiving the kit, participants must view an educational video and enter health information that is reviewed by an Emory genetic counselor.

We all carry [recessive genes for] various genetic diseases. We just dont know what they are, said Karen Grinzaid, a genetic counselor and instructor at Emory University School of Medicine and the senior director of outreach initiatives for JScreen.

The problem occurs when both parents are carriers of the same disease. In that case, each of their offspring has a 25 percent chance of manifesting the condition.

According to Emorys Department of Human Genetics, about one in five Ashkenazi Jews in the U.S. carries a genetic disease. However, most dont have a family history of the disease and are unaware of their status of carriers. In fact, 80 percent of babies with genetic diseases are born to parents with no known family history of that disease.

The only way to know if you are a carrier for a Jewish genetic disease is to have an affected child or be screened, Grinzaid said. For the vast majority of couples, genetic screening gives couples reassurance that theyre not at risk.

Saliva samples returned to Emorys lab are tested for 40 diseases prevalent in the Jewish community. Nineteen of them are more common in Ashkenazi populations, and 21 of them are common in Jews of Sephardic or Mizrahi (Middle Eastern) origins. Testing for an additional 47 diseases found in the general population is available at no extra cost. Many of the diseases included in the tests are fatal, and all impact the individuals quality of life.

Results take less than four weeks. If they are negative, individuals are notified via email. Those who are identified as carriers speak via phone or videoconference to an Emory University genetic counselor about their results and options. They might also be referred to a local genetic counselor for more extensive counseling. Grinzaid said that about 2 percent of couples will be found to be carriers of the same disease.

If both members of a couple carry the same genetic disease, they have several options. One is to undergo in-vitro fertilization using pre-implantation genetic diagnosis. This technology allows embryos to be tested for the affected gene before being implanted. Other options include using a donor egg or sperm, or pursuing adoption.

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New option for Jewish genetic testing

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Angle HD channel https://www.youtube.com/channel/UCwsIbBp_ysGFSTPj7ktB3aA What Hidden is. "In the early 1950s human genetics experimentation was taking its first, tentative steps. Amongst...

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Newswise A first of its kind genetic study confirms the history of the Druze community: The community began to form genetically in the 11th century AD, and there has since been no genetic impact of other ethnic groups on the community. This is according to a new study conducted by a team of researchers led by Prof. Gil Atzmon of the University of Haifa, Prof. Jamal Zidan of the Ziv Medical Center, Zefat, and Prof. Eitan Friedman of the Chaim Sheba Medical Center, Tel Hashomer. This is the first genetic study to discover that the Druze community has genetic origins in the 11th century AD, said Professor Atzmon of the University of Haifa. This genetic finding correlates with the Druze communitys beliefs regarding their origin.

Traditionally, the Druze people believe that their community was founded in the 11th century AD as a new religious movement under the sixth caliph of the Fatimid Dynasty of Egypt. There are currently 1.5 million Druze around the world, residing mainly in Syria and Lebanon, with the remainder in Israel and Jordan. According to Druze tradition, marriages take place only within the Druze community.

An international team of researchers was formed to perform this current study, published in the European Journal of Human Genetics Nature, which sought to examine whether the Druze people of today have a similar gene pool and if so, when that gene pool began to take shape. The head of the team, Prof. Atzmon of the University of Haifas Department of Human Biology and of the Department of Medicine and Genetics, the Albert Einstein College of Medicine, NY, together with Prof. Zidan, the director of the oncology department at Ziv Medical Center and of the Faculty of Medicine in the Galilee, Bar-Ilan University and Prof. Eitan Friedman of the Sackler School of Medicine, Tel Aviv University, were joined by Dr. Dan Ben-Avraham of the Department of Medicine and Genetics, Albert Einstein College of Medicine, NY, Dr. Shai Carmi of the Department of Computer Science, Columbia University, NY, and Dr. Taiseer Maray of the organization, Golan for Development.

The study included 120 participants from forty families. Twenty families were from the village of Beit Jan located in the Upper Galilee and twenty were from Majdal Shams, in the Golan Heights. The families were selected according to the origins of their extended families (clans), based on their family names and on information that was passed down orally from generation to generation. The mother, father and son of each family were genetically tested. All the families who participated in the study were from different clans so that the sample would be representative and it excluded first- or second-degree family relationships to any other participants in the study. These characteristics all significantly increased the studys genetic accuracy. In this study, we incorporated data that was published on the Druze of Lebanon, the Carmel Mountain region and various other populations in order to test the genetic structure of the Druze population relative to other populations, said Prof. Zidan.

