Section 377A constitutional challenge: Expert evidence reveal sexual orientation cannot be changed at will, lawyers argue – The Online Citizen

The legal team advocating the repeal of Section 377A of the Penal Code which criminalises acts of gross indecency between men argued before the High Court on Mon (18 Nov) that sexual orientation is a product of genetic and environmental factors, and cannot be changed at will.

Lawyers Eugene Thuraisingam, Suang Wijaya and Johannes Hadi of Eugene Thuraisingam LLP, on behalf of applicant DJ Johnson Ong Ming, said that the preponderance of scientific evidence shows that human sexual orientation ranges along a continuum, from completely heterosexual to completely homosexual.

In between are bisexuals who have varying degrees of preference for either sex, the lawyers added.

Homosexuals, like heterosexuals, cannot wilfully change their sexual orientation and/or attraction. There is no credible scientific evidence which supports the proposition that therapy aimed at changing sexual orientation (such as reparative or conversion therapy) is safe or effective, they argued.

Consequently, the crux of the legal teams argument is that Section 377A in the Penal Code violates two provisions in the Singapore Constitution, namely Article 9 of the Constitution which guarantees the right to life and personal liberty, and Article 12 which guarantees equal protection before the law.

Sexual activity between consenting adult males in private, according to Mr Ongs lawyers, neither harms nor impinges upon the rights or interests of any other persons.

Section 377A therefore violates Article 9 and 12 of the Constitution. It is absurd, irrational and discriminatory to criminalise a person on the basis of his natural, unchangeable identity and for non-harmful private acts, they added.

The relevant section in the Penal Code also reinforces the majoritys good old-fashioned discrimination against male homosexuals, who are a minority in Singapore, according to Ongs legal team.

The role of our Constitution and the Court is to protect minorities against the absurd, irrational prejudices of the majority, his lawyers argued.

Three medical experts were called by Mr Ongs legal team in the immediate case, namely:

The Attorney-Generals Chambers (AGC), the respondent in all three cases, called the following experts:

Little to no scientific evidence in support of proposition pinpointing socio-environmental factors as cause for homosexuality and bisexuality, according to medical experts on both sides

Experts from both sides concurred that genetic and non-social environmental factors (like the womb environment) contribute to the causality of sexual orientation and/or attraction.

There is little if any scientific evidence which supports the proposition that social environmental factors (like culture, parenting) play any role in the causality of sexual orientation and/or attraction, said Mr Ongs lawyers.

One of the sources cited by Dr Cai is a study by Bailey, J.M., Vesey, P.L., Diamond, L.M., Breedlove, S.M., Villian, E,M & Epprecht, M. (in press), titled Sexual orientation controversy, and science, Psychological Science in the Public Interest, 2016, Vol 17(2) 45-101 summarises the position, which details the following:

No causal theory of sexual orientation has yet gained widespread support. The most scientifically plausible causal hypotheses are difficult to test. However, there is considerably more evidence supporting non-social causes of sexual orientation than social causes.

This evidence includes the cross-culturally robust finding that adult homosexuality is strongly related to childhood gender non-conformity; moderate genetic influences demonstrated in well sampled twin studies; the cross-culturally robust fraternal birth order effect on male sexual orientation; and the finding that when infant boys are surgically and socially changed into girls, their eventual sexual orientation is unchanged (i.e., they remain sexually attracted to females).

In contrast, evidence for the most commonly hypothesized social causes of homosexuality sexual recruitment by homosexual adults, patterns of disordered parenting, or the influence of homosexual parents is generally weak in magnitude and distorted by numerous confounding factors.

Citing Dr Cais report, the lawyers argued that it can be inferred that Dr Cais findings align with those of Dr Rajesh, who posited that biological and non-social environmental factors influence sexual orientation, and that [e]vidence for the most commonly hypothesised social causes of homosexuality have generally been debunked.

First, Dr Cai states that [s]exual orientation is no unchanging in everyone, and cites studies showing that some individuals have been found to experience spontaneous and naturally-occurring changes in sexual orientation, as opposed to willful changes.

Second, Dr Cai does not cite any literature or study supporting the proposition that sexual orientation can be willfully changed, such as through sexual orientation change efforts, conversion therapy or reparative therapy.

Mr Ongs lawyers also argued that Dr Cai has offered no credible evidence that sexual orientation can be willfully changed.

Studies showing that some individuals experience spontaneous and naturally occurring change in sexual orientation is nothing to the point, they argued, citing two reasons, namely:

i) spontaneous and naturally-occurring change is not willful change as demonstrated by the literature cited by Dr Cai himself; and

(ii) the studies show that close to 100% of homosexual males do not experience even any spontaneous or natural change.

Secondly, said Ongs lawyers, the literature cited by Dr Cai himself supports the point that persons do not experience choice over their sexual orientation and/or sexual attraction.

Ongs legal team added that the literature cited by Dr Cai demonstrates that there is no credible evidence for the purported effectiveness of conversion therapy, reparative therapy, and other forms of intervention to change sexual orientation are effective, which have been known present a significant risk of harm to individuals undergoing such interventions.

Genetics and other biological factors, including non-social environmental factors, contribute strongly to the development of sexual orientation

Another source cited by Dr Cai is a study by Roselli, C.E. titled Neurobiology of Gender Identity and Sexual Orientation, published in Journal of Neuroendocrinology, 2018, which states the following:

Most people experience little or no sense of choice about their sexual orientation. There Is no scientifically convincing research to show that therapy aimed at changing sexual orientation (ie, reparative or conversion therapy) is safe or effective. The origin of sexual orientation is far from being understood, although there is no proof that it is affected by social factors after birth. On the other hand, a large amount of empirical data suggests that genes and hormones are important regulators of sexual orientation

The data summarised in the present review suggest that both gender identity and sexual orientation are significantly influenced by events occurring during the early developmental period when the brain is differentiating under the influence of gonadal steroid hormones, genes and maternal factors. However, our current understanding of these factors is far from complete and the results are not always consistent

Our current understanding suffers from many limitations in the data Despite these limitations, the existing empirical evidence makes it clear that there is a significant biological contribution to the development of an individuals identity and sexual orientation.

Ongs lawyers pointed out thatDr Cai accepted the proposition that it is not disputed by experts in the field that genetics has some contribution to the causation of homosexuality.

Secondly, the lawyers highlighted that Dr Cai cited, in approval, papers which conclude that there can be little doubt that [sexual orientation] is influenced by environmental factors.

The environmental factors referred to by the papers cited by Dr Cai are non-social environmental factors such as the womb environment, not social environmental factors, Mr Ongs legal team highlighted, adding that Dr Cai has already cited various studies and literature pointing to genetic and non-social environmental factors of sexual orientation.

Dr Cai, according to the lawyers, also cited studies indicating that hormones play a part in the causation of sexual orientation, and the fraternal birth order effect play a role in shaping a persons sexual orientation.

Mr Ongs lawyers also rejected Dr Tays assertion that cultural and social environmental factors are also likely to play a role in determining sexual orientation, as the expert has cited no material that supports such an assertion.

This assertion is also demonstrably false, Mr Ongs lawyers argued.

The closed High Court hearing on Mon was the second out of three cases to be presented against Section 377A this month.

The current cases, according to a statement by Mr Ongs legal team, set a precedent in examining legal questions on the nature of sexual orientation, as expert evidence is now presented before the courts.

Previously, the court was only asked to take judicial notice of scientific facts which required a different legal test, Mr Ongs legal team added.

The AGC began its submissions on Mon, and will conclude its submissions at the next hearing on Wed.

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Section 377A constitutional challenge: Expert evidence reveal sexual orientation cannot be changed at will, lawyers argue - The Online Citizen

Co-creator of CRISPR lectures about future applications of genome editing technology – Daily Bruin

A University of California professor and co-originator of genome editing technology Clustered Regularly Interspaced Short Palindromic Repeats said researchers plan to expand the technology in order to increase human applications at a campus lecture series Thursday.

Jennifer Doudna, a UC Berkeley biochemistry professor, engaged students and the greater UCLA science community during the quarterly Donald J. Cram Distinguished Lecture series.

The Cram lecture series, a quarterly departmental event, invites prominent academics in the field of chemistry to speak about their research. The series is dedicated to Donald J. Cram, who was a Nobel laureate and a chemistry professor at UCLA for over 50 years.

This fall, the series was hosted by UCLA chemistry professor and Cram Chair Patrick Harran.

Scientists use CRISPR technology, formally known as CRISPR-Cas9, to modify DNA sequences and gene functions. Cas9 is a protein that can cut the strands of DNA-like molecular scissors.

CRISPR is studied and used by students, scientists and researchers to advance progress in the field of gene editing, in medicine and the life sciences.

The UC holds the largest CRISPR patent portfolio in the nation with 16 total patents, according to a UC Berkeley press release.

The United States Patent and Trademark Office granted the UC, along with the University of Vienna and Emmanuelle Charpentier, the director of the Max Planck Institute for Infection Biology, its 16th patent in October.

Doudnas involvement in CRISPR technology began around 2005, when a professor at UC Berkeley, Jill Banfield, invited Doudna to help her with research into the mechanism. From there, Doudna teamed up with Charpentier, who was working with a CRISPR system and its associated protein, Cas9, in 2011.

Doudna is one of the creators of the CRISPR utility for the permanent excision of harmful genes. Doudna said that she developed the idea for the CRISPR technology in 2011 in collaboration with Charpentier.

During the lecture, Doudna detailed how scientists regulate CRISPR enzymes to modify DNA.

CRISPR is a portion of the bacterial genomic sequence that acts as an adaptive immune system, Doudna said.

Bacteria encode the CRISPR system through viral infections, which allows its genome to recognize foreign DNA insertions. These DNA sequences incorporate themselves into the bacterial genome at the CRISPR locus, a genetic database of past infections.

Doudna said this locus was of unique interest to her.

Those sequences, called CRISPR, are transcribed in RNA molecules that provide the zip codes for Cas proteins, allowing them to recognize foreign DNA and cut it up, Doudna said.

Doudna and Charpentier, with the assistance of their team, were able to realize that CRISPR RNA is a 20-nucleotide sequence, which interacts with DNA in a complementary fashion.

This complementarity allows the protein to form a double-stranded break in DNA, necessitating a second RNA tracrRNA to form this functional unit, Doudna said.

And it was (biochemist) Martin Jinek in our lab who figured out that you could combine these two RNAs into a single guide RNA, Doudna said.

From this experiment, Jinek found that single guide RNAs were used by Cas9 to excise DNA at specific sites in a plasmid, a circular piece of bacterial DNA. The revelation from this was that, upon excision, DNA would repair itself in animals and plants, Doudna said.

Doudna said at the end of her talk that the system is becoming increasingly important in the field of medicine, and is currently being used at UCLA, by Donald Kohn, a professor of microbiology, immunology and molecular genetics.

Were within about five years, maybe less, from being able to make, essentially, any change to any genome in any type of cell, Doudna said.

Doudna stressed that this ability to make changes in the genome comes with bioethical responsibility for genome editing in humans.

Fourth-year biochemistry student Jeremy Shek, who attended the event, said although he had done a project that was an offshoot of CRISPR, he had not heard of the progress Doudna discussed.

It is important to be informed on advancements and progress in the field, he added.

Fourth-year bioengineering student Timothy Yu said he came to the lecture to see Doudna in person and get a more solid grasp on the methodology of CRISPR.

Lexi Omholt, a fourth-year microbiology, immunology and molecular genetics student, said that she came to the talk to understand the basis of CRISPR technology.

Jennifer Doudna was one of the reasons I chose my major, Omholt said. At that time, CRISPR came into popular knowledge, and the knockout tool was just coming into use. I am involved in a cancer lab, the Soragni Lab, that uses CRISPR-Cas9 on a regular basis.

