Archive for the ‘Male Genetics’ Category

We all have 46 chromosomes: 23 of them are inherited from our father and 23 are from our mother. The genetic information for our entire body is stored within these chromosomes. Two of the 46 are sex chromosomes and determine whether we are male (XY) or female (XX). Therefore, the Y chromosome contains all the necessary information for differentiating males from females as well as for sperm production.

The study of Y chromosome microdeletions consists of checking if chromosome Y is complete and, as such, has all the necessary information for satisfactory sperm production or if, on the contrary, small fragments are missing. The loss of such fragments leads to altered spermiogramme which can mean poor sperm production (oligozoospermia) or even no production at all (azoospermia).

For all those patients with an altered seminogram sperm count, this test is of utmost importance since it will provide information on if the low sperm count is down to genetics and, therefore, may be passed on to male children.

The techniques used in laboratories the world over involve molecular biology techniques which only check a small number of Y chromosome regions.

As a part of our commitment to provide our patients with the very latest in innovative technology and deliver top results, we have recently introduced a new technique (MLPA, multiplex ligation-dependent probe amplification) which enables a greater number of Y chromosome regions to be studied. This means that we are able to diagnose more cases since we can detect the presence or absence of a greater number of Y chromosome regions. As such, more patients will get information on the cause of their sperm production issue. It will also enable the specific region of the Y chromosome which has been lost to be identified and, therefore, depending on which region it is, disclose whether a total loss of sperm production may occur in the future. If the patient is currently producing sperm, this will open up the possibility of freezing before production comes to a complete standstill, thus allowing for biological descendants in the future.

We must not forget that Y chromosome microdeletions mean a loss of genetic material. And that in such cases the fertility issue will be passed on to future male generations. Appropriate reproduction and genetics counselling is, therefore, a must. Instituto Bernabeu has a unit which is specialised in genetics and reproduction counselling where each case is evaluated on an individual basis and the patient is given appropriate advice.

Dr. Beln Lled, IBBIOTECH scientific Director of Instituto Bernabeu.

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Y chromosome microdeletion: Male sterility and genetic ...

Type of genetic haplogroup

In human genetics, a human Y-chromosome DNA haplogroup is a haplogroup defined by mutations in the non-recombining portions of DNA from the male-specific Y chromosome (called Y-DNA). Many people within a haplogroup share similar numbers of short tandem repeats (STRs) and types of mutations called single-nucleotide polymorphisms (SNPs).[1]

The human Y-chromosome accumulates roughly two mutations per generation.[2] Y-DNA haplogroups represent major branches of the Y-chromosome phylogenetic tree that share hundreds or even thousands of mutations unique to each haplogroup.

The Y-chromosomal most recent common ancestor (Y-MRCA, informally known as Y-chromosomal Adam) is the most recent common ancestor (MRCA) from whom all currently living humans are descended patrilineally. Y-chromosomal Adam is estimated to have lived roughly 236,000 years ago in Africa. By examining other bottlenecks most Eurasian men (men from populations outside of Africa) are descended from a man who lived 69,000 years ago. Other major bottlenecks occurred about 50,000 and 5,000 years ago and subsequently the ancestry of most Eurasian/non-African men can be traced back to four ancestors who lived 50,000 years ago.[3][4][5][clarification needed]

Y-DNA haplogroups are defined by the presence of a series of Y-DNA SNP markers. Subclades are defined by a terminal SNP, the SNP furthest down in the Y-chromosome phylogenetic tree.[6][7] The Y Chromosome Consortium (YCC) developed a system of naming major Y-DNA haplogroups with the capital letters A through T, with further subclades named using numbers and lower case letters (YCC longhand nomenclature). YCC shorthand nomenclature names Y-DNA haplogroups and their subclades with the first letter of the major Y-DNA haplogroup followed by a dash and the name of the defining terminal SNP.[8]

Y-DNA haplogroup nomenclature is changing over time to accommodate the increasing number of SNPs being discovered and tested, and the resulting expansion of the Y-chromosome phylogenetic tree. This change in nomenclature has resulted in inconsistent nomenclature being used in different sources.[1] This inconsistency, and increasingly cumbersome longhand nomenclature, has prompted a move towards using the simpler shorthand nomenclature. In September 2012, Family Tree DNA provided the following explanation of its changing Y-DNA haplogroup nomenclature to individual customers on their Y-DNA results pages (note that the haplogroup mentioned below relates to a specific individual):[9]

Long time customers of Family Tree DNA have seen the YCC-tree of Homo Sapiens evolve over the past several years as new SNPs have been discovered. Sometimes these new SNPs cause a substantial change in the "longhand" explanation of your terminal Haplogroup. Because of this confusion, we introduced a shorthand version a few years ago that lists the branch of the tree and your terminal SNP, i.e. J-L147, in lieu of J1c3d. Therefore, in the very near term, Family Tree DNA will discontinue showing the current "longhand" on the tree and we will focus all of our discussions around your terminal defining SNP.This changes no science it just provides an easier and less confusing way for us all to communicate.

Haplogroup A is the NRY (non-recombining Y) macrohaplogroup from which all modern paternal haplogroups descend. It is sparsely distributed in Africa, being concentrated among Khoisan populations in the southwest and Nilotic populations toward the northeast in the Nile Valley. BT is a subclade of haplogroup A, more precisely of the A1b clade (A2-T in Cruciani et al. 2011), as follows:

The defining mutations separating CT (all haplogroups except for A and B) are M168 and M294. The site of origin is likely in Africa. Its age has been estimated at approximately 88,000 years old,[11][12] and more recently at around 100,000[13] or 101,000 years old.[14]

The groups descending from haplogroup F are found in some 90% of the world's population, but almost exclusively outside of sub-Saharan Africa.

FxG,H,I,J,K is rare in modern populations and peaks in South Asia, especially Sri Lanka.[10] It also appears to have long been present in South East Asia; it has been reported at rates of 45% in Sulawesi and Lembata. One study, which did not comprehensively screen for other subclades of F-M89 (including some subclades of GHIJK), found that Indonesian men with the SNP P14/PF2704 (which is equivalent to M89), comprise 1.8% of men in West Timor, 1.5% of Flores 5.4% of Lembata 2.3% of Sulawesi and 0.2% in Sumatra.[15][16] F* (FxF1,F2,F3) has been reported among 10% of males in Sri Lanka and South India, 5% in Pakistan, as well as lower levels among the Tamang people (Nepal), and in Iran. F1 (P91), F2 (M427) and F3 (M481; previously F5) are all highly rare and virtually exclusive to regions/ethnic minorities in Sri Lanka, India, Nepal, South China, Thailand, Burma, and Vietnam. In such cases, however, the possibility of misidentification is considered to be relatively high and some may belong to misidentified subclades of Haplogroup GHIJK.[17]

Haplogroup G (M201) originated some 48,000 years ago and its most recent common ancestor likely lived 26,000 years ago in the Middle East. It spread to Europe with the Neolithic Revolution.

It is found in many ethnic groups in Eurasia; most common in the Caucasus, Iran, Anatolia and the Levant. Found in almost all European countries, but most common in Gagauzia, southeastern Romania, Greece, Italy, Spain, Portugal, Tyrol, and Bohemia with highest concentrations on some Mediterranean islands; uncommon in Northern Europe.[18][19]

G-M201 is also found in small numbers in northwestern China and India, Bangladesh, Pakistan, Sri Lanka, Malaysia, and North Africa.

Haplogroup H (M69) probably emerged in South Central Asia or South Asia, about 48,000 years BP, and remains largely prevalent there in the forms of H1 (M69) and H3 (Z5857). Its sub-clades are also found in lower frequencies in Iran, Central Asia, across the middle-east, and the Arabian peninsula.

However, H2 (P96) is present in Europe since the Neolithic and H1a1 (M82) spread westward in the Medieval era with the migration of the Roma people.

Haplogroup I (M170, M258) is found mainly in Europe and the Caucasus.

Haplogroup J (M304, S6, S34, S35) is found mainly in the Middle East and South-East Europe.

Haplogroup K (M9) is spread all over Eurasia, Oceania and among Native Americans.

K(xLT,K2a,K2b) that is, K*, K2c, K2d or K2e is found mainly in Melanesia, Aboriginal Australians, India, Polynesia and Island South East Asia.

Haplogroup L (M20) is found in South Asia, Central Asia, South-West Asia, and the Mediterranean.

Haplogroup T (M184, M70, M193, M272) is found at high levels in the Horn of Africa (mainly Cushitic-speaking peoples), parts of South Asia, the Middle East, and the Mediterranean. T-M184 is also found in significant minorities of Sciaccensi, Stilfser, Egyptians, Omanis, Sephardi Jews,[20] Ibizans (Eivissencs), and Toubou. It is also found at low frequencies in other parts of the Mediterranean and South Asia.

The only living males reported to carry the basal paragroup K2* are indigenous Australians. Major studies published in 2014 and 2015 suggest that up to 27% of Aboriginal Australian males carry K2*, while others carry a subclade of K2.

Haplogroup N (M231) is found through northern Eurasia, especially among speakers of the Uralic languages.

Haplogroup N possibly originated in eastern Asia and spread both northward and westward into Siberia, being the most common group found in some Uralic-speaking peoples.

Haplogroup O (M175) is found with its highest frequency in East Asia and Southeast Asia, with lower frequencies in the South Pacific, Central Asia, South Asia, and islands in the Indian Ocean (e.g. Madagascar, the Comoros).

No examples of the basal paragroup K2b1* have been identified. Males carrying subclades of K2b1 are found primarily among Papuan peoples, Micronesian peoples, indigenous Australians, and Polynesians.

Its primary subclades are two major haplogroups:

Haplogroup P (P295) has two primary branches: P1 (P-M45) and the extremely rare P2 (P-B253).[21]

P*, P1* and P2 are found together only on the island of Luzon, in The Philippines.[21] In particular, P* and P1* are found at significant rates among members of the Aeta (or Agta) people of Luzon.[22] While, P1* is now more common among living individuals in Eastern Siberia and Central Asia, it is also found at low levels in mainland South East Asia and South Asia. Considered together, these distributions tend to suggest that P* emerged from K2b in South East Asia.[22][23]

P1 is also the parent node of two primary clades:

Haplogroup Q (MEH2, M242, P36) found in Siberia and the AmericasHaplogroup R (M207, M306): found in Europe, West Asia, Central Asia, and South Asia

Q is defined by the SNP M242. It is believed to have arisen in Central Asia approximately 32,000 years ago.[24][25] The subclades of Haplogroup Q with their defining mutation(s), according to the 2008 ISOGG tree[26] are provided below. ss4 bp, rs41352448, is not represented in the ISOGG 2008 tree because it is a value for an STR. This low frequency value has been found as a novel Q lineage (Q5) in Indian populations[27]

The 2008 ISOGG tree

Haplogroup R is defined by the SNP M207. The bulk of Haplogroup R is represented in descendant subclade R1 (M173), which likely originated on the Eurasian Steppes. R1 has two descendant subclades: R1a and R1b.

R1a is associated with the proto-Indo-Iranian and Balto-Slavic peoples, and is now found primarily in Central Asia, South Asia, and Eastern Europe.

Haplogroup R1b is the dominant haplogroup of Western Europe and also found sparsely distributed among various peoples of Asia and Africa. Its subclade R1b1a2 (M269) is the haplogroup that is most commonly found among modern Western European populations, and has been associated with the Italo-Celtic and Germanic peoples.