The results indicated that the Druze do indeed share a high genetic similarity that significantly distinguishes them from member of other groups and communities in the Middle East. When the researchers went back in time to discover when this genetic similarity began, they reached the 11th century AD, about 22-47 generations ago (there are differences of opinion over the duration of a generation). During this period a genetic bottleneck was formed, i.e., the genetic origin of many descendants came to an end, the communitys population decreased and the individuals in the population became more alike genetically. According to Prof. Atzmon, their research findings limit the ancestors of the Druze community to several hundred families, who founded the community in the 11th century AD. The researchers also found that there is no evidence of new genes entering the Druze gene pool over the last 1,000 years. In other words, no additional groups from the outside joined this community. In addition, the researchers found evidence of genetic differences between Druze populations from different regions: Lebanon, the Golan Hights, the Upper Galilee and the Carmel Mountain. This strengthens the evidence that marriages take place only within each clan.

When they went further back in time, the researchers discovered another interesting finding. It came to light that, 500 years prior to the beginning of the Druze religion, around the 6th century AD and at the time of the birth of Islam, a genetic group began to take shape that formed the genetic basis of the Druze communitys ancestors. According to this study, the Druze genome is largely similar to the genome of other Arab populations in the Middle East. They also found a few genetic elements in the Druze genome that originated from Europe, Central and South Asia (the Iran region) and Africa.

Our next step is to try to identify the genetic component of common diseases in this sector using the traditional family structure in a study that will allow genetic decoding of regular genetic diseases and provide data on diseases that have a genetic basis, such as cancer and diabetes. We are also planning similar studies in the future of the Muslim and Christian populations in Israel, Prof. Friedman concluded.

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An International Genetic Study Confirms the History of the Druze Community

Wylie Burke, MD, PhD
Wylie Burke, MD, PhD presents "Bioethical Issues in Genomics and Electronic Health Records" at UCSF Informatics Day 2014.

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Human[1] Temporal range: 0.1950Ma Middle Pleistocene Recent Adult human male (left) and female (right) from Southeast Asia Conservation status Scientific classification Kingdom: Animalia Phylum: Chordata Class: Mammalia Order: Primates Family: Hominidae Tribe: Hominini Genus: Homo Species: H. sapiens Binomial name Homo sapiens Linnaeus, 1758 Subspecies

Homo sapiens idaltu White et al., 2003 Homo sapiens sapiens

Modern humans (Homo sapiens or Homo sapiens sapiens) are the only extant members of the hominin clade, a branch of great apes characterized by erect posture and bipedal locomotion; manual dexterity and increased tool use; and a general trend toward larger, more complex brains and societies.[3][4] Early hominids, such as the australopithecines whose brains and anatomy are in many ways more similar to non-human apes, are less often thought of or referred to as "human" than hominids of the genus Homo,[5] some of whom used fire, occupied much of Eurasia, and gave rise to [6][7]anatomically modern Homo sapiens in Africa about 200,000 years ago where they began to exhibit evidence of behavioral modernity around 50,000 years ago and migrated out in successive waves to occupy[8] all but the smallest, driest, and coldest lands. In the last 100 years, this has extended to permanently manned bases in Antarctica, on offshore platforms, and orbiting the Earth. The spread of humans and their large and increasing population has had a destructive impact on large areas of the environment and millions of native species worldwide. Advantages that explain this evolutionary success include a relatively larger brain with a particularly well-developed neocortex, prefrontal cortex and temporal lobes, which enable high levels of abstract reasoning, language, problem solving, sociality, and culture through social learning. Humans use tools to a much higher degree than any other animal, are the only extant species known to build fires and cook their food, as well as the only extant species to clothe themselves and create and use numerous other technologies and arts.

Humans are uniquely adept at utilizing systems of symbolic communication such as language and art for self-expression, the exchange of ideas, and organization. Humans create complex social structures composed of many cooperating and competing groups, from families and kinship networks to states. Social interactions between humans have established an extremely wide variety of values,[9]social norms, and rituals, which together form the basis of human society. The human desire to understand and influence their environment, and explain and manipulate phenomena, has been the foundation for the development of science, philosophy, mythology, and religion. The scientific study of humans is the discipline of anthropology.