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Co-creator of CRISPR lectures about future applications of genome editing technology - Daily Bruin

Connecting gene mutations, rare genetic diseases – Baylor College of Medicine News

Clinical exome sequencing has revolutionized genetic testing for children with inherited disorders, and Baylor College of Medicine researchers have led efforts to apply these DNA methods in the clinic. Nevertheless, in more than two-thirds of cases, the underlying genetic changes in children who undergo sequencing are unknown. Researchers everywhere are looking to new methods to analyze exome sequencing data to look for new associations between specific genes and those rare genetic diseases called Mendelian disorders. Investigators at theHuman Genome Sequencing Centerhave developed new approaches for large-scale analysis of Mendelian disorders, published today in theAmerican Journal of Human Genetics.

The investigators used an Apache Hadoop data lake, a data management platform, to aggregate the exome sequencing data from approximately 19,000 individuals from different sources. Using information from previously solved disease cases, they established methods to rapidly select candidates for Mendelian disease. They found 154 candidate disease-associating genes, which previously had no known association between mutation and rare genetic disease, according toAdam Hansen, lead author of the study and graduate student inmolecular and human geneticsat Baylor.

We found at least five people for each of these 154 genes that have very rare genetic mutations that we suspect might be causing disease, Hansen said. This shows the power of big data approaches toward accelerating the rate of discovery of associations between genes and rare diseases.

These computational methods solve the dual problems of large-scale data management and careful management of data access permission. saidDr. Richard Gibbs, study author and professor of molecular and human genetics and director of the Human Genome Sequencing Center at Baylor. They are perfect for outward display of data from the Baylor College of Medicine programs.

Exome sequencing currently only diagnoses 30 to 40% of patients, Hansen said. He hopes that diagnosis rate will increase with the discovery of new associations between mutations in certain genes and rare diseases.

The genetics community can now focus on genetic mutations in these genes when they see undiagnosed patients, Hansen said. Since our initial analysis, 19 of these genes have already been confirmed as disease-associating by independent researchers. The collective effort of the genetics community will advance our understanding of these genes and provide further evidence for their potential role in disease.

Other researchers at the Human Genome Sequencing Center who were involved in the study included Mullai Muragan, Donna Muzny, Fritz Sedlazeck, Aniko Sabo, Shalini Jhangiani, Kim Andrews, Michael Khayat, and Liwen Wang.

This work was supported in part by grants UM1 HG008898 from the National Human Genome Research Institute (NHBLI) to the Baylor College of Medicine Center for Common Disease Genetics; UM1 HG006542 from the NHGRI/National Heart, Lung, and Blood Institute (NHLBI) to the Baylor Hopkins Center for Mendelian Genomics; R01 NS058529 and R35 NS105078 (J.R.L.) from the National Institute of Neurological Disorders and Stroke (NINDS); and P50 DK096415 (N.K.) from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

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Connecting gene mutations, rare genetic diseases - Baylor College of Medicine News

Utah researchers discover link between certain brain cells and anxiety, OCD – KSL.com

SALT LAKE CITY Mental health is blamed for a lot of issues plaguing society these days, but scientists and biologists still know very little about whats happening inside the brain that brings on problems in certain people.

A group of researchers at the University of Utah, however, may now have a clue.

Theyve identified a link between a group of specialized brain cells, called Hoxb8-lineage microglia, and obsessive compulsive disorder and anxiety in mice.

Similar to humans, female mice are more susceptible to the anxiety-related diseases, though symptoms were observed in male mice, too. The discovery could lead to the development of drugs better suited to treat and/or prevent anxiety and OCD.

It opens up a new avenue for thinking about anxiety, said Dimitri Trnkner, a lead author of the study and assistant biology professor at the U. Since we have this model, we have a way to test new drugs to help these mice and hopefully at some point, this will help people.

The findings suggest a link between biological sex hormones (estrogen and progesterone) and genetics, two major risk factors for anxiety-related disorders in humans, according to the study published this week in Cell Reports.

Until now, it was unknown whether this subset of microglia, which play a crucial role in brain development in the womb, had any other function at all. The new findings build upon previous mice studies conducted by Nobel laureate Mario Capecchi, also a lead author in the new research.

Capecchi had long suspected this subset of microglia was special in some way, but researchers didnt pick up on certain behaviors related to anxiety, such as overgrooming, until this time around its the first study to describe the role of microglia in OCD and anxiety in this way.

We didnt really know what to make of the fact that mice without Hoxb8 appear so normal, until we noticed that they groom significantly more and longer than what would be considered healthy, said Capecchi, a distinguished professor of human genetics at the U.

To test whether sex hormones drove OCD and anxiety symptoms, Trnkner and his colleagues manipulated estrogen and progesterone levels in the mice. They found that at male-levels, the OCD and anxiety behaviors in female mice resembled the male response, and at female hormone levels, the OCD behaviors in male mice looked more like the females severe symptoms, and showed signs of anxiety.

Scientists want to help these people to get their lives back.Dimitri Trnkner

We have a good understanding of how anxiety is produced in people, but cannot do experiments in people, Trnkner said. Of all models, I have great faith that mice are one of the best models, as they are so similar to people.

He said some of the mice had significant hair loss, were more easily stressed out, or lost their natural fight-or-flight response mechanisms without the protective presence of the microglia in their brains.

It shows that the two phenomena are related.

Researchers have long suspected that microglia have a role in anxiety and other neuropsychological disorders in humans because this type of cell can also release substances to harm neurons.

Its surprising to see that (the microglia) are not causing it, but they can protect from it, Trnkner said, adding that researchers and biologists now have an explanation as to why anxiety-related diseases are more common in women.

This news should give hope ... for many reasons, he said.

Science has long tried to find solutions for people who deal with the life-altering mental illnesses, and Trnkner said this puts everyone that much closer to new drugs to treat them, particularly anxiety.

Scientists want to help these people to get their lives back, he said.

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Utah researchers discover link between certain brain cells and anxiety, OCD - KSL.com

UH Receives $2M to Study Cancer Risks of Environmental Toxins – Big Island Now

The University of Hawaii Cancer Center has received a $2 million grand award to study how human genetics play a factor in the risk of cancers related to environmental toxins and carcinogens. The award, granted by the National Institute of Environmental Health Sciences, will support Center researchers Michele Carbone and Haining Yang over a three-year period.

Carbone and Yang are working in partnership with Joe Grzimek, a researcher at the Desert Research Institute and Renown Health in Reno, Nevada.Together, the team will analyze gene interactions and exposure to environmental contaminants among people living in northern Nevadaan area with high rates of respiratory diseases and cancers.

The region is fraught with a variety of toxins affecting human health including asbestos, arsenic and other heavy metals. Inhaling and ingesting these contaminants is known to cause a number of diseases, including cancer. But only a small percentage of people exposed to these toxins develop cancer, suggesting that genetic inheritance may play an important role in whether people fall ill after exposure to environmental carcinogens.

If this hypothesis proves true, the research will help identify possible risk factors in human genes that may lead to cancer and other diseases, and thereby improve prevention methods and treatments.

The studys genetic research will be done at the UH Cancer Center in Honolulu. Environmental sampling and genetic and statistical analyses will be conducted at the Desert Research Institute.

Affiliated with the University of Hawaii at Mnoa, The UH Cancer Center is one of only 71 research institutions designated by the National Cancer Institute. It aims to eliminate cancer through research, education, patient care and community outreach, while recognizing the unique ethnic, cultural and environmental aspects of Hawaii and the Pacific region.

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UH Receives $2M to Study Cancer Risks of Environmental Toxins - Big Island Now

Genetic testing could keep you healthy. But what about personal info? – Deseret News

LEHI If given a chance, who wouldnt want to spend a few bucks to find out if theyre at heightened risk for one day having to confront some life-changing or life-ending medical malady?

Thats the concept fueling an explosion in direct-to-consumer genetic testing and one thats also elevating ethical debates about how this most personal of information should be interpreted and protected.

Utah-born Ancestry.com is the latest entry into a growing list of companies offering health-focused genetic testing an industry expected to grow to $20 billion annually in the next few years.

While best known and an industry leader for its expertise in providing answers to the Where am I from? question, Ancestry will now expand its genetic testing resources to help people anticipate future health issues and help address, Whats going to make me sick?

Last week, the company that launched more than 30 years ago as a family history search service, later adding DNA testing to help customers identify their geographic ancestral roots, announced its new, health-focused genetic testing service.

AncestryHealth will offer two levels of genetic testing that the company said will deliver actionable insights that can empower people to take proactive steps in collaboration with their health care provider to address potential health risks identified in their genes and family health history.

Ancestry CEO Margo Georgiadis said the new genetic tests will help clients proactively manage their health care needs, armed with new insight on what conditions they may be predisposed for, based on genetic evidence.

Your genes dont need to be your destiny, Georgiadis said in a statement. Understanding your familial and inherited health risks can help you take action with your doctor to improve your chances of better health outcomes.

For more than three decades, Ancestry has empowered journeys of personal discovery to enrich lives. In the same way that knowledge of your family and ethnicity helps you understand your past to inspire your future, knowledge of your genetic health profile and any associated risks can help you be proactive in managing the future for you and your family.

The two testing products, according to the company, include AncestryHealth Core, which uses the companys current genotype genetic assessment technique to detect genetic differences and deliver personalized reports related to health conditions such as heart disease, hereditary cancers, blood-related disorders, and risks for carrier status of health conditions, such as Tay-Sachs disease. The one-time test costs $149 and also includes the companys family history report. Those who have already submitted a biologic sample to the company can get the new genetic report for $49.

While likely not available until sometime in 2020, the AncestryHealth Plus will use more current, genetic sequencing technology that will provide greater coverage of DNA differences for each condition and more risk categories such as those related to potentially developing heart disease, cancers, and disorders related to blood, the nervous system and connective tissues. The sequencing test will require a $199 activation fee, which the company said includes the first six months of membership and an additional $49 membership fee every six months. Existing Ancestry customers will be able to upgrade to AncestryHealth Plus for an initial payment of $49.

Ancestrys testing regimen will assess genetic samples and indicate predispositions for high cholesterol and cardiomyopathy, which can lead to heart disease; hereditary indicators for breast, ovarian, colon and uterine cancers; and blood disorders including abnormal clotting and iron overload. The testing can also determine if the sample donor is a gene carrier for cystic fibrosis, sickle-cell anemia or Tay-Sachs disease, a fatal nervous system disorder that most commonly occurs in children.

Unlike its competitor, 23andMe, which has earned U.S. Food and Drug Administration approval for providing genetic test results directly to customers without a physicians participation, Ancestrys genetic testing service requires a physicians order to conduct the tests and the company says it has contracted with a private network of independent physicians and genetic counselors who participate in the process. Ancestrys health testing service also connects customers to educational information, including access to genetic counseling resources and provides printable and consumer and physician-ready reports that provide guidance for next steps an individual and their health care provider can take together.

Lynn Jorde, chairman of the University of Utahs Department of Human Genetics and executive director of the Utah Genome Project, said while labs are now capable of sequencing the entirety of the human genome some 3 billion genetic basis pairs the microarray technique currently used by Ancestry evaluates a small window of genes that, if a variation is found, have a viable medical response.

What theyre looking at is specific changes in the DNA that we know about in specific instances ... and are often called actionable genes, Jorde explained. If you have a disease causing variant here, there is actually something we can do about it.

Jorde said while some genetic markers, like those for cystic fibrosis, indicate a high probability that you have or will develop that condition, many more are merely suggestive.

The predictive power of genetic testing is getting better and better, but it will never be perfect, Jorde said. For many of these conditions, there are nongenetic components that impact risk.

Jorde said things like environment, diet and exercise/activity level can play a significant role in an individuals risk of developing an illness or disease.

Teneille Brown is a professor at the University of Utahs S.J. Quinney College of Law and an expert in health law and medical ethics. In an interview, she noted direct-to-consumer genetic testing services, now being offered by dozens of companies according to the National Institute of Health, are occupying a space thats in between current regulatory boundaries aimed at protecting individuals privacy rights.