More:
Human Y-chromosome DNA haplogroup - Wikipedia

Uncommon congenital variations of sex-associated characteristics

Intersex people are individuals born with any of several variations in sex characteristics including chromosomes, gonads, sex hormones or genitals that, according to the UN Office of the High Commissioner for Human Rights, "do not fit the typical definitions for male or female bodies".[1][2] This range of atypical variation may be physically obvious from birth babies may have ambiguous reproductive organs, or at the other extreme range it is not obvious and may remain unknown to people all their lives.[3]

Intersex people were previously referred to as hermaphrodites or "congenital eunuchs".[4][5] In the 19th and 20th centuries, some medical experts devised new nomenclature in an attempt to classify the characteristics that they had observed. It was the first attempt at creating a taxonomic classification system of intersex conditions. Intersex people were categorized as either having true hermaphroditism, female pseudohermaphroditism, or male pseudohermaphroditism.[6] These terms are no longer used: terms including the word "hermaphrodite" are considered to be misleading, stigmatizing, and scientifically specious in reference to humans.[7] A hermaphrodite is now defined as "an animal or plant having both male and female reproductive organs".[6] In 1917, Richard Goldschmidt created the term intersexuality to refer to a variety of physical sex ambiguities.[6] In clinical settings, the term "disorders of sex development" (DSD) has been used since 2006.[8] This shift has been controversial since the label was introduced.[9][10][11]

Intersex people face stigmatization and discrimination from birth, or from discovery of an intersex trait, such as from puberty. This may include infanticide, abandonment, and the stigmatization of families.[12][13][14] Globally, some intersex infants and children, such as those with ambiguous outer genitalia, are surgically or hormonally altered to create more socially acceptable sex characteristics. However, this is considered controversial, with no firm evidence of favorable outcomes.[15] Such treatments may involve sterilization. Adults, including elite female athletes, have also been subjects of such treatment.[16][17] Increasingly, these issues are considered human rights abuses, with statements from international[18][19] and national human rights and ethics institutions (see intersex human rights).[20][21] Intersex organizations have also issued statements about human rights violations, including the 2013 Malta declaration of the third International Intersex Forum.[22]

Sex assignment at birth usually aligns with a child's anatomical sex and phenotype. The number of births where the baby is intersex has been reported to be roughly 1.7%, depending on which conditions are counted as intersex.[23][24] The number of births with ambiguous genitals is in the range of 0.02% to 0.05%.[25] Other intersex conditions involve atypical chromosomes, gonads, or hormones.[26] Some intersex persons may be assigned and raised as a girl or boy but then identify with another gender later in life, while most continue to identify with their assigned sex.[27][28] In 2011, Christiane Vlling became the first intersex person known to have successfully sued for damages in a case brought for non-consensual surgical intervention.[29] In April 2015, Malta became the first country to outlaw non-consensual medical interventions to modify sex anatomy, including that of intersex people.[30][31]

According to the UN Office of the High Commissioner for Human Rights:

Intersex people are born with sex characteristics (including genitals, gonads and chromosome patterns) that do not fit typical binary notions of male or female bodies.Intersex is an umbrella term used to describe a wide range of natural bodily variations. In some cases, intersex traits are visible at birth while in others, they are not apparent until puberty. Some chromosomal intersex variations may not be physically apparent at all.[2]

According to World Health Organization:Intersex is defined as a congenital anomaly of the reproductive and sexual system. An estimate about the birth prevalence of intersex is difficult to make because there are no concrete parameters to the definition of intersex.

In biological terms, sex may be determined by a number of factors present at birth, including:[32]

People whose characteristics are not either all typically male or all typically female at birth are intersex.[33]

Some intersex traits are not always visible at birth; some babies may be born with ambiguous genitals, while others may have ambiguous internal organs (testes and ovaries). Others will not become aware that they are intersex unless they receive genetic testing, because it does not manifest in their phenotype.

From early history, societies have been aware of intersex people. Some of the earliest evidence is found in mythology: the Greek historian Diodorus Siculus wrote of the mythological Hermaphroditus in the first century BCE, who was "born with a physical body which is a combination of that of a man and that of a woman", and reputedly possessed supernatural properties.[34] Ardhanarishvara, an androgynous composite form of male deity Shiva and female deity Parvati, originated in Kushan culture as far back as the first century CE.[35] A statue depicting Ardhanarishvara is included in India's Meenkashi Temple; this statue clearly shows both male and female bodily elements.[36]

Hippocrates (c.460 c.370 BC Greek physician) and Galen (129 c.200/216 AD Roman physician, surgeon and philosopher) both viewed sex as a spectrum between men and women, with "many shades in between, including hermaphrodites, a perfect balance of male and female".[37] Pliny the Elder (AD 23/2479) the Roman naturalist described "those who are born of both sexes, whom we call hermaphrodites, at one time androgyni" (andr-, "man," and gyn-, "woman," from the Greek).[38] Augustine (354 28 August 430 AD) the influential catholic theologian wrote in The Literal Meaning of Genesis that humans were created in two sexes, despite "as happens in some births, in the case of what we call androgynes".[37]

In medieval and early modern European societies, Roman law, post-classical canon law, and later common law, referred to a person's sex as male, female or hermaphrodite, with legal rights as male or female depending on the characteristics that appeared most dominant.[39] The 12th-century Decretum Gratiani states that "Whether an hermaphrodite may witness a testament, depends on which sex prevails".[40][41][42] The foundation of common law, the 17th Century Institutes of the Lawes of England described how a hermaphrodite could inherit "either as male or female, according to that kind of sexe which doth prevaile."[43][44] Legal cases have been described in canon law and elsewhere over the centuries.

Some non-European societies have sex or gender systems that recognize more than the two categories of male/man and female/woman. Some of these cultures, for instance the South-Asian Hijra communities, may include intersex people in a third gender category.[45][46] Hawaiian culture in the past and today see intersex individuals as having more power "mana", both mentally and spiritually, than a single sex person. Althoughaccording to Morgan Holmesearly Western anthropologists categorized such cultures "primitive," Holmes has argued that analyses of these cultures have been simplistic or romanticized and fail to take account of the ways that subjects of all categories are treated.[47]

During the Victorian era, medical authors introduced the terms "true hermaphrodite" for an individual who has both ovarian and testicular tissue, "male pseudo-hermaphrodite" for a person with testicular tissue, but either female or ambiguous sexual anatomy, and "female pseudo-hermaphrodite" for a person with ovarian tissue, but either male or ambiguous sexual anatomy. Some later shifts in terminology have reflected advances in genetics, while other shifts are suggested to be due to pejorative associations.[48]

The term intersexuality was coined by Richard Goldschmidt in 1917.[49] The first suggestion to replace the term 'hermaphrodite' with 'intersex' was made by Cawadias in the 1940s.[50]

Since the rise of modern medical science, some intersex people with ambiguous external genitalia have had their genitalia surgically modified to resemble either female or male genitals. Surgeons pinpointed intersex babies as a "social emergency" when born.[51] An 'optimal gender policy', initially developed by John Money, stated that early intervention helped avoid gender identity confusion, but this lacks evidence.[52] Early interventions have adverse consequences for psychological and physical health.[21] Since advances in surgery have made it possible for intersex conditions to be concealed, many people are not aware of how frequently intersex conditions arise in human beings or that they occur at all.[53]

Dialogue between what were once antagonistic groups of activists and clinicians has led to only slight changes in medical policies and how intersex patients and their families are treated in some locations.[54] In 2011, Christiane Vlling became the first intersex person known to have successfully sued for damages in a case brought for non-consensual surgical intervention.[29] In April 2015, Malta became the first country to outlaw non-consensual medical interventions to modify sex anatomy, including that of intersex people.[30] Many civil society organizations and human rights institutions now call for an end to unnecessary "normalizing" interventions, including in the Malta declaration.[55][1]

Human rights institutions are placing increasing scrutiny on harmful practices and issues of discrimination against intersex people. These issues have been addressed by a rapidly increasing number of international institutions including, in 2015, the Council of Europe, the United Nations Office of the United Nations High Commissioner for Human Rights and the World Health Organization. These developments have been accompanied by International Intersex Forums and increased cooperation amongst civil society organizations. However, the implementation, codification, and enforcement of intersex human rights in national legal systems remains slow.

Regulatory suspension of non-consensual medical interventions

Stigmatization and discrimination from birth may include infanticide, abandonment, and the stigmatization of families. As noted in the "Intersex human rights" page, the birth of an intersex child was often viewed as a curse or a sign of a witch mother, especially in parts of Africa.[12][13] Abandonments and infanticides have been reported in Uganda,[12] Kenya,[56] South Asia,[57] and China.[14]

Infants, children and adolescents also experience "normalising" interventions on intersex persons that are medically unnecessary and the pathologisation of variations in sex characteristics. In countries where the human rights of intersex people have been studied, medical interventions to modify the sex characteristics of intersex people have still taken place without the consent of the intersex person.[58][59] Interventions have been described by human rights defenders as a violation of many rights, including (but not limited to) bodily integrity, non-discrimination, privacy, and experimentation.[60] These interventions have frequently been performed with the consent of the intersex person's parents, when the person is legally too young to consent. Such interventions have been criticized by the World Health Organization, other UN bodies such as the Office of the High Commissioner for Human Rights, and an increasing number of regional and national institutions due to their adverse consequences, including trauma, impact on sexual function and sensation, and violation of rights to physical and mental integrity.[1] The UN organizations decided that infant intervention should not be allowed, in favor of waiting for the child to mature enough to be a part of the decision-making this allows for a decision to be made with total consent.[61] In April 2015, Malta became the first country to outlaw surgical intervention without consent.[30][31] In the same year, the Council of Europe became the first institution to state that intersex people have the right not to undergo sex affirmation interventions.[30][31][62][63][64]

Explicit protection on grounds of intersex status

Explicit protection on grounds of intersex within attribute of sex

People born with intersex bodies are seen as different. Intersex infants, children, adolescents and adults "are often stigmatized and subjected to multiple human rights violations", including discrimination in education, healthcare, employment, sport, and public services.[2][1][65] Several countries have so far explicitly protected intersex people from discrimination, with landmarks including South Africa,[31][66] Australia,[67][68] and, most comprehensively, Malta.[69][70][71][72][73]

Standing to file in law and compensation claims was an issue in the 2011 case of Christiane Vlling in Germany.[29][74] A second case was adjudicated in Chile in 2012, involving a child and his parents.[75][76] A further successful case in Germany, taken by Michaela Raab, was reported in 2015.[77] In the United States, the Minor Child (M.C. v Aaronson) lawsuit was "a medical malpractice case related to the informed consent for a surgery performed on the Crawford's adopted child (known as M.C.) at [Medical University of South Carolina] in April 2006".[78] The case was one of the first lawsuit of its kind to challenge "legal, ethical, and medical issues regarding genital-normalizing surgery" in minors, and was eventually settled out of court by the Medical University of South Carolina for $440,000 in 2017.[79]

Access to information, medical records, peer and other counselling and support. With the rise of modern medical science in Western societies, a secrecy-based model was also adopted, in the belief that this was necessary to ensure "normal" physical and psychosocial development.[20][21][80][81][82][83]