Humans began to practice sedentary agriculture about 12,000 years ago, domesticating plants and animals, thus allowing for the growth of civilization. Humans subsequently established various forms of government, religion, and culture around the world, unifying people within a region and leading to the development of states and empires. The rapid advancement of scientific and medical understanding in the 19th and 20th centuries led to the development of fuel-driven technologies and improved health, causing the human population to rise exponentially. By 2014 the global human population was estimated to be around 7.2 billion.[10][11]

In common usage, the word "human" generally refers to the only extant species of the genus Homo anatomically and behaviorally modern Homo sapiens. Its usage often designates differences between the species as a whole and any other nature or entity.

In scientific terms, the definition of "human" has changed with the discovery and study of the fossil ancestors of modern humans. The previously clear boundary between human and ape blurred, resulting in "Homo" referring to "human" now encompassing multiple species. There is also a distinction between anatomically modern humans and Archaic Homo sapiens, the earliest fossil members of the species, which are classified as a subspecies of Homo sapiens, e.g. Homo sapiens neanderthalensis.

The English adjective human is a Middle English loanword from Old French humain, ultimately from Latin hmnus, the adjective form of hom "man". The word's use as a noun (with a plural: humans) dates to the 16th century.[12] The native English term man can refer to the species generally (a synonym for humanity), and could formerly refer to specific individuals of either sex, though this latter use is now obsolete.[13] Generic uses of the term "man" are declining, in favor of reserving it for referring specifically to adult males. The word is from Proto-Germanic mannaz, from a Proto-Indo-European (PIE) root man-.

The species binomial Homo sapiens was coined by Carl Linnaeus in his 18th century work Systema Naturae, and he himself is the lectotype specimen.[14] The generic name Homo is a learned 18th century derivation from Latin hom "man", ultimately "earthly being" (Old Latin hem, a cognate to Old English guma "man", from PIE demon-, meaning "earth" or "ground").[15] The species-name sapiens means "wise" or "sapient". Note that the Latin word homo refers to humans of either gender, and that sapiens is the singular form (while there is no word sapien).

The genus Homo diverged from other hominins in Africa, after the human clade split from the chimpanzee lineage of the hominids (great ape) branch of the primates. Modern humans, defined as the species Homo sapiens or specifically to the single extant subspecies Homo sapiens sapiens, proceeded to colonize all the continents and larger islands, arriving in Eurasia 125,00060,000 years ago,[16][17]Australia around 40,000 years ago, the Americas around 15,000 years ago, and remote islands such as Hawaii, Easter Island, Madagascar, and New Zealand between the years 300 and 1280.[18][19]

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Despite warnings that a new ethical threshold was being crossed, British lawmakers on Tuesday voted to allow the in vitro creation of babies using the DNA of three people, a procedure that could prevent the inheritance of genetic diseases.

According to nytimes.com, the move would make Britain the first country to authorize an in vitro fertilization technique that involves altering a human egg or embryo before transferring it to the womb.

The issue provoked fierce debate, with some opponents likening the procedure to genetic modification and arguing that it would open the way to the creation of so-called designer babies.

Lawmakers in the House of Commons voted 382 to 128 in favor of the move, which still requires final approval from the House of Lords, the unelected upper chamber of Parliament. The House of Lords rarely rejects the decisions of its elected colleagues.

The vote came after a number of objections were raised, including the fact that other nations, including the United States, have not taken such a step.

Describing the move as bold but considered and informed, the health minister, Jane Ellison, argued in favor of legalizing the procedure, which is designed to help women with mitochondrial diseases. Defects in the mitochondria energy-producing structures outside a cells nucleus can result in a range of complications, including muscular dystrophy and heart, kidney and liver failure. An opponent of the change, Edward Leigh, a Conservative lawmaker and former minister, said before the vote that it was a monumental decision.

If we believe that, sadly, given the nature of the human condition, there are these appalling diseases, where do we stop? he asked, calling for full clinical trials to determine the procedures safety and effectiveness.

We will be the first state to authorize this in the world, Mr. Leigh added. We will be in a unique position, and we should ask ourselves why no other state not the European Union, not the U.S., yet thinks this process is absolutely safe.

If it wins final approval, as seems likely, the technique is expected to be used only sparingly, and in the cases of women who have faulty mitochondria. The resulting embryo would have nucleus DNA from the childs parents but mitochondrial DNA from a donor.

Scientists say that the child would inherit the characteristics of the parent, other than the mitochondrial defect, rather than those of the donor.