In the research realm, any federally funded projects are subject to stringent privacy rules, Brown said. That is also the case for health care institutions that handle genetic material, under (Health Insurance Portability and Accountability Act) rules.

But the big databases being built by testing companies are outside of the federal funding process and are not health care providers, so the HIPAA rules dont apply, Brown said.

Ancestry appears to underscore this by noting, in its user agreement, that it is not a covered entity under HIPAA rules.

Brown noted that in addition to unanswered questions about privacy protections, genetic test results can lead to deep emotional impacts for tested individuals, either through the discovery of gene markers that are suggestive of some future medical challenge or, less obviously, when a clean test is returned, which may provide an inaccurate suggestion that theres nothing to worry about.

Theres a huge problem when it comes to understanding what these risk scores mean, Brown said. The predictive values of these results is widely variable, including what is, or is not, implied by failure to find a specific marker.

Brown said genetic testing companies have wide-ranging policies regarding sharing an individuals genetic test results or stored biologic samples with third-party researchers. Ancestry, for example, says it will only share your information if youve given them specific permission to do so, through its informed consent agreement.

While the regulatory world is lagging behind the fast-moving development of genetic testing technology, Brown said she believes the bigger companies, including Ancestry, are working to create appropriate protections for their customers. And, she added, the growing body of knowledge being accumulated by this work could lead to groundbreaking advancements in treatments for serious diseases.

These companies might play a role in developing amazing drugs and therapies, Brown said. Collectively, they are adding all of this amazing content, providing pedigrees and information and incredibly powerful databases ... and a lot of good can come of it.

Its not at all sinister, but we need consumers to know what theyre submitting and being diligent about potential secondary uses of that data. More robust consent requirements for users and strict limitations for secondary uses are certainly in order.

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Genetic testing could keep you healthy. But what about personal info? - Deseret News

Student group works to foster diversity in the sciences – UChicago News

When Christian Porras came to the University of Chicago three years ago, he knew he had a passion for science. What was less apparent to him was how to chart a path from first-year student to research scientist.

As a first-generation college student from a low-income household, Porras didnt know anyone who had taken a similar path. That changed when he connected with the UChicago chapter of the Society for Advancement of Chicanos/Hispanics and Native Americans in Science.

SACNAS became this community, this family for me. It removed some of the uncertainties about my professional goals because I was able to talk to people who were further down the path, Porras said. Now a fourth-year majoring in biological sciences, Porras is undergraduate president of the campus chapter.

This month, SACNAS named the UChicago group chapter of the year for demonstrating significant accomplishments and activities across five areasrecruitment and membership retention, professional development, community outreach, chapter development and fundraising.

One reason for the honor was a regional conference that the leadership team of the UChicago chapter planned earlier this year. They oversaw the 2019 Midwest Regional SACNAS Conference, which brought more than 200 students from the Midwest and around the United States to UChicago for a day of research presentations and professional development.

With the theme Empowering through Boundaries, the conference focused on inclusion and helping students overcome the challenge of breaking through career obstacles. Workshops covered a range of topicsfrom crafting compelling academic applications to including disabilities in discussions about diversity.

This award is an acknowledgement and appreciation of all the hard work that our chapter has put in, not just this year, but over the course of its history at UChicago, said Juan Manuel Vazquez, graduate president of the organization and a fifth-year PhD student in the Department of Human Genetics. He served as chair and lead for the 2019 Midwest conference.

The UChicago chapter of SACNAS was formed in 2016 and became a registered student organization in 2018. The organization has about 50 members, however, its events are open to all students and draw people from different backgrounds and disciplines. Lucia Rothman Denes, the A. J. Carlson Professor in the Department of Molecular Genetics, serves as its faculty adviser.

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Student group works to foster diversity in the sciences - UChicago News

Takeaways from ASHG 2019 in Houston: Users of Bionano’s Saphyr System Presented Validation Results for FSHD, Repeat Expansion Disorders and Digital…

SAN DIEGO, Oct. 24, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets Saphyr, a platform for ultra-sensitive and ultra-specific structural variation detection in genome analysis, today announced the key takeaways from presentations given between October 15-19 by scientists from top institutes and diagnostic companies at the American Society of Human Genetics (ASHG) Annual Meeting and at Bionanos satellite educational event in Houston, TX.

At ASHG and at the satellite education event held prior to the conference and organized by Bionano, clinicians and researchers using the Saphyr system to analyze samples from patients with genetic diseases and cancer presented a series of new findings and validation results that support the adoption of Saphyr as a complement to next-generation sequencing for variant discovery and as a replacement for traditional cytogenetic methods in variant detection for clinical applications.

Alka Chaubey, Ph.D., Head of Cytogenomics at PerkinElmer Genomics summarized the validation of Saphyr technology by PerkinElmer that enabled the development of PerkinElmers assay for Facioscapulohumeral Dystrophy (FSHD), which PerkinElmer and the University of Iowa developed based on the Bionano EnFocus FSHD Analysis tool. Dr. Chaubey presented 100% concordance between the assay and known disease state for publicly available cell lines, and 100% reproducibility among all runs and all FSHD patient samples at multiple test sites and with multiple operators.

Joe Devaney, Ph.D., Associate Director of R&D of diagnostic company GeneDx presented a Saphyr validation study for the detection of the disease-causing variants in FSHD and repeat expansion disorders such as Mytonic Dystrophy 1 and 2. For the 40 samples genotyped for the contraction causing FSHD and the 36 samples genotyped for CNBP gene expansion that causes Mytonic Dystrophy 2, the results generated with Saphyr had a sensitivity, specificity and Positive Predictive Value of 100%.

Dr. Gokce Toruner from the MD Anderson Cancer Center demonstrated 100% concordance between data generated with Saphyr and structural variant data generated with gold standard cytogenetic methods in five bone marrow specimens with hematological malignancies. All previously identified cytogenetic abnormalities detected by karyotyping, FISH or microarray analysis were detected by Saphyr. In addition, several novel structural and copy number changes were detected.

Professor Mark Ebbert from the Mayo Clinic used Saphyr to resolve challenging genomic regions implicated in neurodegenerative diseases on 31 brain samples collected post-mortem from patients with ALS, Parkinsons disease, and Alzheimers disease. One of the causes of ALS is an expansion of a repeat in a gene called C9orf72. While no technology commonly used today for genome analysis has been capable of spanning and measuring the larger repeat expansions of this gene, Dr. Ebbert was able to use the Saphyr system to size a range of expansions from a single brain biopsy, demonstrating a full continuum of mosaicism. In patients with Parkinsons disease, Saphyr resolved the structure of an inverted triplication of an associated gene. In patients with Alzheimers disease, Saphyr detected structural variants in CR1, an important gene with a repeat structure that cannot be fully analyzed with next-generation sequencing, and detected inversions in the Tau gene that protect against the disease.

Frances High, MD., Ph.D., from Massachusetts General Hospital for Children at Harvard University presented results of a study on 19 samples from patients with Congenital Diaphragmatic Hernia (CDH), a common and severe structural birth defect that leads to malformation for the developing lungs. Using data from the Saphyr system, Dr. Highs team confirmed all high-confidence structural variants that were detected by cytogenetic methods, provided additional higher-resolution detail and elucidated the structure of several, and identified novel likely causative variants. Dr. High announced an upcoming larger study of 50 patient-parent trios, or 150 samples total, to identify novel structural variants that are causative for this disease.

Professor Jennifer Mulle from Emory University School of Medicine used the Saphyr system to study a genetic syndrome characterized by intellectual disability, autism and a 40-fold increased risk for schizophrenia. She identified a high degree of previously undocumented structural variation in the disease region, identified a new gene previously not known to be involved in the disease, and was able to develop a new hypothesis about the disease mechanism from the data generated by Saphyr.

Professors Eric Vilain and Hayk Barseghyan from the George Washington University and Childrens National Medical Center presented a number of cases from the Undiagnosed Diseases Network, patients with Disorders of Sex Development, Gitelmans Syndrome, FSHD and Beckwith-Wiedeman syndrome where Bionano was able to provide a molecular diagnosis, identify new likely causative genes, or identify structural variants affecting known or expected disease genes.

Other talks included those by Professor Claudia Carvalho of Baylor College of Medicine, who used data from the Saphyr system to analyze repeat-mediated inversions, which are complex genomic structures that are hard or impossible to resolve with other molecular methods but can predispose to genetic disease; Tina Graves-Lindsay from the McDonnell Genome Institute at Washington University, who corrected structural errors in the official human reference genomes with data generated with Saphyr; and Amir Trabelsi, CEO of Genoox, who announced the new release of a software pipeline that now automatically validates, annotates and classifies Bionano translocation calls from whole genome sequence data.

Erik Holmlin, Ph.D., CEO of Bionano, commented, The quality of the studies presented and wide variety of applications for Saphyr in genetic disease and cancer research is continuing to increase. Data generated by the Saphyr system are answering difficult questions in complex genetic diseases that have been historically very challenging according to each of the presenters who described their experiences with Saphyr. The validation studies for FSHD, repeat expansion disorders and hematological malignancies are setting the stage for Saphyr to become a routine tool in research and clinical settings. We are grateful to all our customers and collaborators for their inspiration and for their work in showing what Saphyr can do.

More information about Bionano Genomics is available at http://www.bionanogenomics.com.

About Bionano GenomicsBionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to drive the adoption of digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including among other things, adoption of Saphyr as a routine tool in research and clinical settings and the effectiveness and utility of the Saphyr system in such settings. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

Contacts

Company Contact:Mike Ward, CFOBionano Genomics, Inc. +1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

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Takeaways from ASHG 2019 in Houston: Users of Bionano's Saphyr System Presented Validation Results for FSHD, Repeat Expansion Disorders and Digital...

DNA research holds the keys to human history but it’s being weaponized by politicians – Haaretz

Prime Minister Benjamin Netanyahus Twitter account blew up in July in the wake of an extraordinary tweet: A new study of DNA recovered from an ancient Philistine site in the Israeli city of Ashkelon confirms what we know from the Bible that the origin of the Philistines is in southern Europe. ... The Palestinians connection to the Land of Israel is nothing compared to the 4,000 year connection that the Jewish people have with the land.

Netanyahu, like the hundreds of people who replied to the tweet, interpreted the study as overwhelming proof of Jewish ownership of the Land of Israel and proof that the Philistines who share an etymological history with the Palestinians were new immigrants, having arrived here just 3,000 years ago. Officials from the Palestinian Authority were quick to say that Palestinians are the descendants not of the Philistines but rather of the Canaanite Jebusites, who were ostensibly the original inhabitants of the land.

Netanyahus tweet came a few days after the publication in the magazine Science advances of a study by researchers from Germanys Max Planck Institute for the Science of Human History and the Leon Levy Expedition. The researchers sampled DNA from 10 skeletons found in Ashkelon and concluded that their gene pool came from southern Europe. The finding supports the accepted theory that the Philistines migrated from the area of Greece and settled along what is today Israels southern Mediterranean coast.

The studys authors, however, were infuriated by the prime ministers tweets. They considered responding but decided it might give the tweets more exposure. Netanyahus political spin on the research upset many scholars, who saw it as an example of the danger inherent in bringing genetics into the study of human history. Critics fear that used incautiously, genetic research not only has the potential to distort history but also can become a tool for racist propaganda in the hands of extremist politicians and groups.

The ability to extract and sequence DNA from samples that are thousands and even hundreds of thousands of years old has led to significant breakthroughs in the study of evolution. By sequencing Neanderthal genomes, scientists have learned about the health, physical appearance and settlement patterns of Neanderthals. Even more important, DNA research led to the discovery of formerly unknown hominids. The most famous being the Denisovans, which was discovered only thanks to a single finger bone found in a cave in Siberia, from which its owners genome was sequenced. The researchers were also able to determine that most modern human beings carry genes from Neanderthals, Denisovans and additional, as-yet unidentified hominids.