The Asia Pacific Forum of National Human Rights Institutions states that legal recognition is firstly "about intersex people who have been issued a male or a female birth certificate being able to enjoy the same legal rights as other men and women."[22] In some regions, obtaining any form of birth certification may be an issue. A Kenyan court case in 2014 established the right of an intersex boy, "Baby A", to a birth certificate.[84]

Like all individuals, some intersex individuals may be raised as a certain sex (male or female) but then identify with another later in life, while most do not.[85][27][pageneeded][86][87] Recognition of third sex or gender classifications occurs in several countries,[88][89][90][91] However, it is controversial when it becomes assumed or coercive, as is the case with some German infants.[92][93] Sociological research in Australia, a country with a third 'X' sex classification, shows that 19% of people born with atypical sex characteristics selected an "X" or "other" option, while 52% are women, 23% men, and 6% unsure.[28][94]

Research in the late 20th century led to a growing medical consensus that diverse intersex bodies are normal, but relatively rare, forms of human biology.[27][pageneeded][95][96][97] Clinician and researcher Milton Diamond stresses the importance of care in the selection of language related to intersex people:

Foremost, we advocate use of the terms "typical", "usual", or "most frequent" where it is more common to use the term "normal." When possible avoid expressions like maldeveloped or undeveloped, errors of development, defective genitals, abnormal, or mistakes of nature. Emphasize that all of these conditions are biologically understandable while they are statistically uncommon.[98]

Some people with intersex traits self-identify as intersex, and some do not.[99][100] Australian sociological research published in 2016, found that 60% of respondents used the term "intersex" to self-describe their sex characteristics, including people identifying themselves as intersex, describing themselves as having an intersex variation or, in smaller numbers, having an intersex condition. A majority of 75% of survey respondents also self-described as male or female.[28] Respondents also commonly used diagnostic labels and referred to their sex chromosomes, with word choices depending on audience.[28][94] Research by the Lurie Children's Hospital, Chicago, and the AIS-DSD Support Group published in 2017 found that 80% of affected Support Group respondents "strongly liked, liked or felt neutral about intersex" as a term, while caregivers were less supportive.[101] The hospital reported that "disorders of sex development" may negatively affect care.[102]

Some intersex organizations reference "intersex people" and "intersex variations or traits"[103] while others use more medicalized language such as "people with intersex conditions",[104] or people "with intersex conditions or DSDs (differences of sex development)" and "children born with variations of sex anatomy".[105] In May 2016, Interact Advocates for Intersex Youth published a statement recognizing "increasing general understanding and acceptance of the term "intersex"".[106]

However, a study by the American Urological Association found that 53% of participants didnt like the term intersex.[107] Another study in 2020 found that 43% didnt like the term intersex.[108] Another study in 2020 found that around 43% of 179 participants thought the term intersex was bad, while 20% felt neutral about the term.[109]

A hermaphrodite is an organism that has both male and female reproductive organs. Until the mid-20th century, "hermaphrodite" was used synonymously with "intersex".[50] The distinctions "male pseudohermaphrodite", "female pseudohermaphrodite" and especially "true hermaphrodite"[110] are terms no longer used, which reflected histology (microscopic appearance) of the gonads.[111][112][113] Medical terminology has shifted not only due to concerns about language, but also a shift to understandings based on genetics.

Currently, hermaphroditism is not to be confused with intersex, as the former refers only to a specific phenotypical presentation of sex organs and the latter to a more complex combination of phenotypical and genotypical presentation. Using hermaphrodite to refer to intersex individuals is considered to be stigmatizing and misleading.[114] Hermaphrodite is used for animal and plant species in which the possession of both ovaries and testes is either serial or concurrent, and for living organisms without such gonads but present binary form of reproduction, which is part of the typical life history of those species; intersex has come to be used when this is not the case.

"Disorders of sex development" (DSD) is a contested term,[9][10] defined to include congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Members of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology adopted this term in their "Consensus statement on management of intersex disorders".[8][52] While it adopted the term, to open "many more doors", the now defunct Intersex Society of North America itself remarked that intersex is not a disorder.[115] Other intersex people, activists, supporters, and academics have contested the adoption of the terminology and its implied status as a "disorder", seeing this as offensive to intersex individuals who do not feel that there is something wrong with them, regard the DSD consensus paper as reinforcing the normativity of early surgical interventions, and criticize the treatment protocols associated with the new taxonomy.[116]

Sociological research in Australia, published in 2016, found that 3% of respondents used the term "disorders of sex development" or "DSD" to define their sex characteristics, while 21% use the term when accessing medical services. In contrast, 60% used the term "intersex" in some form to self-describe their sex characteristics.[94] U.S. research by the Lurie Children's Hospital, Chicago, and the AIS-DSD Support Group published in 2017 found that "disorders of sex development" terminology may negatively affect care, give offense, and result in lower attendance at medical clinics.[102][101]

Alternatives to categorizing intersex conditions as "disorders" have been suggested, including "variations of sex development".[11] Organisation Intersex International (OII) questions a disease/disability approach, argues for deferral of intervention unless medically necessary, when fully informed consent of the individual involved is possible, and self-determination of sex/gender orientation and identity.[117] The UK Intersex Association is also highly critical of the label 'disorders' and points to the fact that there was minimal involvement of intersex representatives in the debate which led to the change in terminology.[118] In May 2016, Interact Advocates for Intersex Youth also published a statement opposing pathologizing language to describe people born with intersex traits, recognizing "increasing general understanding and acceptance of the term "intersex"".[106]

However, another study found that around 69% agree the term disorders of sex development applied to their condition or were neutral, 31% thought the term didnt apply to their condition.[119]

Intersex can be contrasted with transgender,[120] which is the condition in which one's gender identity does not match one's assigned sex.[120][121][122] Some people are both intersex and transgender.[123] A 2012 clinical review paper found that between 8.5% and 20% of people with intersex variations experienced gender dysphoria.[86] In an analysis of the use of preimplantation genetic diagnosis to eliminate intersex traits, Behrmann and Ravitsky state: "Parental choice against intersex may ... conceal biases against same-sex attractedness and gender nonconformity."[124]

The relationship of intersex to lesbian, gay, bisexual and trans, and queer communities is complex,[125] but intersex people are often added to LGBT to create an LGBTI community. Emi Koyama describes how inclusion of intersex in LGBTI can fail to address intersex-specific human rights issues, including creating false impressions "that intersex people's rights are protected" by laws protecting LGBT people, and failing to acknowledge that many intersex people are not LGBT.[126] Organisation Intersex International Australia states that some intersex individuals are same sex attracted, and some are heterosexual, but "LGBTI activism has fought for the rights of people who fall outside of expected binary sex and gender norms."[127][128] Julius Kaggwa of SIPD Uganda has written that, while the gay community "offers us a place of relative safety, it is also oblivious to our specific needs".[129] Mauro Cabral has written that transgender people and organizations "need to stop approaching intersex issues as if they were trans issues" including use of intersex as a means of explaining being transgender; "we can collaborate a lot with the intersex movement by making it clear how wrong that approach is".[130]

An intersex character is the narrator in Jeffrey Eugenides' Pulitzer Prize-winning novel Middlesex.

The memoir, Born Both: An Intersex Life (Hachette Books, 2017), by intersex author and activist Hida Viloria, received strong praise from The New York Times Book Review, The Washington Post, Rolling Stone, People Magazine, and Psychology Today, was one of School Library Journal's 2017 Top Ten Adult Books for Teens, and was a 2018 Lambda Literary Award nominee.

Television works about intersex and films about intersex are scarce. The Spanish-language film XXY won the Critics' Week grand prize at the 2007 Cannes Film Festival and the ACID/CCAS Support Award.[131] Faking It is notable for providing both the first intersex main character in a television show,[132] and television's first intersex character played by an intersex actor.[133]

Intersex peer support and advocacy organizations have existed since at least 1985, with the establishment of the Androgen Insensitivity Syndrome Support Group Australia in 1985.[134] The Androgen Insensitivity Syndrome Support Group (UK) established in 1988.[135] The Intersex Society of North America (ISNA) may have been one of the first intersex civil society organizations to have been open to people regardless of diagnosis; it was active from 1993 to 2008.[136]

Intersex Awareness Day is an internationally observed civil awareness day designed to highlight the challenges faced by intersex people, occurring annually on 26 October. It marks the first public demonstration by intersex people, which took place in Boston on 26 October 1996, outside a venue where the American Academy of Pediatrics was holding its annual conference.[137]

Intersex Day of Remembrance, also known as Intersex Solidarity Day, is an internationally observed civil awareness day designed to highlight issues faced by intersex people, occurring annually on 8 November. It marks the birthday of Herculine Barbin, a French intersex person whose memoirs were later published by Michel Foucault in Herculine Barbin: Being the Recently Discovered Memoirs of a Nineteenth-century French Hermaphrodite.

In Hinduism, Sangam literature uses the word pedi to refer to people born with an intersex condition; it also refers to antharlinga hijras and various other hijras.[138] Warne and Raza argue that an association between intersex and hijra people is mostly unfounded but provokes parental fear.[57]

In Judaism, the Talmud contains extensive discussion concerning the status of two intersex types in Jewish law; namely the androgynous, which exhibits both male and female external sexual organs, and the tumtum which exhibits neither. In the 1970s and 1980s, the treatment of intersex babies started to be discussed in Orthodox Jewish medical halacha by prominent rabbinic leaders, for example Eliezer Waldenberg and Moshe Feinstein.[139]

Erik Schinegger, Foekje Dillema, Maria Jos Martnez-Patio and Santhi Soundarajan were subject to adverse sex verification testing resulting in ineligibility to compete in organised competitive competition. Stanisawa Walasiewicz was posthumously ruled ineligible to have competed.[140]

The South African middle-distance runner Caster Semenya won gold at the World Championships in the women's 800 metres and won silver in the 2012 Summer Olympics. When Semenya won gold in the World Championships, the International Association of Athletics Federations (IAAF) requested sex verification tests. The results were not released. Semenya was ruled eligible to compete.[141]

Katrina Karkazis, Rebecca Jordan-Young, Georgiann Davis and Silvia Camporesi have claimed that IAAF policies on "hyperandrogenism" in female athletes, are "significantly flawed", arguing that the policy will not protect against breaches of privacy, will require athletes to undergo unnecessary treatment in order to compete, and will intensify "gender policing". They recommend that athletes be able to compete in accordance with their legally recognised gender.[142]

In April 2014, the BMJ reported that four elite women athletes with 5-ARD (an intersex medical condition) were subjected to sterilization and "partial clitoridectomies" in order to compete in sport. The authors noted that partial clitoridectomy was "not medically indicated" and "does not relate to real or perceived athletic 'advantage'."[16] Intersex advocates regard this intervention as "a clearly coercive process".[143] In 2016, the United Nations Special Rapporteur on health, Dainius Pras, criticized "current and historic" sex verification policies, describing how "a number of athletes have undergone gonadectomy (removal of reproductive organs) and partial clitoridectomy (a form of female genital mutilation) in the absence of symptoms or health issues warranting those procedures."[144]

Estimates of the number of people who are intersex vary, depending on which conditions are counted as intersex.[145]

Leonard Sax estimated that the prevalence of intersex was about 0.018% of the world's population.[145] A 2018 review reported that the number of births with ambiguous genitals is in the range of 0.02% to 0.05%.[25]

The now-defunct Intersex Society of North America stated that:

If you ask experts at medical centers how often a child is born so noticeably atypical in terms of genitalia that a specialist in sex differentiation is called in, the number comes out to about 1 in 1500 to 1 in 2000 births [0.070.05%]. But a lot more people than that are born with subtler forms of sex anatomy variations, some of which won't show up until later in life.[146]

Anne Fausto-Sterling and her co-authors said in two articles in 2000 that 1.7 percent of human births (1 in 60) might be intersex, including variations that may not become apparent until, for example, puberty, or until attempting to conceive.[147][148] Their publications have been widely quoted,[62][149][150] though aspects are now considered outdated, such as use of the now scientifically incorrect term hermaphrodite.[151]Eric Vilain et al. highlighted in 2007 that the term disorders of sex development (DSD) had replaced "hermaphrodite" and improper medical terms based on it.[152]

Of the 1.7%, 1.5 percentage points (88% of those considered intersex in this figure) consist of individuals with late onset congenital adrenal hyperplasia (LOCAH). Leonard Sax stated that "[f]rom a clinicians perspective, however, LOCAH is not an intersex condition."[145]

The figure of 1.7% is still maintained by Intersex Human Rights Australia "despite its flaws".[153] "This estimate relates to any 'individual who deviates from the Platonic ideal of physical dimorphism at the chromosomal, genital, gonadal, or hormonal levels' and thus it encapsulates the entire population of people who are stigmatized or risk stigmatization due to innate sex characteristics."