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Lawmakers approve technique to allow three people make babies

Ian Tomlinson: Cancer Predisposition and Evolution
Ian Tomlinson, Professor of Molecular and Population Genetics at the Wellcome Trust for Human Genetics, works on the identification of genes that predispose to colorectal and other cancers....

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The personal genomics company 23andMe has identified 35 genetic factors tied to motion sickness, according to a new study published in the journal Human Molecular Genetics.

In what the company says is the first ever genome-wide study looking at motion sickness, 23andMe was able to determine several genes that may be tied to the nausea associated with movement in a car or on a boat. Motion sickness affects around one in three people, and prior research has suggested that it could be hereditary.

The researchers, who are employed by 23andMe (or have been in the past) and own stock options in the company, used genetic data from more than 80,000 23andMe customers. They found that many of these genetic factors were involved in balance, eye and ear development and the nervous system. Overall, the effect appeared to be stronger in women.

Read more: Genetic Testing Company 23andMe Finds New Revenue With Big Pharma

The study also found links between risk for motion sickness and a greater likelihood of having migraines, morning sickness and vertigo.

Its still unclear what the actual drivers are, and even if a person has the gene variants linked to motion sickness, it doesnt mean they will definitely have the condition. Genome-wide association studies like the one performed by 23andMe can only find correlations, but theyre still useful strategies for finding at-risk genes.

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23andMe Finds Genes for Motion Sickness

By SHIRA POLAN

Prof. Amy Williams, computational biology, is most likely not your relative, at least within the last 10 generations. But the newly instated Cornell professor spends much of her time studying your family tree or rather, the genetic tree of all modern humans in order to better understand the complex history of human demographics.

Williams, a graduate of the University of Utah, first became interested in population genetics and parent-to-child genetic transmission during her Ph.D. work at the Massachusetts Institute of Technology.

I went to grad school expecting to do very traditional computer science but ended up taking a genetics class for my minor [and] really just fell in love with it, she said. For my Ph.D., I ended up developing an algorithm for inferring the way in which DNA gets transmitted from parents to children in single families. I then got a postdoc in a human population genetics lab and have continued to fall in love with the discipline.

Following graduate school, Williams pursued postdoctoral positions at Harvard Medical School and Columbia University before beginning research as an assistant professor in the Department of Computational Biology and Population Genetics last April.

Next fall, Williams will teach a course that will serve as an introduction to computational biology.

[The class] will likely be aimed at individuals who have a little bit of computational background. Well talk about the ways of analyzing genetic data and will begin by asking, What is the human genome? she said. This is something you can download off the Internet and read off all those letters, but how was it actually generated?

Williams said she considers her field of computational biology to be very broad, referring to the many applications computers have in the realm of biology.

Its anything from trying to predict how a protein will fold using computers, to trying to infer relationships between individuals on the basis of their genetic makeup, to comparing the genetic makeup of different species in order to learn about evolution, to methodologies for performing genome-wide association studies that attempt to identify genetic variants that affect a given trait or disease, she said.

One specific application of Williams work is the characterization of haplotypes, a series of genes that occur on a single chromosome and are likely to be inherited together.

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The Scientist: Professor Amy Williams Maps Genes, Tracks Risk of Disease

"Life expectancy for a child with mitochondria is very short, very short. And I think that's devastating for a woman"

Mothers day may be about to get more complicated in the UK after parliament voted to allow a three-parent IVF technique.

It is designed to eliminate the possibility of mitochondrial diseases being transmitted to children. As these come through mothers only, the technique removes faulty DNA, replacing it with healthy material from a female donor.

This will be the first time that we would intentionally manipulate the human genome. It is something that governments around the world have agreed for the last 20 years that we shouldnt do, and once you cross that line, then its very hard to stop going down the slippery slope to designer babies, says the Director of Human Genetics Alert Dr. David King.

Advocates say it would be cruel to continue to allow the incurable disease to occur which affects around one in every 6500 births, and 11 international campaign groups are supporting the British government to take the unprecedented step.

When you have a baby, and find out that your babys ill or got something that youve got, and life expectancy for a child with mitochondria is very short, very short. And I think thats devastating for a woman, says Olivia Seaby, who carries the defective DNA.

Few would dispute man is playing God in this case, but a kindly and benevolent one. The danger, say some, is once the precedent is set, characteristics some maintain add variety and richness to the human experience will be airbrushed away.

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Britain's parliament allows human genome manipulation for first time