Broad brush

These successes led researches to apply genetic tools to later periods, and according to some critics that is where the danger lies. A study published last week in Science Magazine of 4,000-year-old graves in southern Germany determined, using DNA and as well as the objects with which their occupants were buried that the wealthiest men were locals. Poor men, servants and most of the women came from elsewhere, and most of the high-status women were apparently sent to other communities. One can only manage the political conclusions that could be drawn from the study.

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The problem isnt with the research itself, says Raphael Greenberg, a professor of archaeology at Tel Aviv University. Say I want to know about the connection between the Levant and the Greek region. I have various ways to examine it: pottery, inscriptions, symbols, language, and now something new has been added to my arsenal. Thats great, no one will deny that its useful. The problem is that DNA research has an element of magic to it. Only a few laboratories carry out these tests, at very high cost, and no one can argue with them, Greenberg says. He adds that their operators dont make do with presenting their findings; they go on to interpret the results. He believes that DNA researchers should leave conjectures about population migrations to the relevant experts.

The disagreement surrounding Who We Are and How We Got Here: Ancient DNA and the New Science of the Human Past, by Harvard geneticist David Reich, illustrates Greenbergs argument. Reich is considered the most important researcher in the area of ancient DNA, but his critics attack him for reducing complex historical process into simplified sound bites. He has lost some of the soul of what archaeology and sociology are, wrote Anna Linderholm of Texas A&M University in a review published in Current Anthropology. With his investigations he is painting with large brushstrokes a picture of our past, and in doing so, he might be missing some of the finer points. Who we are is much more than the genetics.

Critics argue that genetics alone cannot tell the complex story of the exchange of genetic material between two population groups, which involves not only migrations but also trade, war and the taking of male and female prisoners.

Gene sequencing, says Prof. Assaf Yasur-Landau of the University of Haifa, is a completely new tool whose potential we dont yet understand.... The danger is in making the connection between genetics and cultural. Its absolutely forbidden and borders on racism.

My granny was a Philistine

The dispute over the archaeological use of DNA is part of a broader discussion. Last year Reich published an opinion piece in The New York Times in which he argued that scientists should stop denying the existence of genetic differences between human population groups, rather than viewing race as entirely a social construct with no biological basis.

It is important to face whatever science will reveal without prejudging the outcome and with the confidence that we can be mature enough to handle any findings. Arguing that no substantial differences among human populations are possible will only invite the racist misuse of genetics that we wish to avoid, Reich wrote.

In an open letter produced by a group of 67 scientists and researchers and published on BuzzFeed, they attacked Reichs approach and warned against returning to a racial-genetic understanding of humanity.

Human beings are 99.5% genetically identical.... [Y]ou could genotype all Red Sox fans and all Yankees fans and find that one group has a statistically significant higher frequency of a number of particular genetic variants than the other group.... This does not mean that Red Sox fans and Yankees fans are genetically distinct races, they wrote.

Michal Feldman, an Israeli geneticist who works at the Max Planck Institute, was the lead author on the article on the skeletons from Ashkelon. Were trying to be cautious in our research and also in our press releases, and to explain exactly what we found, she says. We said we saw a genetic component that came from southern Europe, but that it disappeared after 200 years despite the fact that culturally they were still Philistines. Feldman agrees that the genetics must be separated from culture. Theres no such thing as a pure population or separate groups. Only a tiny part of the genome, 0.01 percent, attests to the origin, and most of the genes within that part are of no importance.

Nimrod Marom, an archaeo-zoologist at the University of Haifa, says the danger is of reducing the discussion to the question, Where did your mother come from?. He says that DNA research is more interested in the origin of the Philistines grandmother than in the way he lived here. In the end it doesnt say much about me and doesnt say much about anyone, he says. We get annoyed today when thats done to us, when we are categorized according to where we came from, so theres no reason not to be annoyed when its done to people from other periods.

Greenberg also believes that the danger of reductionism in genetic studies is much greater than getting an inaccurate picture of the past. We object to these classifications in our daily lives, we dont want to be defined by something that we dont see and have no control over. We want to say who we are by what we think and what we identify with. This method expropriates our identify from us. It says your identity isnt your religion and it isnt the food that you like, its what we tell you it is. Theres not really any such thing as the original inhabitants of this land.

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DNA research holds the keys to human history but it's being weaponized by politicians - Haaretz

Scientists have created the first-ever 18-carbon ring, a major feat of molecular architecture – Massive Science

Have you ever wondered why you wash your rice or soak it overnight before cooking it? Perhaps you wash your rice grains to enhance taste, reduce starch levels, or maybe that's just the way your family has always prepped rice. Thanks to a tip from science communicator Samantha Yammine who came across Dr. Nausheen Sadiq's neat finding while live-tweeting a forum on Diversity and Excellence in Science it turns out there is another reason why, as washing rice actually helps reduce the concentration of heavy metals, like chromium, cadmium, arsenic, and lead.

Heavy metal contamination in crops can be caused by human activities, such as mining, fertilizers, pesticides, and sewage sludge. Compared to most cereal crops though, rice (Oryza sativa L.) actually accumulates more heavy materials, like cadmium or arsenic, where long-term heavy metal intake can cause health risks. For example, long-term arsenic exposure leads to skin disease, high blood pressure, and neurological effects. This is especially important to consider as rice is a staple food across the globe.

Heavy metal contamination in crops can be caused by human activities, such as mining, fertilizers, pesticides, and sewage sludge.

Photo by TUAN ANH TRAN on Unsplash

In a recent study, researchers investigated the effects of different cooking methods (normal, high-pressure and microwave cooking) on the concentration, bio-accessibility and health risks posed by three heavy metals (cadmium, arsenic and lead) in two strains of brown rice. After cooking 100 grams of brown rice grains, researchers evaluated bioaccessibility (i.e. how much of the heavy metal is released for absorption) by mixing rice samples with simulated gastric fluid, and then used spectrometery to measure heavy metal concentration. Lastly, the researchers calculated the health risk posed by the heavy metals by calculating values such as the average daily dose.

Overall, the researchers found that instead of the three different cooking methods, it was the washing process which significantly reduced concentrations of cadmium, arsenic and lead, suggesting that the reduction may be due to rice morphology. For example, lead is found largely in the outer compartments of rice kernels, so lead is more likely to be removed during rice washing.

In contrast, the three cooking methods did impact bioaccessibility i.e. how much of the heavy metal would be released for absorption by the body. Here, washing and soaking isn't enough as rice absorbs water poorly at 25C. This finding was also reflected in calculated values: the average daily doses of cadmium, arsenic and lead were lower in washed and cooked rice, compared to raw rice.

It's worth noting that the European Commission has enforced limits on heavy metal levels - for example, arsenic is currently limited to 200 parts per billion (ppb) for adults and 100 ppb for infants. Both the U.S. and Canada currently have no limits in place for arsenic in food though Canada is currently reviewing a proposal to add maximum levels for arsenic found in white and brown rice, while the U.S. FDA has previously released a (non-binding) risk assessment, suggesting the same 100 ppb levels as Europe.

So the takeaway here is that yes, your family and all those professional chefs have been right all along. Yes, washing rice involves sacrificing some of its nutritional value, but doing so means you can reduce the levels of heavy metals present in grains, and still enjoy dishes like rice cakes. And returning back to Yammine's reporting, Saudiq actually shared that by soaking and washing rice for ~5 mins, you can get rid of 50-100% of these elements. (Thanks Sam!)

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Scientists have created the first-ever 18-carbon ring, a major feat of molecular architecture - Massive Science

Law, Privacy and Genome Human Rights Failure in Russia – Putin’s Fascination with Hitler’s Eugenics Project – Communal News

The Human Genome Organization (HUGO) and the European Union developed genetic information privacy regulations to protect the public. A majority of experts have agreed for the need for genetic information privacy. In 2014 the HUGO Committee on Ethics, Law and Society (CELS) presented a human rights approach to an international code of conduct for genomic and clinical data sharing. The code of conduct is supposed to prevent human rights violations during the research of genomes, allowing enough protection to allow scientific research in the genome field.

However, China and Russia do not have any protections. China is actually attempting to collect such information on all its citizens. China is not new to human rights violations. Russian lawyers have been raising concern, but thus far no laws have materialized, nor does Russia believe in the HUGO conduct policies. Russia relies on its constitution Section 21, but in reality it does not protect genetic information whatsoever. In the US, HIPPA (the Health Insurance Portability and Accountability Act) was modified to include genetic information as medical information pertaining to privacy.

Putin is fascinated with Hitlers eugenics project. This summer it was announced that the Russian military will be assigning soldiers based on their genetic passport. The project involves not only the assessment of their physiological state, but also a prediction of their behavior in critical situations in combat.

Also Putin, issued a decree in March 2019 that consists of social engineering propaganda to collect its citizens genetic information under the guise of protecting Russians from a western chemical or biological attack. A proposal was raised this week to add additional amendments to make the project country wide and disregard privacy laws. This would further violate the human rights of Russian citizens and forcefully gather and store their genetic data.

The second phase will be implemented at the beginning of 2020 to start testing all potential cosmonauts and even intelligence officers. The Russian Academy of Sciences is in charge of the project, which is sounding more like a Nazi eugenics operation for the master race. The Russian Academy of Sciences consists of the national academy of Russia, a network of scientific research institutes from across the Russian Federation.

HUGO code of conduct main principles:

Russia is violating human rights and the Kremlins direction into a eugenics program is a direct violation of the HUGO code of conduct and the rights of Russian citizens. Putin is a danger to the West.

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Law, Privacy and Genome Human Rights Failure in Russia - Putin's Fascination with Hitler's Eugenics Project - Communal News

Neural activity plays an important role in longevity – CMU The Tartan Online

While we have long known that neural activity in the brain is responsible for disorders such as dementia and epilepsy, recent research conducted by scientists in the Blavatnik Institute at Harvard Medical School (HMS) has shown that it also plays a role in human aging and life span.

The study was published in Nature on Oct. 16. Researchers observed mice, worms, and human brains and found that a lot of activity in the brain is correlated with shorter life spans. As such, suppressing brain activity extends life spans. This is the first piece of evidence that supports the hypothesis that nervous system activity impacts longevity in humans. Past studies have demonstrated that portions of the nervous system affect animal aging, but no prior work has shown similar effects in humans.

An intriguing aspect of our findings is that something as transient as the activity state of neural circuits could have such far-ranging consequences for physiology and life span, said study senior author Bruce Yankner, professor of genetics at HMS and co-director of the Paul F. Glenn Center for the Biology of Aging in a HMS press release.

A chain that affects longevity, the insulin and insulin-like growth factor (IGF) signaling pathway, is apparently where neural excitation acts. An integral portion of this signaling cascade is RE1-Silencing Transcription (REST), a protein that the Yankner Lab has shown prevents brains from developing dementia and other disorders.

Neural activity is defined as all of the electrical currents and transmissions contained within the brain. Neural excitation can result in many outcomes such as a muscle twitch or a change in our mood. As for mood, the study has not yet shown if someones thoughts, personality, or actions change their lifespan.

An exciting future area of research will be to determine how these findings relate to such higher-order human brain functions, said Yankner.

Yankner and his colleagues looked at gene expression patterns in donated tissue from people who died between the ages of 60 and 100. None of these adults had dementia.

They found that those who were alive for more than 85 years expressed neural excitation genes to a lesser extent than those who died between the ages of 60 and 80. In order to test if these results were due to correlation or causation, the researchers conducted many experiments on C. elegans, genetically altered mice, and more brain tissue.

They found that blocking REST, a protein responsible for suppressing gene expression and neural activity, caused higher neural activity and earlier deaths. Centenarians brains contained more REST than those who died earlier.

Thanks to this study, the development of new therapies that can treat conditions involving neural excitation such as Alzheimers disease or bipolar disorder is imminent. In addition, the scientists have found that some forms of medicine like drugs that target REST or some actions such as meditation may be capable of increasing lifespan through the modulation of neural activity. Since human variation in neural activity may have both environmental and genetic causes, this study has opened up future avenues for therapeutic intervention.