Individuals with diagnoses of disorders of sex development (DSD) may or may not experience stigma and discrimination due to their sex characteristics, including sex "normalizing" interventions. Human rights institutions have called for the de-medicalization of intersex traits, as far as possible.[20][62][154][155]

The following summarizes some prevalence figures of intersex traits (a fuller 'List of conditions' is provided below, at the end of 'Medical classifications'):

Population figures can vary due to genetic causes. In the Dominican Republic, 5-alpha-reductase deficiency is not uncommon in the town of Las Salinas, resulting in social acceptance of the intersex trait.[175] Men with the trait are called "gevedoces" (Spanish for "eggs at twelve"). 12 out of 13 families had one or more male family members that carried the gene. The overall incidence for the town was 1 in every 90 males were carriers, with other males either non-carriers or non-affected carriers.[176]

The common pathway of sexual differentiation, where a productive human female has an XX chromosome pair, and a productive male has an XY pair, is relevant to the development of intersex conditions.

During fertilization, the sperm adds either an X (female) or a Y (male) chromosome to the X in the ovum. This determines the genetic sex of the embryo.[177] During the first weeks of development, genetic male and female fetuses are "anatomically indistinguishable", with primitive gonads beginning to develop during approximately the sixth week of gestation. The gonads, in a "bipotential state", may develop into either testes (the male gonads) or ovaries (the female gonads), depending on the consequent events.[177] Through the seventh week, genetically female and genetically male fetuses appear identical.

At around eight weeks of gestation, the gonads of an XY embryo differentiate into functional testes, secreting testosterone. Ovarian differentiation, for XX embryos, does not occur until approximately week 12 of gestation. In typical female differentiation, the Mllerian duct system develops into the uterus, Fallopian tubes, and inner third of the vagina.In males, the Mllerian duct-inhibiting hormone MIH causes this duct system to regress. Next, androgens cause the development of the Wolffian duct system, which develops into the vas deferens, seminal vesicles, and ejaculatory ducts.[177]By birth, the typical fetus has been completely "sexed" male or female, meaning that the genetic sex (XY-male or XX-female) corresponds with the phenotypical sex; that is to say, genetic sex corresponds with internal and external gonads, and external appearance of the genitals.

There are a variety of symptoms that can occur. Ambiguous genitalia being the most common sign, there can be micropenis, clitoromegaly, partial labial fusion, electrolyte abnormalities, delayed or absent puberty, unexpected changes at puberty, hypospadias, labial or inguinal (groin) masses (which may turn out to be testes) in girls and undescended testes (which may turn out to be ovaries) in boys.[178]

Ambiguous genitalia may appear as a large clitoris or as a small penis.

Because there is variation in all of the processes of the development of the sex organs, a child can be born with a sexual anatomy that is typically female or feminine in appearance with a larger-than-average clitoris (clitoral hypertrophy) or typically male or masculine in appearance with a smaller-than-average penis that is open along the underside. The appearance may be quite ambiguous, describable as female genitals with a very large clitoris and partially fused labia, or as male genitals with a very small penis, completely open along the midline ("hypospadic"), and empty scrotum. Fertility is variable.

The orchidometer is a medical instrument to measure the volume of the testicles. It was developed by Swiss pediatric endocrinologist Andrea Prader. The Prader scale[179] and Quigley scale are visual rating systems that measure genital appearance. These measurement systems were satirized in the Phall-O-Meter, created by the (now defunct) Intersex Society of North America.[180][181][182]

In order to help in classification, methods other than a genitalia inspection can be performed. For instance, a karyotype display of a tissue sample may determine which of the causes of intersex is prevalent in the case. Additionally, electrolyte tests, endoscopic exam, ultrasound and hormone stimulation tests can be done.[183]

Intersex can be divided into four categories which are: 46, XX intersex; 46, XY intersex; true gonadal intersex; and complex or undetermined intersex.[citation needed]

This condition used to be called "female pseudohermaphroditism". Persons with this condition have female internal genitalia and karyotype (XX) and various degree of external genitalia virilization.[184] External genitalia is masculinized congenitally when female fetus is exposed to excess androgenic environment.[178] Hence, the chromosome of the person is of a woman, the ovaries of a woman, but external genitals that appear like a male. The labia fuse, and the clitoris enlarges to appear like a penis. The causes of this can be male hormones taken during pregnancy, congenital adrenal hyperplasia, male-hormone-producing tumors in the mother and aromatase deficiency.[178]

This condition used to be called "male pseudohermaphroditism". This is defined as incomplete masculinization of the external genitalia.[185] Thus, the person has the chromosomes of a man, but the external genitals are incompletely formed, ambiguous, or clearly female.[178][186] This condition is also called 46, XY with undervirilization.[178] 46, XY intersex has many possible causes, which can be problems with the testes and testosterone formation.[178] Also, there can be problems with using testosterone. Some people lack the enzyme needed to convert testosterone to dihydrotestosterone, which is a cause of 5-alpha-reductase deficiency.[178] Androgen Insensitivity Syndrome is the most common cause of 46, XY intersex.[178]

This condition used to be called "true hermaphroditism". This is defined as having asymmetrical gonads with ovarian and testicular differentiation on either sides separately or combined as ovotestis.[187] In most cases, the cause of this condition is unknown; however, some research has linked it to exposure to common agricultural pesticides.[187]

This is the condition of having any chromosome configurations rather than 46, XX or 46, XY intersex.[178] This condition does not result in any imbalance between internal and external genitalia.[178] However, there may be problems with sex hormone levels, overall sexual development, and altered numbers of sex chromosomes.[178]

There are a variety of opinions on what conditions or traits are and are not intersex, dependent on the definition of intersex that is used. Current human rights based definitions stress a broad diversity of sex characteristics that differ from expectations for male or female bodies.[2] During 2015, the Council of Europe,[62] the European Union Agency for Fundamental Rights[154] and Inter-American Commission on Human Rights[155] have called for a review of medical classifications on the basis that they presently impede enjoyment of the right to health; the Council of Europe expressed concern that "the gap between the expectations of human rights organisations of intersex people and the development of medical classifications has possibly widened over the past decade".[62][154][155]

Medical interventions take place to address physical health concerns and psychosocial risks. Both types of rationale are the subject of debate, particularly as the consequences of surgical (and many hormonal) interventions are lifelong and irreversible. Questions regarding physical health include accurately assessing risk levels, necessity, and timing. Psychosocial rationales are particularly susceptible to questions of necessity as they reflect social and cultural concerns.

There remains no clinical consensus about an evidence base, surgical timing, necessity, type of surgical intervention, and degree of difference warranting intervention.[188][189][190] Such surgeries are the subject of significant contention due to consequences that include trauma, impact on sexual function and sensation, and violation of rights to physical and mental integrity.[1] This includes community activism,[48] and multiple reports by international human rights[18][62][22][191] and health[83] institutions and national ethics bodies.[21][192]

In the cases where gonads may pose a cancer risk, as in some cases of androgen insensitivity syndrome,[193] concern has been expressed that treatment rationales and decision-making regarding cancer risk may encapsulate decisions around a desire for surgical "normalization".[20]

Notes

Bibliography

Media related to Intersex at Wikimedia Commons

Read more:
Intersex - Wikipedia

The human geneticist Bryan Sykes, who has died aged 73, pushed forward the analysis of inherited conditions such as brittle bone disease and double-jointedness, and was one of the first to extract DNA from ancient bone.

The same Bryan Sykes, holder of a personal chair at Oxford University, analysed hair supposedly taken from mythical hominids such as the Bigfoot and Yeti, and announced the results in a three-part television series. His delight in science and enthusiasm for communicating it to popular audiences were both aspects of an expansive personality that alternately inspired and exasperated his colleagues.

Sykes was not the only one to realise that the ability to read sequences of DNA code opened up the possibility of tracing human ancestry to our early origins. He was exceptional, however, in seeing that the wider public would connect emotionally to these stories if the dry details of the science could be presented accessibly. His book The Seven Daughters of Eve (2001) proposed that every living European could trace his or her ancestry to one of seven women living between 8,500 and 45,000 years ago. They, in turn, would share descent from a single Eve, who lived in Africa even earlier. He gave the seven women names and, anticipating peoples desire to know which tribe they belonged to, the same year set up the first direct-to-consumer genetic testing company, Oxford Ancestors, as an Oxford University spinout.

Sykes began this work long before modern methods of whole-genome DNA sequencing were available. When, in the late 1980s, he, Erica Hagelberg and Robert Hedges of Oxfords Research Laboratory for Archaeology first extracted DNA from bones up to 12,000 years old, they opted to focus on mitochondrial DNA (mtDNA). There are more than 1,000 mitochondria in each cell but only one nucleus (where most of our DNA resides), increasing the chances of retrieving mtDNA. But Sykes soon appreciated that it has another property. It is inherited largely unchanged in the maternal line over thousands of years, while nuclear DNA is mixed with every generation. To test whether it would be possible to use mtDNA to trace distant ancestors, Sykes first confirmed that domesticated golden hamsters from numerous locations, which he had heard were all descended from a single wild-caught female, had the same signature in their mtDNA.

Sykes went on to use this method to solve the mystery of the origins of islanders scattered throughout the Pacific Ocean: whether they had arrived from the Americas, as Thor Heyerdahl had suggested on the basis of the 1947 voyage of the Kon-Tiki raft, or from Asia. Receiving hospital treatment on Raratonga in the Cook Islands after a motorcycle accident while on holiday in the mid-90s, Sykes realised he could resolve this uncertainty using mtDNA. He went on to collect samples from Pacific islands and Pacific Rim countries, and established that Polynesia was in fact entirely settled from Asia.

In 1987 he won a British Association for the Advancement of Science media fellowship that enabled him to spend seven weeks working with Channel 4 News. The lessons he learned about what makes a good story came to the fore in Seven Daughters and his subsequent books.

Adams Curse (2003) drew some controversial conclusions about the influence of the Y chromosome on male behaviour, but also covered studies that traced descent via Y chromosomes. These pass from father to son, like British surnames, though without the uncertainty introduced by nonpaternity events. When the chairman of the pharmaceutical company GlaxoSmithKline, Sir Richard Sykes, wondered if the two of them might be related, Bryan collected DNA from dozens of Sykeses in Britain. He discovered that more than half of them shared the same unusual Y chromosome variant, suggesting a single founding father in Yorkshire in the 13th or 14th century.

His collaboration with enthusiasts searching for the Bigfoot and Yeti raised eyebrows even higher. Hairs from bits of mystery creatures that had long lain in museums and temples made their way to his lab. The three-part Channel 4 series Bigfoot Files (2015) maintained the suspense to the end, but all the samples proved to come from known animal species. A hasty claim that a Yeti specimen was a match to a prehistoric polar bear proved to be a case of mistaken identity. For Sykes it was all education as entertainment he never seriously believed that such creatures existed, but sought to encourage curiosity rather than squashing it.

Born in London, Bryan was the son of Frank Sykes, an accountant, and his wife, Irene. He attended the independent boys school Eltham college, near his home in south-east London, and developed passions for the natural world, experiments and inventions. He also excelled at cross-country running, rugby and swimming.

He studied biochemistry at the University of Liverpool, and did a PhD at the University of Bristol on the connective tissue protein elastin. He arrived at Oxford in 1973 as a research fellow in the Nuffield department of orthopaedic surgery, continuing to work on elastin and collagen. By the time he was appointed lecturer in molecular pathology in 1987, he was deploying new genetic techniques to explore inherited disorders of bone and connective tissue. His collagen genetics group moved from orthopaedic surgery to Oxfords newly established Institute of Molecular Medicine, founded by the geneticist Sir David Weatherall, who was an important mentor. He was appointed to a personal chair in human genetics in 1997, and formally retired in 2016.

Sykess expertise in bone led to his involvement in the effort to extract DNA from ancient specimens. As his interest in studies of human populations developed, he recruited lab members who worked in that area alongside those who continued his pathological studies. Colleagues remember the lab as being unusually collaborative, though occasionally disrupted by TV cameras, and Sykes himself as encouraging and supportive. He took them all to Scotland in 1998 to assist with the collection of samples for his work on prehistoric migration into Britain (published as Blood of the Isles, 2006). A keen fisherman, he got out his rods in the bar of their hotel to teach them how to cast a fly.

Sykes was extremely smart and a brilliant communicator, with a streak of mischief: he didnt turn a hair when Italian colleagues casually invited him to access the bone store at Pompeii by climbing over a fence (they had arrived before opening time), and there was always champagne in the lab when anyone published a paper.

Sykes met Sue Foden when she was a student in Oxford, and they were married in 1978. Though the marriage was annulled in 1984, he and Sue remained close and had a son, Richard, born in 1991. His later marriage to Janis Wilson ended in divorce. In 2007 he collaborated with the Danish artist Ulla Plougmand on an exhibition featuring the seven daughters of Eve, and their subsequent relationship lasted until the end of his life. In later years, as his health deteriorated, Bryan was increasingly supported and cared for by Sue. She, Ulla and Richard survive him.

Bryan Clifford Sykes, geneticist, born 9 September 1947; died 10 December 2020

See original here:
Bryan Sykes obituary - The Guardian

Smoking is consistently seen as a risk for various cancers, and in recent years it has been connected to colorectal cancer in particular. In 2014, the US Surgeon General issued a report on tobacco claiming smoking as a direct cause of colorectal and liver cancer, and a factor that increases the failure rate of cancer treatment.

Several studies have been conducted that assess the link between smoking and colorectal cancer, including one in 2020 in the American Journal of Epidemiology examining how anatomic subsite and sex affect risk. What are some of the specific colorectal cancer risks clinicians can discuss with patients who smoke?

This study evaluated more than 215,000 men and women from 45 to 75 years old. These participants were enrolled from 1993 to 1996 and answered a questionnaire that included information on their smoking habits and ascertained information on colorectal cancer history through either their death or through December 31, 2013.

The researchers found that while female smokers had less pack-years of smoking than male smokers, both sexes had similar smoking-related risk for colorectal cancer. Clinicians should make their female patients aware that they may be putting themselves at significant risk for colorectal cancer regardless of how long they have been smoking.

The researchers also found that postmenopausal women in particular had high smoking-related risk of right colon cancer. This finding held true regardless of whether participants had undergone hormone therapy during menopause. When discussing smoking-related risks for women, physicians should let these patients know that they may face even greater risk once they go through menopause.

An October 2020 study published in Cancer Research and Management investigated colorectal cancer risk factors and found tobacco use to be a significant contributing factor. In addition to estimating that 12% of colorectal cancer deaths can be attributed to tobacco use, the researchers claim that smokers showed an earlier average age of onset of colorectal cancer.

Frequent alcohol consumption has also been associated with colorectal cancer risk. Patients who smoke should be advised of this, as there can be a social relationship between alcohol and tobacco use that can potentially increase add risk.

Smoking in tandem with certain diseases may present individuals with unique risks. A 2020 study published in Medicine (Baltimore) looked at risk factors associated with colorectal cancer in patients with ulcerative colitis. The researchers found that while only 5.5% of the 254 subjects were smokers at their last recorded appointment, active smoking was a significant risk factor for colorectal cancer. In this study, former smokers were categorized as nonsmokers.

Although any smoking history may be a risk for colorectal cancer, medical professionals may want to warn patients that active and prolonged smoking habits may present an added risk for them.

References

Read more here:
Smoking Risks for Colorectal Cancer to Discuss With Patients - Cancer Therapy Advisor

In 1932, when there was no known treatment for syphilis, the US Public Health Service (PHS) began a study into the disease at the Tuskegee Institute. The agency recruited 600 Black men into the project, primarily impoverished sharecroppers who had never visited a doctor before. Of this group, 399 had latent syphilis, while 201 others were disease-free. The participants were informed that they were being treated for bad blood, a colloquialism that was used at the time to describe numerous conditions.

The men were treated with placebos, such as aspirin and supplements, even after penicillin began to be recommended to treat syphilis in 1947, so that researchers could use them to follow the full progression of the disease. The men were not helped even as the disease progressed to late-stage infection, in which people experience a wide range of neurological symptoms including erratic behaviour, paralysis, sensory loss and eventually death. It can take up to 20 years from initial infection for these symptoms to manifest.

Details of the study were leaked to the press by a social worker and epidemiologist named Peter Buxtun in 1972. Buxtun had learned of the existence of the study in 1965 when he began working for the PHS and had unsuccessfully attempted to get it shut down twice over the following years. The story prompted public outrage and forced the study to finally be cancelled, four decades after it initially began.

By this stage, 28 of the participants had died from syphilis and 100 more had died of related complications. At least 40 of their spouses had been diagnosed with the disease and it had been passed down to 19 of the participants children.

Historical atrocities such as the Tuskegee experiment have left many people from communities of colour distrustful of the medical sector. Its a major problem, one that has become even more serious in the age of Covid-19.

People of colour have been shown to face higher mortality rates from the disease in both the US and UK. This is due to a multitude of intersecting demographic, geographical and socioeconomic factors, such as place of residence and occupational exposures. Extensive evidence also indicates that people of colour still do not receive the same levels of care as white people in community healthcare settings, which only exacerbates the matter.

Now, surveys in the US have shown that Covid-19 vaccine hesitancy is significantly higher among Black people than white people, with half of Black adults saying they wont take a Covid-19 vaccine. Likewise, a UK study has found that Black, Asian and minority ethnic (BAME) people were almost three times more likely to reject a Covid-19 vaccine for themselves and their children than the white population.

This mistrust is unsurprising given that US surveys have found medical staff to be less communicative with non-white patients than with white patients. A 2016 study even found that white medical students in the US were shockingly likely to believe Black patients experienced less pain than white patients.

Across the pond, BAME patients in the UK have reported lower satisfaction with the NHS and an overall less positive experience with doctors and nurses than white patients. Black women in the UK are five times more likely than white women to die during childbirth, and over 60% of Black people do not believe their health is as protected by the NHS as white peoples is.

Black people have generationally been hesitant to engage on initiatives like clinical trials and vaccines, says African Caribbean Leukaemia Trust (ACLT) co-founder and CEO Orin Lewis OBE. Thats historical, based on what has been done to the Black race for a long, long time throughout our history. People start to feel that if the medical establishment is going to trial something, theyll try it first on Black people, because were expendable. Whether thats true or not, it very much becomes folklore and trust becomes a problem.

People of colour are also less likely than white people to volunteer to take part in medical research. In the UK, 93% of people who signed up for the trials registry for the development of the Covid-19 vaccine were white.

People of colour have disproportionately suffered throughout the pandemic, in both the UK and US, but the legacy of institutional racism in medicine still leaves many mistrustful of the Covid-19 vaccine.

The medical establishment doesnt want to acknowledge this, they just kind of want to forget about it, says TruGenomix co-founder and chief scientific officer Dr Tshaka Cunningham. Thats not what certain communities are dealing with, particularly the African American community. That type of stuff leaves a psychological scar, but it can be overcome with rebuilding.

One way to heal these historic wounds, Cunningham says, is through the work of medical industry honest brokers. Honest brokers refer here to people of colour who are knowledgeable about medical matters, who can then share this insight with other members of their community.

Cunningham says: Lets say I were to bring a white male scientist in to talk to a group of African American church members. Theyre going to listen and be polite, but theyre not really going to trust it. When I deliver the same message, but Im just from the community, it gives a certain level of authenticity to it that helps them get over their distrust.

As a member of the Faith-based Genetic Research Institute, Cunningham goes into communities of colour predominantly African American churches to talk about genetics and genomics research and how and why people of colour can and should get involved. This year, these conversations have expanded to Covid-19 too.

Cunningham says: What I do almost daily is interface with different groups of people of colour, even in my local networks, about Covid-19 and how to stay safe. Ive done podcasts, Ive been on internet shows, Ive been on Instagram feeds with prominent hosts, talking specifically to minority communities about what we need to do to stay safe and debunking any myths that they have.

The burden here cannot fall on the honest broker alone its important work, but theres a limit to what can be expected of individual people facing up to an issue that requires institutional change. The medical industry at large, from pharmaceutical companies to public health organisations, needs to do far, far more.

Cunningham says: Once you have more Black and Brown people participating, it cant just be all on them to build the trust. Trust is a two-way street. People need to be really authentic and engaged and not view themselves as other or their patients as other.

I give some very simple solutions. Firstly, diversify the medical workforce, diversify the scientific research workforce and be very intentional about it. If you havent created opportunities or blocked certain groups from having opportunities to get training and to rise up in careers in these areas, then stop that process, because thats institutional racism.

Secondly, be authentic, engage with the community and allow the community to share in the profits that come out of their participation. Dont come to the Black and Brown community and say give us your health information and not give anything back.

I think a final piece is that just as the government has contributed to making it bad, they need to contribute to making it better. That will require some specific funding on things like cultural competency training.

The best thing to do would be some public health campaigns with scientists like myself alongside prominent sporting figures and celebrities. Lets say you took LeBron James and teamed him with me and some of my scientific colleagues that are people of colour and did a PSA about the vaccine that would send the right message to people.