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Neural activity plays an important role in longevity - CMU The Tartan Online

Book Summary: Genetics and the Aryan Debate by Shrikant Talageri- I – IndiaFacts

There are two theories regarding thehistory of ancient Indian civilization. The first is the AIT or the AryanInvasion Theory, postulating that a group of people from South West Russiaspeaking Indo-European languages (or Aryan languages) entered India in thesecond millennium BCE; and conquered North India establishing their language,culture, and religion all over. A modified version is the AMT or the AryanMigration Theory, which holds that there was no invasion, but a gradual and a tricklingmigration into an existing culture. The semantics may be slightly different,but the implications remain the same. This AIT/AMT story has a two-centuryhistory of propagation and relies on three academic disciplines: Archaeology,linguistics, and textual/inscriptional data. The textual data is mainly theVedas.

The author says that the weight of theevidence in the above three fields strongly support, in fact, the rival theorycalled the OIT or the Out of India theory, which sees India as the originalhomeland of the languages and people of the West. The Proto-Indo-European (PIE)group of languages started the speculation of an original Indian homeland in1800, but it went into complete hibernation as scholars vigorously propagatedthe AIT theory for more than a century. The reasons were many.

Koenraad Elst in his wonderful preface saysthat the political applications of the racially interpreted AIT include:

Talageri, Koenraad Elst, Nicholas Kazanas,Russian scholars Igor Tonoyan-Belyayev, and Aleksandr Semenenko are some OITscholars arguing their case strongly as the theory gained ground once again in1990. The AIT scholars, when confronted with evidence shaking their veryfoundations took the following routes to respond: by calling it a migrationrather than an invasion; by denying it completely; by questioning the validityof the data; by questioning the personal identities and moral values of theauthors; by avoiding them in public forums on the issue; and finally, by shuttingtheir eyes and ears, completely ignoring them.

But a saviour came. A saviour called TonyJoseph riding on a shining horse called genetics. Tony wrote a series ofarticles, finally culminating into a book called the Early Indians where hecollects all the genetic evidence to finally show that Aryans did enter Indiaand create the caste system. The AIT proponents are no wonder ecstaticallyhugging him. There is complete ignoring of the archaeological, linguistic, andthe textual sources, and they recede into the background. And now Talageristeps in.

WERE THE HARAPPANS DRAVIDIAN-LANGUAGESPEAKERS?

The Indus or the Harappan script is not yetdeciphered, but it is antique predating the Indo-Iranian languages and theVedic Sanskrit of North-West India. The Harappan language even predates theDavidian languages spoken in the South. In the absence of any recorded foreigninvasions historically, it would be reasonable to assume that the Indus orHarappan language would have been an ancestor to the Indo-Iranian languagefamily of the same region, used at a much later date.

AIT proponents are very keen to establishby circular reasoning that the Harappan language is the precursor to theDravidian family of languages; and that the evidence for linking Harappan tothe Indo-Iranian language family is absent. Remember the Aryans came fromoutside to establish their language of Sanskrit by force.

Talageri says that the evidence for linkingthe Harappan language to the Dravidian language family is even more absent.It is more logical to think of a continuity as the Harappan language developinginto the Indo-Iranian languages of the North. But that would be a deathblow tothe entire edifice of the Aryan-Dravidian debate and the chronology of eventswhere the Aryans forced their way into a Harappan culture and drove then South.

The standard story claims that Aryansdeveloped their Sanskrit and wrote the Vedas; and the Dravidians- dominated andsubjugated- continued with altered forms of an original Harappan language. Theevidence for all these speculations is very weak according to Talageri. Palliis a word for a village or a hamlet, and it is a Dravidian word. The nameplaces in coastal and south-western Maharashtra have a lot of vali or olias suffixes which could be derivation of the word palli. And thusproved, that the Dravidians migrated along these places on coastal andsouth-western Maharashtra to the South of Vindhyas!

What about the Brahuis of Baluchistan, anisolated Dravidian language in Pakistan? Tony Joseph quotes the now abandonedtheory that some pastoralists stayed back in Baluchistan, while the urbanitesmoved south. However, it is very clear by the voice of many scholars that theDravidian languages mainly concentrate in the south, though there are a few inthe tribal areas of the Bengal region. The presence of Dravidian language inthe Baluchistan region is the result of a recent northward migration from thesouth, as all linguists now accept.

Talageri says that the idea of the urbanand pastoralist segments of the Harappans referred to by Tony Joseph is strangeand funny. One of the proofs that the Rigvedic Aryans are not identifiable withthe Harappans is that the Rigvedic Aryans were pastoralists and noturbanites, according to AIT groups. Talageri quotes scholars who stronglyfeel that the Vedic collection is not the output of wandering pastoralists, butrather well-fed priests in a prosperous urban community!

Similarly, if palli as root of thewords vali and oli come to usage in the geographicalreconstructions of migrations; then the author suggests that the Greek placename suffix polis (as in Persepolis, Heliopolis, Annapolis) can also berooted in the same word palli. And that could imply even a westwardmigration of the Greeks from a Dravidian area to Greece! Finally, the evidencewhich Tony Joseph shows in the downward migration of the Dravidian languages ison flimsy evidence and shows a great level of bias and a lack of scientificnature, according to Shrikant Talageri.

WHY IS THE PERIOD 2000-1000 BCE SOSIGNIFICANT AND IMPORTANT?

Aryan or the Indo-European migration fromacross Asia came as a theory because of a discovery of common features in thelanguages between northern India and Europe sweeping across many regions and countries.This language family had to be a result of a common origin from wherethe original people migrated to different parts, where new languages developed,albeit with strong links to the parent language.

So, where is the origin? The Steppes ofSouth Russia, say the unanimous voice of the scholars. At least the voice ofthe AIT/AMT scholars. From the Steppes of Russia to North West India is thetraced migration of these Aryans where they encountered the local Harappans,drove them South, established the language of Sanskrit and then wrote theVedas.

The Indo-European languages are twelveliving and extinct branches of languages. From the west to the east they are: Celtic,Italian, Germanic, Baltic, Slavic, Albanian, Greek, Anatolian (extinct), Armenian,Iranian, Tocharian (extinct), and Indo-Aryan. The common ancestral languagegets the term PIE (Proto-Indo-European). The whole theory is purely based onlinguistic analysis and only on the logic of a common origin of languages in ageographically-restricted Homeland from where the migrations took place.Talageri now constructs the time periods for these events and the route takenby these invaders/migrants in the dominant discourse.

Unfortunately, there are lot of problemswith this story. Most importantly, there is absolutely no archaeologicalevidence, not a shred, to support this remarkable migration from the Steppes ofRussia to North West India and the full-blown development of Sanskrit/ Rigvedain a remarkably short span of less than two thousand years. Archaeology of theHarappan area shows an extremely stable civilization without any cataclysmicchanges propounded by the forced entry of the Aryans from 4500 BCE to 500 BCE.Again, archaeology is a nail in the coffin of AIT, because whatever evidence ithas, it is more in favour of an exact opposite trend of migration, from out ofIndia to the west!

Studying the Rigvedic data shows clearlythat the Indo-Aryan speaking Vedic people were present in a wide area fromSouth- East Afghanistan to westernmost UP. The Rigveda does not contain asingle reference of any tradition, name, or place in memory of its previousjourneys from the Russian steppes. Also, the river and place names have noconnection to the Dravidian languages who were allegedly living there before.Rivers in Europe carry the original names even after the influx of Europeanlanguages, but this does not funnily seem to happen in the North West India.All the names and places are Indo-European. The area is, in short, purelyIndo-Aryan in the Veda itself.

A very populous Dravidian civilization in ashort span from 2000 BCE to 1200 BCE could not have just left the area for theinvading or the trickling nomadic Aryans to become completely obliterated fromany reference whatsoever. There is no reference in the Vedas or archaeologywhich records such great cataclysmic events.

The other Samhitas follow the Rigveda:the Yajurveda, the Samaveda, and the Atharvaveda. Thenthere are the Brahmanas, the Aranyakas, the Upanishads, andthe Sutras. Each of these have their own chronological periods showinglinguistic changes indicating that they were of different periods of time; butall before the Buddha. This squeezes the entire period of the Vedic corpus intoa narrow window of 400-600 years. Remarkable!

For the AIT/AMT to hold, the period between2000 BCE to 1000 BCE is extremely important, as this is the period wheneverything related to Aryan migration into India, driving away theHarappans/Dravidians, development of the perfect language of Sanskrit andwriting the entire corpus of the Rigveda happened. The major problem comes thatall evidence from archaeology, textual/inscriptional analysis, and evenlinguistics show the presence of Indo-Aryans much before 2000 BCE. In fact,evidence from above can show a reverse migration as the OIT (Out of India)proponents aggressively suggest.

And now comes the superhero for the AIT- genetics.A paper written by ninety-two scientists called The Genomic formation ofSouth and Central Asia apparently proves for Tony Joseph that multiplewaves of Steppe pastoralist migrants between 2000 BCE and 1000 BCE from CentralAsia into South Asia brought Indo-European languages and new religious/cultural practices.

The migrations may be a fact based ongenomics; but the conclusion of bringing in languages and culture is purespeculation of the AIT/AMT proponents who still want to hold on to the period2000-1000 BCE says Talageri. All the recorded evidence in the three importantbranches of archaeology, textual corpus, and linguistics show evidence to thecontrary. Genetics should hold its findings in confirmation to establishedevidence, but not in confirmation of theoretical speculations. It is an attemptto fit forcibly the data into a pre-supposed theory. The science may not be badhere, but the interpretations are suspect.

CAN GENETIC EVIDENCE TELL US THATIE-LANGUAGE SPEAKERS MIGRATED TO INDIA FROM CENTRAL ASIA?

There are two components to the claim ofTony Joseph in the book. The first is that between 2000-1000 BCE, multiplewaves of Steppe pastoralist migrants from central Asia entered south Asia, andcould be a fact. The second component is that they brought Indo-Europeanlanguages and new religious practices into an existing civilization andcompletely changed the pattern of civilization without any force. It is almostlike one entering a random beautiful mansion peacefully and asking the ownersto leave. The latter do so willingly without any resistance leaving the mansionto the people who asked so politely. Obviously, the second part is purespeculation and doubtful if genetics can make any such claims, as Talagerisays.

Genetics is a super science no doubt and ithas made great contributions in tracing ancestries and migrations of humansacross the globe. Adam Rutherford in his book, A Brief History of EveryoneWho Ever Lived traces the ancestry of all humankind brilliantly. AdamRutherford says, a few thousand years back, a few thousand men were theancestors of all people who are living now. Hence, a Chinese, a Russian, anIndian, a European, an African, an Arab are all living in your and my DNA asinformation, some expressed and some not. We are all related and not only that;we are all related to the Neanderthals too, whom we successfully eliminated orintegrated with. About 2-3% of genes belong to the Neanderthals. Yes, weprocreated with them. Humans have been certainly very promiscuous. Some donot agree to the Neanderthal bit though.

Genes can track the movements of speciesacross various geographical locations; and it is nearly clear that we all cameout of Africa. The humankind presently populating the entire globe started as asmall group of people in Africa who started walking. The unifying message of Rutherfordsbook is we are all one; but each one is unique. What a wonderful way tocelebrate!

Another myth which the Rutherfordsuccessfully blows up are the claims of discovery of genes for complex humantraits like sexual orientation or alcoholism. That is almost always fictitiousscience something akin to phrenology which predicted human behaviour bylooking at bumps on the skull. Genetic code is very complex for most humantraits with hundreds and thousands of genes being involved in each human trait.And all the genes interact in a highly-complicated manner with the environmentthey are in. The behaviour of humans is simply too complex to have the paradigmof one gene leading to one disease or one trait. In such a situation, it mightbe difficult to conceive of language and cultural migrations based solely ongenetic studies. Language and culture are components of evolution mechanisms, independentof genetics with maybe some interlinking, in the words of authors Eva Jablonkaand Marion Lamb (Evolution in Four Dimensions), but a study of the genesthemselves to predict linguistic movements is tricky science.