The historical suffering of people of colour at the hands of the medical establishment isnt something that can be overcome overnight. The industry urgently needs to pay more credence to the concerns and fears of people of colour, in order to build the level of trust needed to ensure that vaccine uptake among ethnic minorities.

Theres no silver bullet, and things like grassroots community advocacy and engagement, diversifying the face of the industry and public health campaigns targeted at people of colour will all be necessary in ensuring the uptake of the vaccine and developing a medical industry that serves the needs of all patients.

Passive Thermal Protection and Cargo Security Solutions for the Global Supply Chain

28 Aug 2020

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Racism in the medical industry could harm the Covid-19 vaccine rollout - pharmaceutical-technology.com

Supporting stockmen in the region is a crucial part of the clubs activities and a fantastic display of young animals were brought forward to the selected venues Ballymena, Hilltown, Swatragh, Enniskillen, Keady, Camlough, Armoy, Dungannon, Markethill and Clogher. Given the restrictions we found ourselves in this year it was up to the market how they saw fit to distribute out the prize money.

Attracting good local support, the sales are always an excellent window of opportunity for commercial buyers to obtain Limousin cross cattle that are suitable for the current beef market. This year was no exception.

1st Prize 400kg 2100 (5.25p) sold by OKane Farm Ltd, Dunloy , Ballymena.

2nd Prize 350kg 1700 (4.85p) sold by Ian Lynn, Glenshesk Armoy.

3rd Prize 380kg 1820 (4.79p) - sold by Ian Lynn, Glenshesk Armoy.

1st Prize 270kg 900 (3.33p) sold by J Campbell, Ballyvaddy Road, Carnlough.

2nd Prize 210kg 700 (3.33p) sold by ST MACNISSIS College, Garron Tower.

3rd Prize 270kg 890 (3.29p) sold by J Campbell, Ballyvaddy Road, Carnlough

1st Prize 320kg 880 (2.75p) Sold by D Litter, Derrall Road, Portadown.

2nd Prize 260kg 700 (2.69p) Sold by D Litter, Derrall Road, Portadown.

1st Prize - 300kg 930 (3.10p) sold by N Hammond, Ballymaguire, Stewartstown.

2nd Prize 270kg 805 (2.98p) sold by N Hammond, Ballymaguire, Stewartstown.

1st Prize 318kg 1370 (4.30p) sold by Nigel Deens, Markethill

2nd Prize 340kg 1260 (3.71p) sold by J Rice , Armagh

1st Prize 244kg 770 (3.15p) sold by E McKeown, Crossmaglen

2nd Prize 284kg 880 (3.10p) sold by A Nugent , Keady

1st Prize 285kg 790 (2.77p) sold by Gabriel Emerson, Cushendall

2nd Prize 254kg 650 (2.56p) sold by Danny McBride, Ballycastle

1st Prize 230kg 720 (3.13p) sold by Gabriel Emerson, Cushendall

2nd Prize 210kg 650kg (3.10p) sold by Gabriel Emerson, Cushendall

1st Prize 308kg 1260 (4.09p) sold by Paul Faulkner

2nd Prize 356kg 1400 (3.93p) sold by Martin Diamond

1st Prize 282kg 930 (3.30p) sold by Paul Faulkner

2nd Prize - 452kg 1410 (3.12p) sold by Paul Faulkner

1st Prize 440kg 2250 (5.11p) sold by Darren McSorley, Omagh

2nd Prize 440kg 1900 (4.32p) Sold by Darren McSorley, Omagh

1st Prize 550kg 1250 (2.50p) sold by Ian Elliott, Enniskillen

2nd Prize 535kg 1100 (2.05p) sold by Jason Sawyers , Sixmilecross

1st Prize - 293.90 per 100 kilos sold by Alan Falloon, Armagh

2nd Prize - 282.60 per 100 kilos sold by P J McNally

1st Prize - 361.10 per 100 kilos sold by P J McNally

2nd Prize - 316.00 per 100 kilos sold by Joe Smith

1st Prize - 391.30 per 100 kilos sold by Kevin and Gerard McKee

2nd Prize - 314.80 per 100 kilos sold by Kevin and Gerard McKee

1st Prize -367.70 per 100 kilos sold by Thomas Nugent

2nd Prize 316.70 per 100 kilos sold by Kevin and Gerard McKee

1st Prize 326kg 1180 (3.62p) sold by Emmett Kelly, Augher, Co Tyrone

2nd Prize 392kg 1400 (3.57p) sold by Gordon Cutler, Florencecourt, Enniskillen

1st Prize 250kg 730 (2.92p) sold by Raymond McGovern, Derrylin

2nd Prize 270kg 740 (2.74p) sold by Raymond McGovern, Derrylin

Successful exhibitors were:

1st Prize Leo and Aaron Fearon

3rd Prize Leo and Aaron Fearon

The strength in the market for Limousin calves demonstrates how the breeds genetics continue to stand out within the sector.

The market demands fast finishing, efficient, low-cost cattle that produce carcases consistent in weight and quality.

It is a blueprint for the breed, one which it delivers extremely well and is the principle reason that buyers seek Limousin stock of all ages.

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Local Limousin calves are on the money at recent suckled calf sales - Farming Life

Recent reports suggest that both clinical and genetic risk factors may contribute to COVID-19 susceptibility and severity. Catherine Ball, Chief Scientific Officer of Ancestry, discusses results of the companys COVID-19 Research Study, designed to explore non-genetic and genetic associations with disease outcomes.

ONE OF THE more puzzling aspects of SARS-CoV-2, the causative agent of COVID-19, is that infection can produce a remarkably diverse spectrum of outcomes, ranging from asymptomatic to fatal. In the US, most infections result in mild illness that can be managed at home, yet about 14 percent of cases are hospitalised and approximately five percent are fatal.

Known risk factors for severe COVID-19, as identified by epidemiological studies, include common health conditions such as hypertension, diabetes and obesity as well as older age and male sex. For example, reports of higher susceptibility to and severity of SARS-CoV-2 infections in men could suggest important differences in immune response to the virus in men relative to women.

The growing toll of the COVID-19 pandemic has heightened the urgency of identifying those who are most at risk of infection and severe outcomes

Emerging evidence suggests that genetic variation may contribute to COVID-19 susceptibility and severity. An early genome-wide association study (GWAS) of COVID-19 cases with respiratory failure identified two genetic loci that achieved genome-wide significance: one signal on chromosome 9 near the ABO gene, which determines blood type, and one signal on chromosome 3 near a cluster of genes with known immune function.1 Both genetic signals were later replicated by meta-analyses conducted by the COVID-19 Host Genetics Initiative (HGI), which combines more than 30 individual GWAS. The HGI additionally identified novel associations on chromosome 6, near FOXP4; on chromosome 12, near a gene cluster encoding antiviral restriction enzyme activators; on chromosome 19 near TYK2; and on chromosome 21, near IFNAR2. Multiple studies have also reported evidence of rare-variant associations, though such discoveries have not yet successfully been replicated in independent cohorts.

The growing toll of the COVID-19 pandemic has heightened the urgency of identifying those who are most at risk of infection and severe outcomes; hence, the need for further investigation to assess patterns of susceptibility and severity in large datasets. The Ancestry COVID-19 Research Study, one of the largest studies of infection susceptibility and severity to date, was designed to:

To replicate and discover non-genetic and genetic associations with COVID-19 outcomes, we engaged AncestryDNA adult members in the US a majority of the 18 million individuals in our global network. On 22 April 2020, we issued a 54-question COVID-19 survey intended to assess exposure, risk factors, symptomatology and demographic information that had previously been identified as associated with COVID-19 susceptibility and severity. Within four weeks, more than 500,000 AncestryDNA customers from all 50 states who consented to participate in research responded, including more than 4,700 individuals with COVID-19, as measured by a selfreported positive nasal swab test. All data were de-identified prior to subsequent analyses.

Rates of hospitalisation calculated from the self-reported positive cases in the Ancestry data are consistent with characteristics seen in a CDC data analysis (10 percent of individuals reported hospitalisation in the Ancestry data compared to 14 percent in the CDC dataset). In addition, these data represent a unique view of the US population, including the range of symptoms experienced by those who tested positive for COVID-19 as well as those who have been exposed to SARSCoV-2 but have not experienced any symptoms. From these self-reported outcomes, we assessed susceptibility by comparing those who reported a positive COVID-19 nasal swab test result to those who reported a negative swab test result. We also looked at severity by comparing COVID-19 positive individuals who were hospitalised to COVID-19 positive individuals who were not hospitalised.

We observed significant associations between several risk factors and COVID-19 susceptibility and severity outcomes.2 Given the scale of our database, we were able to account for known exposures to COVID-19 to try to understand potential risk factors not explained by differences in exposures, which has not been accounted for in most other work. We found males were more likely than females to test positive for COVID-19 (odds ratio [OR]=1.36), even among people with the same known exposures to COVID-19 and age. This exposureadjusted result is novel and distinct from previous reports of elevated severity risk in males. Among those who tested positive for COVID-19, males (6.6 percent) were more likely than females (3.9 percent) to report progression to a critical case of the virus, consistent with CDC findings.

People aged 18-29 reported higher exposure to COVID-19 than all other age groups and were at a slightly elevated risk (OR=1.28) for positive diagnosis compared to those aged 50-64, even among people with the same exposure and sex. People aged 65 and older were significantly more likely to be hospitalised (OR=1.60) compared to those aged 50-64, even when accounting for differences in health conditions, obesity and biological sex.

We identified three novel loci indicating genetic associations with COVID-19 outcomes

AfricanAmericans were more likely to develop COVID-19 (OR=1.23) and were also significantly more likely to report progression to a critical case compared to those with European ancestry (OR=2.34), after accounting for health conditions, obesity, age and biological sex. We developed risk models to robustly predict individualised COVID-19 outcomes and were able to accurately predict an individuals susceptibility risk based on self-reported demographics, exposures and symptoms. We trained a peer-reviewed susceptibility model3 on our training cohort and found that our models perform slightly better (Ancestry area under a curve [AUC]=0.94, Litmodel AUC=0.90). We were also able to accurately predict an individuals severity risk based on selfreported demographics, preexisting conditions and symptoms. The severity risk models performed slightly better than previously reported clinical models despite not relying on clinical risk factors (eg, bloodwork), suggesting that selfreported data can be used to accurately assess risk of both susceptibility and severity in lieu of clinical data. We assessed the risk models across different age, sex and genetic ancestry cohorts and we can report reasonably high performance in all cohorts; highlighting the potential utility and generalisability of these models to the broader population. To our knowledge, the assessment by genetic ancestry is the first of its kind in the COVID-19 risk modelling literature.

To explore possible differences in biological response to COVID-19 infection, we analysed both susceptibility and severity outcomes using sex-stratified GWAS and sex-combined meta-analyses to identify genetic determinants associated with COVID-19 susceptibility and severity from more than 500,000 respondents reporting COVID-19 symptoms, outcomes, risk factors and exposures. These analyses included over 2,400 individuals with COVID-19 and 250 hospitalised cases in a cohort of European ancestry individuals.

Importantly, we identified three novel loci indicating genetic associations with COVID-19 outcomes.4 The strongest association was near IVNS1ABP, a gene involved in influenza virus replication, and it was only associated in males. It is unclear why this association is present only in males, though it may provide a clue as to why males appear to be at higher risk of COVID-19 infection, hospitalisation and mortality. We speculate that sex hormones or behavioural differences might trigger different cellular responses to COVID-19 infection in men and in women, and one such difference may involve differential expression of IVNS1ABP. The other two novel loci harbour genes with established roles in viral replication or immunity.

Our results add to a growing body of evidence that individual genetic variation contributes to both susceptibility to COVID-19 and severity of illness. These results also suggest that identification of these genetic risk factors could provide profound insight into why COVID-19 manifests differently in individuals, particularly in men.

This research highlights the value of selfreported epidemiological data at scale to provide public health insights into the evolving COVID-19 pandemic. Further, these survey responses, coupled with genomic data for over 500,000 individuals who have consented to research, provides Ancestry with the unique ability to quickly contribute to the global effort to better understand this disease. We are working to gain a deeper understanding of COVID-19 by investigating genomic and clinical components that influence how people contract and respond to the virus. We know that this information may be useful in the effort to develop treatments, preventatives or vaccines for the disease. In that spirit, we are making a subset of data from this study available to other qualified scientists through the European Genome-phenome Archive (EGA) to help inform their research.

Cathy Ball, PhD has served as Chief Scientific Officer for AncestryDNA, LLC since September 2016. She joined as Vice President of Genomics and Bioinformatics in 2011, helping to establish the companys approach to genetic genealogy leading to the launch of AncestryDNA. Cathy is a genomic scientist who has annotated and mined the genomes of various organisms and created resources to help clinicians, citizens and other scientists exploit and explore genome data. Cathy also led the Stanford Microarray Database, the largest academic database of its kind. She has presented seminars at leading universities and contributes to National Institutes of Health committees. She received a BS in Biology and a PhD in Molecular Biology from the University of California, Los Angeles. Cathy was a post-doctoral fellow at the University of California, Berkeley prior to her research in the Departments of Genetics and Biochemistry at Stanford University School of Medicine.

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Predicting COVID-19 susceptibility and severity - Drug Target Review

We know from history that traumatic experiences in childhood can have long-lasting effects, impacting both the physical body and our mental health. Research has shown that these stressful experiences in life can also impact the offspring of individuals whom have endured trauma.This contradicts some of the basic underpinnings of genetic hereditary. How can experiences in life affect our gametes the sperm and egg cells which pass on hereditary information through DNA to our offspring? Scientists are focusing on the role that the epigenome plays here.

The epigenome, which regulates gene activity by mechanisms which, put simply, involve "switching on" and "switching off" of genes, can be influenced by biological molecules.

A new study led by Professor Isabelle Mansuy at the University of Zurich's Brain Research Institute explored how circulating factors in the blood communicate with the embryonic precursors of gametes (germ cells) in both animal models and human participants.1Mansuy and colleagues focused their efforts on studying the biological impact of trauma. They found that traumatic experiences in early life cause changes in the blood composition namely metabolites that are passed on to the next generation.

Technology Networks spoke with Mansuy to learn more about the field of epigenetic inheritance, the specifics of the study and the possible impact these data may have on matters of public health.

Molly Campbell (MC): Your new study contributes to a research field known as epigenetic inheritance. For our readers that may be unfamiliar, can you please tell us more about this field of research, and its applications?Isabelle Mansuy (IM): This field of research studies a form of heredity that has hardly been studied before and that involves epigenetic factors. Heredity is classically known as depending on genetics, and our genetic code (or genome), which is transferred from parent to offspring through gametes (reproductive cells: oocyte and sperm cell). This is innate heredity, which is the inheritance of natural or intrinsic traits. But there is also acquired heredity, which is the inheritance of traits acquired during life upon exposure to the environment and life experiences. This form of inheritance depends on the epigenome, which are factors around the DNA sequence that regulate its activity. The applications are broad, and include a better understanding of diseases linked to the environment/experiences such as psychiatric disorders, autoimmune diseases, cardiovascular diseases, cancer, etc whose causes and mechanisms remain poorly known and which have no treatment.

MC: Epigenetic inheritance is a field that has been deemed "controversial" in the past. In your opinion, are attitudes towards the research area changing? IM: Yes, because people realize how fundamental it is, and how it can answer questions that have remained unsolved for a long time, like the complex diseases, the transmission of the effects of life experiences (diet, stress or endocrine disruptors). Also, there is now a lot more evidence for its existence. Many studies and reports now document epigenetic inheritance in various species.

MC: Why did you decide to focus on the effects of trauma specifically in your study?IM: We are neurobiologists interested in brain functions and in the mechanisms of brain diseases, in particular psychiatric disorders. The possibility that adverse experiences in childhood can alter mental and physical health later in life and affect future generations is an extremely important public health issue. It needs to be understood mechanistically to help patients, doctors and the society.

MC: Why did you hypothesize that blood metabolites (an example of circulating factors) carry signals induced by exposure to germ cells? What previous research supported this hypothesis?IM: The hypothesis stems from our observation that many cells and tissues are affected by trauma exposure in early life and that some of the changes are comparable across tissues, suggesting that there is a common inducing factor. It was logical to think of blood since it provides nutrient to all tissues and cells across the body. The fact that blood factors can communicate with germ cells was not known before, it was even deemed impossible mid-19th century by August Weissmann, purely based on a theory he put forward that the soma cannot communicate with the germline (the Weismann barrier). It relied, for instance, on the observation that if you cut the tail of a mouse at each generation, the offspring will never be born with a cut tail. This theory was erroneous from the start but somewhat blocked proper thinking for a long time.

MC: In mice, you found that exposure to trauma upregulated certain metabolic pathways, and that this upregulation was also detected in the male progeny of these mice in adulthood. Can you expand on the metabolic pathways that you analyzed and why, and what the key results were?IM: Some metabolites are up-regulated but others are down-regulated. We analysed all metabolites by mass spectrometry (unbiased method) and observed that lipid metabolism is perturbed with polyinsaturated fatty acids metabolites being increased. We also saw that glucose and insulin are dysregulated.

MC: You also assessed the relevance of these findings in a cohort of children, specifically children from an SOS Children's Village in Lahore, Pakistan. Can you discuss the choice of human sample used in this study? Why is it representative? Are there any potential limitations?IM: The Pakistani cohort was selected to resemble as much as possible our mouse model. The children were separated from their mother after their lost their husband (father). Our mouse model uses unpredictable maternal separation combined with unpredictable maternal stress. It is representative of a severe family trauma. The limitations are that it is a small cohort (25 SOS and 14 controls) however we have now expanded this sample and that we have blood samples from only one time point. Ideally, we would like to follow the children across time. A positive point though is that we have a small group of adult men who were in the SOS village when younger and who do show changes in blood (this data is not published).

MC: How did the results of the human analyses compare to the results you obtained in mice?IM: There are lots of similarities in symptoms of trauma e.g. depression, and in physiological parameters e.g. altered glycemia, dyslipidemia, decreased HDL, etc

MC: What can the data tell us about how trauma is altering metabolic pathways, and why this might be passed on to the next generation?IM: We do not know exactly how trauma alters metabolic pathways, but it is likely by perturbing liver, pancreas, the endocrine system, etc. The effects are systemic, and every tissue is affected. The effects of trauma are passed to the next generation (demonstrated in mice) because germ cells (here sperm) carry molecular alterations e.g. altered RNA populations, that are passed to the embryo upon fertilization with the oocyte.

MC: What clinical applications might this research have?IM: Perhaps the identification of a signature of trauma in blood, saliva and/or sperm which could help diagnostics and treatment monitoring.

MC: Finally, what are your next steps in this research space?IM: Identify the mechanisms responsible for changes in germ cells (male and female) and how these changes are perpetuated/maintained in the offspring.

Professor Isabelle Mansuy was speaking to Molly Campbell, Science Writer for Technology Networks.

Reference:

1. van Steenwyk G, Gapp K, Jawaid A, et al. Involvement of circulating factors in the transmission of paternal experiences through the germline. EMBO J.. 2020;39(23):e104579. doi:10.15252/embj.2020104579.

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Exploring the Biological Inheritance of Childhood Trauma - Technology Networks

The Conversation

The world is eagerly awaiting the release of several COVID-19 vaccines, but Brazilian President Jair Bolsonaro is not. Im not going to take it. Its my right, he said in a Nov. 26 social media broadcast. Bolsonaro, who came down with COVID-19 in July, has also criticized face masks. He and his more faithful supporters oppose any suggestion of mandatory coronavirus vaccinations. Vaccine resistance has a long history in Brazil. In November 1904, thousands of people in the city of Rio de Janeiro protested government-mandated smallpox vaccinations in a famous revolt that nearly ended with a coup. Making modern BrazilThe smallpox vaccine had arrived in Brazil almost a century earlier. But the syringes were long, left skin pockmarked and could transmit other diseases such as syphilis. Between 1898 and 1904, only 2% to 10% of Rios population was vaccinated yearly, according to historian Sidney Chalhoub. In 1904, smallpox killed 0.4% of Rio residents a higher percentage of the population than COVID-19s victims in New York City this year.But these were not the only reasons Brazil made vaccinations mandatory in 1904. As part of a modernization plan to attract European immigration and foreign investment, President Rodrigues Alves was committed to eradicating epidemics not just smallpox, but also yellow fever and the bubonic plague.To rid Rio de Janeiro, then the nations capital, of sanitary hazards while opening space for Parisian-style avenues and buildings, hundreds of tenements were demolished between 1903 and 1909. Almost 40,000 people mostly Afro-Brazilians but also poor Italian, Portuguese and Spanish immigrants were evicted and removed from downtown Rio. Many were left homeless, forced to resettle on nearby hillsides or in distant rural areas. Meanwhile, public health agents accompanied by armed police systematically disinfected homes with sulfur that destroyed furniture and other belongings whether residents welcomed them or not. Conspiracy and barricadesPoliticians and military officers who opposed President Alves saw opportunity in the outrage these health initiatives caused. They stoked discontent.With the help of labor organizers and news editors, Alves opponents led a campaign against Brazils public health mandates throughout 1904. Newspapers reported on violent home disinfections and forced vaccinations. Senators and other public figures declared that mandatory vaccinations encroached on peoples homes and bodies.In mid-November of that year, thousands of protesters gathered in public squares to rally against public health efforts. Rio police reacted with disproportionate force, triggering six days of unrest in the city. A racially diverse crowd of students, construction workers, port workers and other residents fought back, armed with rocks, housewares or the tools of their trade, flipping over streetcars to barricade the streets. Meanwhile, behind the scenes, conspirators were mobilizing young military cadets. Their plan: to overthrow Alves government. Their scheme was foiled when the president called upon both the Army and the Navy to contain protesters and detain alleged insurgents. Brazils great vaccine revolt was soon suppressed. The language of rightsAfterward, newspapers portrayed protesters as an ignorant mass, manipulated by cunning politicians. They deemed one of the uprisings popular leaders, Horcio Jos da Silva known as Black Silver a disorderly thug.But Brazils vaccine revolt was more than a cynical political manipulation. Digging into archives, historians like me are learning what really motivated the uprising.The violent and segregationist features of Alves urban plan are one obvious answer. In early 20th-century Brazil, most people women, those who couldnt read, the unemployed couldnt vote. For these Brazilians, the streets were the only place to have their voices heard.But why would they so virulently oppose methods that controlled the spread of disease?Delving into newspapers and legal records, I have found that critics of Brazils 1904 public health drive often expressed their opposition in terms of inviolability of the home, both on the streets and in courts.For elite Brazilians, invoking this constitutional right was about protecting the privacy of their households, where men ruled over wives, children and servants. Public health agents threatened this patriarchal authority by demanding access to homes and womens bodies.Poor men and women in Rio also held patriarchal values. But for them there was more than privacy at stake in 1904. Throughout the 19th century, enslaved Afro-Brazilians had formed families and built homes, even on plantations, carving out spaces of relative freedom from their masters. After slavery was abolished in 1888, many freed Afro-Brazilians shared crowded tenements with immigrants. By the time of Alvess vaccination drive, the poor of Rio had been fighting eviction and police violence for decades. For Black Brazilians, then, defending their rights to choose what to do or not to do with their homes and bodies was part of a much longer struggle for social, economic and political inclusion. Deadly learning experienceFour years after the 1904 revolt, Rio was struck by another smallpox epidemic. With so many people unvaccinated, deaths doubled; almost 1% of the city perished.[Deep knowledge, daily. Sign up for The Conversations newsletter.]It was a deadly learning experience. From then on, Brazilian leaders framed mandatory smallpox, measles and other vaccines as a means to protect the common good, and invested in educational campaigns to explain why. Throughout the 20th century, vaccinations were extremely successful in Brazil. Since the 1990s, 95% of children have been vaccinated, though the numbers are dropping.Today, Brazil is one of the countries hardest hit by the coronavirus pandemic. As in the past, Afro-Brazilians are hurting more than others.By invoking Brazilians individual right not to get vaccinated against COVID-19, President Bolsonaro is ignoring the lessons of 1904 undermining a century of hard work fighting disease in Brazil.This article is republished from The Conversation, a nonprofit news site dedicated to sharing ideas from academic experts. It was written by: Pedro Cantisano, University of Nebraska Omaha.Read more: * COVID-19 is deadlier for black Brazilians, a legacy of structural racism that dates back toslavery * In Brazils raging pandemic, domestic workers fear for their lives and theirjobsPedro Cantisano does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.