Anyway, according to Tony Joseph, the onlycriterion for the identifying genetic evidence of the influx from Central Asiais the dating of the Rigveda also between 2000 to 1000 BCE. Vedic compositionis between 1400 BCE to 1000 BCE, claims Tony Joseph on the authority of MichaelWitzel. It is important for the Aryan theory bringing in Indo-Europeanlanguages to also have a linkage in the linguistic sense. This means tallyingwith the dating of the oldest of the Vedas too.

The philosophy of science has a deepprinciple of falsification. If there is falsification of a key component of anytheory, then the whole theory stands to scrutiny. If the Vedas are older than2000 BCE, then the whole edifice of the Aryan invasion or migration theorycollapses. This is what Talageri proves repeatedly that the Vedas are atleast beyond 3000 BCE. And the AIT/AMT school shuts itself from Talageriand indulges in neither proving or disproving his contrary claims. And that isbad science.

THE OLD RIGVEDA AND THE NEW RIGVEDA

The Rigveda is the oldest manuscript in theworld. It is also the longest inscription from the ancient world. The Rigvedaconsists of 10 mandalas or books; 1028 suktas or hymns; and 10552 mantras orverses. The Rigveda is amazing in the sense that its preservation has been in aperfectly pristine form for over thousands of years in an oral form. Thetextual form came much later. Every word, every syllable, and even the tonalaccent to pronounce the words has an exact preservation across time and space.They are a tape recording of the Vedic era transmitted orally; and hence, anautobiography of the time when composed. The names of places or persons referto contemporary sources of that time; and this is the unanimous opinion ofgreat scholars, both Indian and western.

The Rigveda is an inscription telling usabout the Vedic age. Unfortunately, there is no exact dating of the Vedic textsin a direct manner. However, Talageri says the dating becomes possible whencompared to other related data from the Avesta and the Mittanirecords.

Scholars after deep study have concludedthe division of the Rigveda into the New books and the Old books.The Old books are 2, 3, 4, 6, 7 and the New books are 1, 5, 8,9,10. There isalso another division as family books which are basically the Old booksalong with book 5; and the non-family books which are the New booksexcept book 5. There are several add on verses called the redacted hymns whichare present only in the Old books and they come as an addition either betweenthe verses or at the end of the book. The redacted hymns were additions at thetime of writing the New books.

So finally, the Old Rigveda are the books2, 3, 4, 6, 7 with 280 hymns and 2351 verses after subtracting the redactedhymns; and the New Rigveda are books 1, 5, 8, 9, 10 with 686 hymns and 7311verses. The 62 redacted hymns with 890 verses form a late appendix to the OldRigveda- a kind of grey area between the two epochs.

The authors scholarship comes into thefore in this chapter where Talageri discusses the differences between the Oldand the New books of the Rigveda. The differences are in the authors, thestructure of the verses, the meters used, the sacred numerical formulae,categories of words, usage of personal names, usage of suffixes or prefixes informing compound words, grammatical forms, certain mythical and sociologicalconcepts, categories of words, differing meaning of same words, totally newwords in the New books, and so on.

The conclusion from all the above is that the two parts of the text fall in two distinct chronological eras; the era of the Old Rigveda followed by the era of the New Rigveda.

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Book Summary: Genetics and the Aryan Debate by Shrikant Talageri- I - IndiaFacts

Human Genetics – medschool.ucla.edu

A hub of deep expertise, the Department of Human Genetics helps partners across UCLA interpret data and leverage genomic technology to improve study design and solve medical problems.

We demystify genetic complexities to provide vital insights for a range of clinical and research applications. We strive to improve the care of as many patients as possible by pushing our capabilities, developing novel ways to address unanswered questions.

Your next collaboration is right down the street.

Our enviable proximity to the worlds brightest scientific minds enables both thriving scheduled events and impromptu sidewalk powwows. A casual conversation during your coffee run could lead to your next big publication.

Come find out why innovation lives here.

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Jonathan Flint, MDPsychiatrist Dr. Jonathan Flint has been named a fellow of the Royal Society, an academy that includes some of the worlds most eminent scientists.Learn More

Bogdan Pasaniuc, PhDA team of researchers from UCLA, Cedars-Sinai Cancer and Dana-Farber Cancer Institute has identified 34 genes that are associated with an increased risk for developing the earliest stages of ovarian cancer.Learn More

Deborah Krakow, MDNamed to Los Angeles Magazines 2019 list of Top Doctors in Los Angeles specializing in Genetics. The list identifies doctors considered to be at the top of their fields.Learn More

Julian Martinez, MD, PhD Named to Los Angeles Magazines 2019 list of Top Doctors in Los Angeles specializing in Genetics. The list identifies doctors considered to be at the top of their fields.Learn More

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Human Genetics - medschool.ucla.edu

Department of Human Genetics | The University of Chicago

The Department of Human Genetics is the home within the Division of Biological Sciences for the study of basic principles of genetics and genomics as applied to human disease. We provide broad training in experimental genetics and genomics, statistical and population genetics, bioinformatics, and clinical genetics. A common theme throughout our research is the application of basic genetic principles and strategies to the study of disease mechanism, disease susceptibility, and the genetic architecture of complex traits. Our faculty bridge between basic and clinical research and train students for careers in academia, industry, and medicine.

The Department of Human Genetics has an unwavering commitment to diversity, inclusion, free expression, and open discourse.These values are at the core of our roles as scientists, as teachers, and as citizens of a free society.

Science, including genetics, plays a central role in many crucial issues of our time. We are committed to generating rigorous scientific knowledge, training future scientists, and preparing our students to be well-informed citizens in a democratic society.

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Human genetics | biology | Britannica.com

Human genetics, study of the inheritance of characteristics by children from parents. Inheritance in humans does not differ in any fundamental way from that in other organisms.

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genetics: Human genetics

Some geneticists specialize in the hereditary processes of human genetics. Most of the emphasis is on understanding and treating genetic

The study of human heredity occupies a central position in genetics. Much of this interest stems from a basic desire to know who humans are and why they are as they are. At a more practical level, an understanding of human heredity is of critical importance in the prediction, diagnosis, and treatment of diseases that have a genetic component. The quest to determine the genetic basis of human health has given rise to the field of medical genetics. In general, medicine has given focus and purpose to human genetics, so the terms medical genetics and human genetics are often considered synonymous.

A new era in cytogenetics, the field of investigation concerned with studies of the chromosomes, began in 1956 with the discovery by Jo Hin Tjio and Albert Levan that human somatic cells contain 23 pairs of chromosomes. Since that time the field has advanced with amazing rapidity and has demonstrated that human chromosome aberrations rank as major causes of fetal death and of tragic human diseases, many of which are accompanied by mental retardation. Since the chromosomes can be delineated only during mitosis, it is necessary to examine material in which there are many dividing cells. This can usually be accomplished by culturing cells from the blood or skin, since only the bone marrow cells (not readily sampled except during serious bone marrow disease such as leukemia) have sufficient mitoses in the absence of artificial culture. After growth, the cells are fixed on slides and then stained with a variety of DNA-specific stains that permit the delineation and identification of the chromosomes. The Denver system of chromosome classification, established in 1959, identified the chromosomes by their length and the position of the centromeres. Since then the method has been improved by the use of special staining techniques that impart unique light and dark bands to each chromosome. These bands permit the identification of chromosomal regions that are duplicated, missing, or transposed to other chromosomes.

Micrographs showing the karyotypes (i.e., the physical appearance of the chromosome) of a male and a female have been produced. In a typical micrograph the 46 human chromosomes (the diploid number) are arranged in homologous pairs, each consisting of one maternally derived and one paternally derived member. The chromosomes are all numbered except for the X and the Y chromosomes, which are the sex chromosomes. In humans, as in all mammals, the normal female has two X chromosomes and the normal male has one X chromosome and one Y chromosome. The female is thus the homogametic sex, as all her gametes normally have one X chromosome. The male is heterogametic, as he produces two types of gametesone type containing an X chromosome and the other containing a Y chromosome. There is good evidence that the Y chromosome in humans, unlike that in Drosophila, is necessary (but not sufficient) for maleness.

A human individual arises through the union of two cells, an egg from the mother and a sperm from the father. Human egg cells are barely visible to the naked eye. They are shed, usually one at a time, from the ovary into the oviducts (fallopian tubes), through which they pass into the uterus. Fertilization, the penetration of an egg by a sperm, occurs in the oviducts. This is the main event of sexual reproduction and determines the genetic constitution of the new individual.

Human sex determination is a genetic process that depends basically on the presence of the Y chromosome in the fertilized egg. This chromosome stimulates a change in the undifferentiated gonad into that of the male (a testicle). The gonadal action of the Y chromosome is mediated by a gene located near the centromere; this gene codes for the production of a cell surface molecule called the H-Y antigen. Further development of the anatomic structures, both internal and external, that are associated with maleness is controlled by hormones produced by the testicle. The sex of an individual can be thought of in three different contexts: chromosomal sex, gonadal sex, and anatomic sex. Discrepancies between these, especially the latter two, result in the development of individuals with ambiguous sex, often called hermaphrodites. The phenomenon of homosexuality is of uncertain cause and is unrelated to the above sex-determining factors. It is of interest that in the absence of a male gonad (testicle) the internal and external sex anatomy is always female, even in the absence of a female ovary. A female without ovaries will, of course, be infertile and will not experience any of the female developmental changes normally associated with puberty. Such a female will often have Turners syndrome.

If X-containing and Y-containing sperm are produced in equal numbers, then according to simple chance one would expect the sex ratio at conception (fertilization) to be half boys and half girls, or 1 : 1. Direct observation of sex ratios among newly fertilized human eggs is not yet feasible, and sex-ratio data are usually collected at the time of birth. In almost all human populations of newborns, there is a slight excess of males; about 106 boys are born for every100 girls. Throughout life, however, there is a slightly greater mortality of males; this slowly alters the sex ratio until, beyond the age of about 50 years, there is an excess of females. Studies indicate that male embryos suffer a relatively greater degree of prenatal mortality, so the sex ratio at conception might be expected to favour males even more than the 106 : 100 ratio observed at birth would suggest. Firm explanations for the apparent excess of male conceptions have not been established; it is possible that Y-containing sperm survive better within the female reproductive tract, or they may be a little more successful in reaching the egg in order to fertilize it. In any case, the sex differences are small, the statistical expectation for a boy (or girl) at any single birth still being close to one out of two.

During gestationthe period of nine months between fertilization and the birth of the infanta remarkable series of developmental changes occur. Through the process of mitosis, the total number of cells changes from 1 (the fertilized egg) to about 2 1011. In addition, these cells differentiate into hundreds of different types with specific functions (liver cells, nerve cells, muscle cells, etc.). A multitude of regulatory processes, both genetically and environmentally controlled, accomplish this differentiation. Elucidation of the exquisite timing of these processes remains one of the great challenges of human biology.

Immunity is the ability of an individual to recognize the self molecules that make up ones own body and to distinguish them from such nonself molecules as those found in infectious microorganisms and toxins. This process has a prominent genetic component. Knowledge of the genetic and molecular basis of the mammalian immune system has increased in parallel with the explosive advances made in somatic cell and molecular genetics.

There are two major components of the immune system, both originating from the same precursor stem cells. The bursa component provides B lymphocytes, a class of white blood cells that, when appropriately stimulated, differentiate into plasma cells. These latter cells produce circulating soluble proteins called antibodies or immunoglobulins. Antibodies are produced in response to substances called antigens, most of which are foreign proteins or polysaccharides. An antibody molecule can recognize a specific antigen, combine with it, and initiate its destruction. This so-called humoral immunity is accomplished through a complicated series of interactions with other molecules and cells; some of these interactions are mediated by another group of lymphocytes, the T lymphocytes, which are derived from the thymus gland. Once a B lymphocyte has been exposed to a specific antigen, it remembers the contact so that future exposure will cause an accelerated and magnified immune reaction. This is a manifestation of what has been called immunological memory.

The thymus component of the immune system centres on the thymus-derived T lymphocytes. In addition to regulating the B cells in producing humoral immunity, the T cells also directly attack cells that display foreign antigens. This process, called cellular immunity, is of great importance in protecting the body against a variety of viruses as well as cancer cells. Cellular immunity is also the chief cause of the rejection of organ transplants. The T lymphocytes provide a complex network consisting of a series of helper cells (which are antigen-specific), amplifier cells, suppressor cells, and cytotoxic (killer) cells, all of which are important in immune regulation.

One of the central problems in understanding the genetics of the immune system has been in explaining the genetic regulation of antibody production. Immunobiologists have demonstrated that the system can produce well over one million specific antibodies, each corresponding to a particular antigen. It would be difficult to envisage that each antibody is encoded by a separate gene; such an arrangement would require a disproportionate share of the entire human genome. Recombinant DNA analysis has illuminated the mechanisms by which a limited number of immunoglobulin genes can encode this vast number of antibodies.

Each antibody molecule consists of several different polypeptide chainsthe light chains (L) and the longer heavy chains (H). The latter determine to which of five different classes (IgM, IgG, IgA, IgD, or IgE) an immunoglobulin belongs. Both the L and H chains are unique among proteins in that they contain constant and variable parts. The constant parts have relatively identical amino acid sequences in any given antibody. The variable parts, on the other hand, have different amino acid sequences in each antibody molecule. It is the variable parts, then, that determine the specificity of the antibody.

Recombinant DNA studies of immunoglobulin genes in mice have revealed that the light-chain genes are encoded in four separate parts in germ-line DNA: a leader segment (L), a variable segment (V), a joining segment (J), and a constant segment (C). These segments are widely separated in the DNA of an embryonic cell, but in a mature B lymphocyte they are found in relative proximity (albeit separated by introns). The mouse has more than 200 light-chain variable region genes, only one of which will be incorporated into the proximal sequence that codes for the antibody production in a given B lymphocyte. Antibody diversity is greatly enhanced by this system, as the V and J segments rearrange and assort randomly in each B-lymphocyte precursor cell. The mechanisms by which this DNA rearrangement takes place are not clear, but transposons are undoubtedly involved. Similar combinatorial processes take place in the genes that code for the heavy chains; furthermore, both the light-chain and heavy-chain genes can undergo somatic mutations to create new antibody-coding sequences. The net effect of these combinatorial and mutational processes enables the coding of millions of specific antibody molecules from a limited number of genes. It should be stressed, however, that each B lymphocyte can produce only one antibody. It is the B lymphocyte population as a whole that produces the tremendous variety of antibodies in humans and other mammals.

Plasma cell tumours (myelomas) have made it possible to study individual antibodies, since these tumours, which are descendants of a single plasma cell, produce one antibody in abundance. Another method of obtaining large amounts of a specific antibody is by fusing a B lymphocyte with a rapidly growing cancer cell. The resultant hybrid cell, known as a hybridoma, multiplies rapidly in culture. Since the antibodies obtained from hybridomas are produced by clones derived from a single lymphocyte, they are called monoclonal antibodies.

As has been stated, cellular immunity is mediated by T lymphocytes that can recognize infected body cells, cancer cells, and the cells of a foreign transplant. The control of cellular immune reactions is provided by a linked group of genes, known as the major histocompatibility complex (MHC). These genes code for the major histocompatibility antigens, which are found on the surface of almost all nucleated somatic cells. The major histocompatibility antigens were first discovered on the leukocytes (white blood cells) and are therefore usually referred to as the HLA (human leukocyte group A) antigens.

The advent of the transplantation of human organs in the 1950s made the question of tissue compatibility between donor and recipient of vital importance, and it was in this context that the HLA antigens and the MHC were elucidated. Investigators found that the MHC resides on the short arm of chromosome 6, on four closely associated sites designated HLA-A, HLA-B, HLA-C, and HLA-D. Each locus is highly polymorphic; i.e., each is represented by a great many alleles within the human gene pool. These alleles, like those of the ABO blood group system, are expressed in codominant fashion. Because of the large number of alleles at each HLA locus, there is an extremely low probability of any two individuals (other than siblings) having identical HLA genotypes. (Since a person inherits one chromosome 6 from each parent, siblings have a 25 percent probability of having received the same paternal and maternal chromosomes 6 and thus of being HLA matched.)

Although HLA antigens are largely responsible for the rejection of organ transplants, it is obvious that the MHC did not evolve to prevent the transfer of organs from one person to another. Indeed, information obtained from the histocompatibility complex in the mouse (which is very similar in its genetic organization to that of the human) suggests that a primary function of the HLA antigens is to regulate the number of specific cytotoxic T killer cells, which have the ability to destroy virus-infected cells and cancer cells.

More is known about the genetics of the blood than about any other human tissue. One reason for this is that blood samples can be easily secured and subjected to biochemical analysis without harm or major discomfort to the person being tested. Perhaps a more cogent reason is that many chemical properties of human blood display relatively simple patterns of inheritance.

Certain chemical substances within the red blood cells (such as the ABO and MN substances noted above) may serve as antigens. When cells that contain specific antigens are introduced into the body of an experimental animal such as a rabbit, the animal responds by producing antibodies in its own blood.

In addition to the ABO and MN systems, geneticists have identified about 14 blood-type gene systems associated with other chromosomal locations. The best known of these is the Rh system. The Rh antigens are of particular importance in human medicine. Curiously, however, their existence was discovered in monkeys. When blood from the rhesus monkey (hence the designation Rh) is injected into rabbits, the rabbits produce so-called Rh antibodies that will agglutinate not only the red blood cells of the monkey but the cells of a large proportion of human beings as well. Some people (Rh-negative individuals), however, lack the Rh antigen; the proportion of such persons varies from one human population to another. Akin to data concerning the ABO system, the evidence for Rh genes indicates that only a single chromosome locus (called r) is involved and is located on chromosome 1. At least 35 Rh alleles are known for the r location; basically the Rh-negative condition is recessive.

A medical problem may arise when a woman who is Rh-negative carries a fetus that is Rh-positive. The first such child may have no difficulty, but later similar pregnancies may produce severely anemic newborn infants. Exposure to the red blood cells of the first Rh-positive fetus appears to immunize the Rh-negative mother, that is, she develops antibodies that may produce permanent (sometimes fatal) brain damage in any subsequent Rh-positive fetus. Damage arises from the scarcity of oxygen reaching the fetal brain because of the severe destruction of red blood cells. Measures are available for avoiding the severe effects of Rh incompatibility by transfusions to the fetus within the uterus; however, genetic counselling before conception is helpful so that the mother can receive Rh immunoglobulin immediately after her first and any subsequent pregnancies involving an Rh-positive fetus. This immunoglobulin effectively destroys the fetal red blood cells before the mothers immune system is stimulated. The mother thus avoids becoming actively immunized against the Rh antigen and will not produce antibodies that could attack the red blood cells of a future Rh-positive fetus.

Human serum, the fluid portion of the blood that remains after clotting, contains various proteins that have been shown to be under genetic control. Study of genetic influences has flourished since the development of precise methods for separating and identifying serum proteins. These move at different rates under the impetus of an electrical field (electrophoresis), as do proteins from many other sources (e.g., muscle or nerve). Since the composition of a protein is specified by the structure of its corresponding gene, biochemical studies based on electrophoresis permit direct study of tissue substances that are only a metabolic step or two away from the genes themselves.

Electrophoretic studies have revealed that at least one-third of the human serum proteins occur in variant forms. Many of the serum proteins are polymorphic, occurring as two or more variants with a frequency of not less than 1 percent each in a population. Patterns of polymorphic serum protein variants have been used to determine whether twins are identical (as in assessing compatibility for organ transplants) or whether two individuals are related (as in resolving paternity suits). Whether the different forms have a selective advantage is not generally known.

Much attention in the genetics of substances in the blood has been centred on serum proteins called haptoglobins, transferrins (which transport iron), and gamma globulins (a number of which are known to immunize against infectious diseases). Haptoglobins appear to relate to two common alleles at a single chromosome locus; the mode of inheritance of the other two seems more complicated, about 18 kinds of transferrins having been described. Like blood-cell antigen genes, serum-protein genes are distributed worldwide in the human population in a way that permits their use in tracing the origin and migration of different groups of people.

Hundreds of variants of hemoglobin have been identified by electrophoresis, but relatively few are frequent enough to be called polymorphisms. Of the polymorphisms, the alleles for sickle-cell and thalassemia hemoglobins produce serious disease in homozygotes, whereas others (hemoglobins C, D, and E) do not. The sickle-cell polymorphism confers a selective advantage on the heterozygote living in a malarial environment; the thalassemia polymorphism provides a similar advantage.

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Human genetics | biology | Britannica.com

What is Bitcoin Cash? – finance.yahoo.com

For many newcomers, cryptocurrencies can be confusing at the best of times. Not only are they extremely complex, but there are also so many of them to choose from.

Bitcoin itself is no stranger to this. There are multiple iterations of Bitcoin, from the original BTC to Bitcoin Gold and Bitcoin Private. The biggest competitor to Bitcoin though is Bitcoin Cash (BCH). BCH is a hard fork of Bitcoin that aims to solve the issue of scaling through the use of bigger blocks.

Bitcoin Cash arose due to a large scaling debate that happened within the Bitcoin community. Debates began to arise when the Bitcoin mempool began to fill up due to the amount of transactions taking place on the network. This caused Bitcoin to become slower and more expensive to send than it had been in the past.

There were two options depending on your viewpoint. The first was to scale by increasing the block size of Bitcoin, and the second was to scale via a second-layer solution such as the Lightning Network. When neither side could come to a compromise, a fork took place and led to the creation of what became known as Bitcoin Cash.

Bitcoin Cash was backed by evangelist Roger Ver and mining giant Jihan Wu along with many other industry leaders and experts. They disagreed with the idea of implementing SegWit onto Bitcoin and wanted to see Bitcoin scale to 8MB blocks.

Bigger blocks allow for more transactions to take place. However, this comes with the downside of creating a larger blockchain. Those who believe in BTC argue that bigger blocks will eventually lead to mining centralisation.

BCH supporters argue that through Moores Law technology will eventually catch up, allowing for bigger blocks to be possible without these centralisation issues.

Bigger blocks are believed to be necessary due to the fees associated with Bitcoin. When the network became extremely popular in the bull run of 2017, fees and transaction times began to rise considerably. This made it clear that Bitcoin needed to scale.

Bitcoin Cash believes that it has solved these problems through bigger blocks, which it argues allows for much lower fees.

It is impossible to discuss Bitcoin Cash without mentioning evangelist Roger Ver. Ver was one of the first people to promote Bitcoin to the world. He was an early investor in the cryptocurrency and many major cryptocurrency companies today were helped by his funding. As the owner of the bitcoin.com domain, he holds a powerful position.

Ver argues that the direction that BTC has taken has limited the cryptocurrency and allowed other altcoins to rise in prominence. He argues that Bitcoin Cash is the true Bitcoin as it is a form of peer-to-peer electronic cash, as stated in the white paper.

This has not been without controversy, and resulted in much antagonism directed towards Ver. Some have argued that Ver has misled the public in his promotion of Bitcoin Cash as the real Bitcoin an accusation he vehemently denies.

BCH went through its own drama in late 2018. After the split from BTC, BCH was led by Roger Ver, Jihan Wu, and development teams including Bitcoin Unlimited and Bitcoin ABC. They were also supported by Craig Wright of nChain and his partner Calvin Ayre.

However, their relationship soured, and another fork took place splitting Bitcoin Cash into BCH and Bitcoin Satoshis Vision (BSV).

Many members of the Bitcoin Cash community are on the r/btc subreddit. The r/btc subreddit is another split from the original r/bitcoin subreddit. The drama began when users argued that the r/bitcoin subreddit was too heavily moderated, therefore limiting free speech.

This led to the creation of r/btc, and this is where you can find the most up-to-date news on Bitcoin Cash and debates surrounding the cryptocurrency. If you want the latest news and to join the community, this is the place to start.

There are many fervent supporters of Bitcoin Cash who believe that on-chain scaling is the main solution to the current scaling issues. Although it has yet to make a dent in overtaking the original Bitcoin chain, their beliefs have not diminished. This is the main difference between Bitcoin Cash and Bitcoin the debate over scaling on-chain or via a second layer.

Arguments over the split still rage on to this day, with both sides not conceding any ground. Whilst many deride Bitcoin Cash, there is an argument to be made that the testing of an on-chain scaling solution is a good experiment for the whole of cryptocurrency.

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Bitcoin Soars As Ethereum, Ripple’s XRP, Bitcoin Cash, And …

Bitcoin has continued its march higher after shooting up at the beginning of the month and now appears to be pulling away from the likes ethereum, Ripple's XRP, bitcoin cash, EOS, and other major cryptocurrencies.

The bitcoin price has hit another year-to-date high in the past 24 hours, climbing to $5,622, according to prices from the Luxembourg-based Bitstamp exchange.

Now, a bullish technical indicator is giving investors heart that the recent rally will be held after bitcoin's moving averages showed a pattern known as a golden cross.

The bitcoin price has been outperforming smaller cryptocurrencies after so-called altcoins made strong gains previously.

The golden crossoccurs when the average bitcoin price in the short term rises above its long term average price. Bitcoin's 50-day moving average rose above its 200-day moving average for the first time since 2015yesterday.

Alternatively, when an assets short-term moving average crosses below the long-term moving average, it indicates the potential for a major selloff and is known as a death cross.

The bitcoin price has risen almost 2% over the last 24 hour trading period, according to data from CoinMarketCap, which tracks most major cryptocurrencies.

Elsewhere, ethereum and Ripple's XRP lost 2%, while bitcoin cash, an offshoot of bitcoin itself, was down more than 5%. EOS was off by 3% over the last 24 hour trading period.

Binance coin, which increasingly seems to be deciding the direction of the bitcoin and cryptocurrency market, lost the most of the top ten cryptocurrencies over the last 24 hours, dropping almost 6%.

The bitcoin price has recorded another year-to-date high this week.

Bitcoin and cryptocurrency industry insiders have said bitcoin, the original cryptocurrency, is still very important to the wider market.

"If I had to pick one [cryptocurrency], I would pick bitcoin. We need bitcoin to succeed in order for the market to do well and for innovations to keep happening," Hany Rashwan, the founder and chief executive of cryptocurrency trading tools company Amun, this week told the Crypto for Earthlings podcast.

"Bitcoin is the largest and most well support asset today and we shouldn't dismiss it. There are a number of technical innovations on their way to make bitcoin more transactional. We should focus on that and keep investing in bitcoin more than anything else."

Meanwhile, analysts and traders were keen to find any sign of what was pushing bitcoin higher while other coins, like ethereum, Ripple's XRP, bitcoin cash, and EOS, fell.

The cryptocurrency market has been divided by bitcoin's recent gains.

"Another strong surge during the Asian session[yesterday]brought us to a new high of $5,622 a coin, the highest level since November's capitulation," eToro senior market analyst Mati Greenspan wrote in a note to clients.

"There are a load of bullish signs right now but if you're asking what caused this morning's movement, you might be slightly disappointed as there doesn't seem to be any specific catalyst for this. It seems simply to be a shift in outlook.

"During the bear market, there were a lot of people who sold their crypto in fear of lower prices. Those people didn't really go away though, they're simply standing on the sidelines waiting for the return of a bull market."

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Bitcoin Cash – finance.yahoo.com

Bitcoin Cash ABC Slides Again

Bitcoin Cash ABC slid by 3.14% on Friday. Following on from a 6.72% tumble on Thursday, Bitcoin Cash ABC ended the day at $255.02.

A relatively bullish start to the day saw Bitcoin Cash ABC rise to an intraday high $269.27 before hitting reverse.

Falling short of the first major resistance level at $279.15, Bitcoin Cash ABC fell to a late afternoon intraday low $251.34.

In spite of the reversal, Bitcoin Cash ABC steered clear of the first major support level at $249.92 to recover to $255 levels.

At the time of writing, Bitcoin Cash ABC was up by 2.28% to $260.85. Bucking the trend from the broader market, Bitcoin Cash ABC rose from $255.02 to a morning high $261.

In spite of the early move, Bitcoin Cash ABC left the major support and resistance levels untested.

For the day ahead, a move through to $262 levels would support a run at the first major resistance level at $265.75.

Barring a broad-based crypto rally, Bitcoin Cash ABC would likely come up short of $270 levels and the second major resistance level at $276.47. Fridays high $269.27 would likely pin Bitcoin Cash ABC back on the day.

In the event of a breakout, Bitcoin Cash ABC would likely fall short of $280 levels on the day.

Failure to move through to $262 levels could see Bitcoin Cash ABC hit reverse later in the day. A fall a pullback through $258.54 would bring $251 levels into play before any recovery.

Barring a crypto sell-off, Bitcoin Cash ABC would likely steer clear of sub-$250 levels and the first major support level at $247.82.

Litecoin rose by 1.49% on Friday. Partially reversing a 3.39% slide from Thursday, Litecoin ended the day at $71.64.

A choppy start to the day saw Litecoin slide to an intraday low $68.88 before striking an intraday high $73.5.

The moves through the early hours saw Litecoin leave the major support and resistance levels untested.

Easing back from the early intraday high, Litecoin fell to an afternoon low $69.5 before finding support late in the day.

At the time of writing, Litecoin was down by 0.61% to $71.20. A bearish start to the day saw Litecoin fall from a morning high $71.83 to a low $71.13 before steadying.

Litecoin left the major support and resistance levels untested in the early hours.

For the day ahead, a move through to $71.40 levels would bring $72 levels back into play before any pullback. Support from the broader market would be needed, however, for Litecoin to take a run at $73 levels and the first major resistance level at $73.80.

Failure to move through to $71.40 levels could see Litecoin slide further into the red before any recovery.

A fall through to $70 levels would bring the first major support level at $69.18 into play. Barring a crypto meltdown, Litecoin would likely avoid a return to sub-$69 levels on the day.

Story continues

Ripples XRP rallied by 6.34% on Friday. Reversing a 3.93% slide from Thursday, Ripples XRP ended the day at $0.3092.

Bullish through the day, Ripples XRP rallied from a start of a day intraday low $0.28799 to a late intraday high $0.31149.

Steering clear of the major support levels, Ripples XRP broke through the first major resistance level at $0.3060. In spite of the day-long rally, Ripples XRP came up short of $0.32 levels and the second major resistance level at $0.3209. More modest gains elsewhere likely capped the upside on the day.

At the time of writing, Ripples XRP was down by 0.38% to $0.30802. A relatively range-bound start to the day saw Ripples XRP fall from a morning high $0.31097 to a low $0.30757.

The early moves saw Ripples XRP leave the major support and resistance levels untested.

For the day ahead, a move through to $0.31 levels would support a run at the first major resistance level at $0.3178. Following Fridays breakout, support from the broader market would be needed for return to $0.32 levels.

Barring a broad-based crypto rally, Ripples XRP would likely come up short of the second major resistance level at $0.3264.

Failure to move through to $0.31 levels could see Ripples XRP take another hit on the day. A fall through $0.3030 levels would bring the first major support level at $0.2943 into play.

Barring a crypto meltdown, Ripples XRP would likely avoid a return to $0.28 levels on the day.

Please let us know what you think in the comments below

Thanks, Bob

This article was originally posted on FX Empire

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Bitcoin Cash - finance.yahoo.com

What is Bitcoin Cash? – Coin Rivet

For many newcomers, cryptocurrencies can be confusing at the best of times. Not only are they extremely complex, but there are also so many of them to choose from.

Bitcoin itself is no stranger to this. There are multiple iterations of Bitcoin, from the original BTC to Bitcoin Gold and Bitcoin Private. The biggest competitor to Bitcoin though is Bitcoin Cash (BCH). BCH is a hard fork of Bitcoin that aims to solve the issue of scaling through the use of bigger blocks.

Bitcoin Cash arose due to a large scaling debate that happened within the Bitcoin community. Debates began to arise when the Bitcoin mempool began to fill up due to the amount of transactions taking place on the network. This caused Bitcoin to become slower and more expensive to send than it had been in the past.

There were two options depending on your viewpoint. The first was to scale by increasing the block size of Bitcoin, and the second was to scale via a second-layer solution such as the Lightning Network. When neither side could come to a compromise, a fork took place and led to the creation of what became known as Bitcoin Cash.

Bitcoin Cash was backed by evangelist Roger Ver and mining giant Jihan Wu along with many other industry leaders and experts. They disagreed with the idea of implementing SegWit onto Bitcoin and wanted to see Bitcoin scale to 8MB blocks.

Bigger blocks allow for more transactions to take place. However, this comes with the downside of creating a larger blockchain. Those who believe in BTC argue that bigger blocks will eventually lead to mining centralisation.

BCH supporters argue that through Moores Law technology will eventually catch up, allowing for bigger blocks to be possible without these centralisation issues.

Bigger blocks are believed to be necessary due to the fees associated with Bitcoin. When the network became extremely popular in the bull run of 2017, fees and transaction times began to rise considerably. This made it clear that Bitcoin needed to scale.

Bitcoin Cash believes that it has solved these problems through bigger blocks, which it argues allows for much lower fees.

It is impossible to discuss Bitcoin Cash without mentioning evangelist Roger Ver. Ver was one of the first people to promote Bitcoin to the world. He was an early investor in the cryptocurrency and many major cryptocurrency companies today were helped by his funding. As the owner of the bitcoin.com domain, he holds a powerful position.

Ver argues that the direction that BTC has taken has limited the cryptocurrency and allowed other altcoins to rise in prominence. He argues that Bitcoin Cash is the true Bitcoin as it is a form of peer-to-peer electronic cash, as stated in the white paper.

This has not been without controversy, and resulted in much antagonism directed towards Ver. Some have argued that Ver has misled the public in his promotion of Bitcoin Cash as the real Bitcoin an accusation he vehemently denies.

BCH went through its own drama in late 2018. After the split from BTC, BCH was led by Roger Ver, Jihan Wu, and development teams including Bitcoin Unlimited and Bitcoin ABC. They were also supported by Craig Wright of nChain and his partner Calvin Ayre.

However, their relationship soured, and another fork took place splitting Bitcoin Cash into BCH and Bitcoin Satoshis Vision (BSV).

Many members of the Bitcoin Cash community are on the r/btc subreddit. The r/btc subreddit is another split from the original r/bitcoin subreddit. The drama began when users argued that the r/bitcoin subreddit was too heavily moderated, therefore limiting free speech.

This led to the creation of r/btc, and this is where you can find the most up-to-date news on Bitcoin Cash and debates surrounding the cryptocurrency. If you want the latest news and to join the community, this is the place to start.

There are many fervent supporters of Bitcoin Cash who believe that on-chain scaling is the main solution to the current scaling issues. Although it has yet to make a dent in overtaking the original Bitcoin chain, their beliefs have not diminished. This is the main difference between Bitcoin Cash and Bitcoin the debate over scaling on-chain or via a second layer.

Arguments over the split still rage on to this day, with both sides not conceding any ground. Whilst many deride Bitcoin Cash, there is an argument to be made that the testing of an on-chain scaling solution is a good experiment for the whole of cryptocurrency.

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What is Bitcoin Cash? - Coin Rivet