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Man caught breaking into Tom Brady and Gisele Bndchen's Massachusetts mansion - Yahoo News

Following a frustrating year plagued by transport restrictions caused by Covid-19 and tilapia lake virus, Til-Aquarecently decided to branch out from selling live tilapia fry a move that has netted them the first of a new breed of deal this week.

Like many other companies, we are currently confronted with transport issues limited available flights and closed borders due to the coronavirus. The import restrictions that some countries have imposed regarding the tilapia lake virus had already severely limited our current operations. As a result, we decided to change course drastically so as not to lose 25 years of genetic effort: we have put our genetics for sale to interested parties, explains Eric Bink, director of the Dutch firm.

Til-Aquas first deal in the new era has been signed with Gardsfisk, a fast-growing tilapia producer in Sweden. According to Bink, they will need about 3 million tilapia fingerlings for their own company and partners net year, which would make it a very significant deal by European standards.

They will start producing NMT soon and in a few months also YY production. There are several other YY genetic centres to be set up soon (Saudi Arabia, Algeria, Morocco, US, Tanzania) and we are now in advanced negotiations for transferring the YY technology to various parties worldwide, adds Bink.

Despite the radical shift, Bink's plans appear to have been validated.

We believe that transferring our YY technology to countries for local YY production is the best option. These parties would own YY-males and YY-females and would receive the information on how to maintain these lines. With these fish, they can produce their own YY-males; the broodstock that produces NMT [natural male tilapia] offspring. These YY-males can be both used for your own NMT production and distributed to interested parties. [our own] NMT production has since stopped. We will be able to supply our YY-males until the end of December 2020, he adds.

Excerpt from:
The pivot that's helping a tilapia producer cope with covid restrictions - The Fish Site

The Conversation

The world is eagerly awaiting the release of several COVID-19 vaccines, but Brazilian President Jair Bolsonaro is not. Im not going to take it. Its my right, he said in a Nov. 26 social media broadcast. Bolsonaro, who came down with COVID-19 in July, has also criticized face masks. He and his more faithful supporters oppose any suggestion of mandatory coronavirus vaccinations. Vaccine resistance has a long history in Brazil. In November 1904, thousands of people in the city of Rio de Janeiro protested government-mandated smallpox vaccinations in a famous revolt that nearly ended with a coup. Making modern BrazilThe smallpox vaccine had arrived in Brazil almost a century earlier. But the syringes were long, left skin pockmarked and could transmit other diseases such as syphilis. Between 1898 and 1904, only 2% to 10% of Rios population was vaccinated yearly, according to historian Sidney Chalhoub. In 1904, smallpox killed 0.4% of Rio residents a higher percentage of the population than COVID-19s victims in New York City this year.But these were not the only reasons Brazil made vaccinations mandatory in 1904. As part of a modernization plan to attract European immigration and foreign investment, President Rodrigues Alves was committed to eradicating epidemics not just smallpox, but also yellow fever and the bubonic plague.To rid Rio de Janeiro, then the nations capital, of sanitary hazards while opening space for Parisian-style avenues and buildings, hundreds of tenements were demolished between 1903 and 1909. Almost 40,000 people mostly Afro-Brazilians but also poor Italian, Portuguese and Spanish immigrants were evicted and removed from downtown Rio. Many were left homeless, forced to resettle on nearby hillsides or in distant rural areas. Meanwhile, public health agents accompanied by armed police systematically disinfected homes with sulfur that destroyed furniture and other belongings whether residents welcomed them or not. Conspiracy and barricadesPoliticians and military officers who opposed President Alves saw opportunity in the outrage these health initiatives caused. They stoked discontent.With the help of labor organizers and news editors, Alves opponents led a campaign against Brazils public health mandates throughout 1904. Newspapers reported on violent home disinfections and forced vaccinations. Senators and other public figures declared that mandatory vaccinations encroached on peoples homes and bodies.In mid-November of that year, thousands of protesters gathered in public squares to rally against public health efforts. Rio police reacted with disproportionate force, triggering six days of unrest in the city. A racially diverse crowd of students, construction workers, port workers and other residents fought back, armed with rocks, housewares or the tools of their trade, flipping over streetcars to barricade the streets. Meanwhile, behind the scenes, conspirators were mobilizing young military cadets. Their plan: to overthrow Alves government. Their scheme was foiled when the president called upon both the Army and the Navy to contain protesters and detain alleged insurgents. Brazils great vaccine revolt was soon suppressed. The language of rightsAfterward, newspapers portrayed protesters as an ignorant mass, manipulated by cunning politicians. They deemed one of the uprisings popular leaders, Horcio Jos da Silva known as Black Silver a disorderly thug.But Brazils vaccine revolt was more than a cynical political manipulation. Digging into archives, historians like me are learning what really motivated the uprising.The violent and segregationist features of Alves urban plan are one obvious answer. In early 20th-century Brazil, most people women, those who couldnt read, the unemployed couldnt vote. For these Brazilians, the streets were the only place to have their voices heard.But why would they so virulently oppose methods that controlled the spread of disease?Delving into newspapers and legal records, I have found that critics of Brazils 1904 public health drive often expressed their opposition in terms of inviolability of the home, both on the streets and in courts.For elite Brazilians, invoking this constitutional right was about protecting the privacy of their households, where men ruled over wives, children and servants. Public health agents threatened this patriarchal authority by demanding access to homes and womens bodies.Poor men and women in Rio also held patriarchal values. But for them there was more than privacy at stake in 1904. Throughout the 19th century, enslaved Afro-Brazilians had formed families and built homes, even on plantations, carving out spaces of relative freedom from their masters. After slavery was abolished in 1888, many freed Afro-Brazilians shared crowded tenements with immigrants. By the time of Alvess vaccination drive, the poor of Rio had been fighting eviction and police violence for decades. For Black Brazilians, then, defending their rights to choose what to do or not to do with their homes and bodies was part of a much longer struggle for social, economic and political inclusion. Deadly learning experienceFour years after the 1904 revolt, Rio was struck by another smallpox epidemic. With so many people unvaccinated, deaths doubled; almost 1% of the city perished.[Deep knowledge, daily. Sign up for The Conversations newsletter.]It was a deadly learning experience. From then on, Brazilian leaders framed mandatory smallpox, measles and other vaccines as a means to protect the common good, and invested in educational campaigns to explain why. Throughout the 20th century, vaccinations were extremely successful in Brazil. Since the 1990s, 95% of children have been vaccinated, though the numbers are dropping.Today, Brazil is one of the countries hardest hit by the coronavirus pandemic. As in the past, Afro-Brazilians are hurting more than others.By invoking Brazilians individual right not to get vaccinated against COVID-19, President Bolsonaro is ignoring the lessons of 1904 undermining a century of hard work fighting disease in Brazil.This article is republished from The Conversation, a nonprofit news site dedicated to sharing ideas from academic experts. It was written by: Pedro Cantisano, University of Nebraska Omaha.Read more: * COVID-19 is deadlier for black Brazilians, a legacy of structural racism that dates back toslavery * In Brazils raging pandemic, domestic workers fear for their lives and theirjobsPedro Cantisano does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.

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Man Killed In Hudson Stabbing Identified As New Brighton Man; 2 Persons Of Interest Arrested In Minnesota - Yahoo News

The Conversation

The world is eagerly awaiting the release of several COVID-19 vaccines, but Brazilian President Jair Bolsonaro is not. Im not going to take it. Its my right, he said in a Nov. 26 social media broadcast. Bolsonaro, who came down with COVID-19 in July, has also criticized face masks. He and his more faithful supporters oppose any suggestion of mandatory coronavirus vaccinations. Vaccine resistance has a long history in Brazil. In November 1904, thousands of people in the city of Rio de Janeiro protested government-mandated smallpox vaccinations in a famous revolt that nearly ended with a coup. Making modern BrazilThe smallpox vaccine had arrived in Brazil almost a century earlier. But the syringes were long, left skin pockmarked and could transmit other diseases such as syphilis. Between 1898 and 1904, only 2% to 10% of Rios population was vaccinated yearly, according to historian Sidney Chalhoub. In 1904, smallpox killed 0.4% of Rio residents a higher percentage of the population than COVID-19s victims in New York City this year.But these were not the only reasons Brazil made vaccinations mandatory in 1904. As part of a modernization plan to attract European immigration and foreign investment, President Rodrigues Alves was committed to eradicating epidemics not just smallpox, but also yellow fever and the bubonic plague.To rid Rio de Janeiro, then the nations capital, of sanitary hazards while opening space for Parisian-style avenues and buildings, hundreds of tenements were demolished between 1903 and 1909. Almost 40,000 people mostly Afro-Brazilians but also poor Italian, Portuguese and Spanish immigrants were evicted and removed from downtown Rio. Many were left homeless, forced to resettle on nearby hillsides or in distant rural areas. Meanwhile, public health agents accompanied by armed police systematically disinfected homes with sulfur that destroyed furniture and other belongings whether residents welcomed them or not. Conspiracy and barricadesPoliticians and military officers who opposed President Alves saw opportunity in the outrage these health initiatives caused. They stoked discontent.With the help of labor organizers and news editors, Alves opponents led a campaign against Brazils public health mandates throughout 1904. Newspapers reported on violent home disinfections and forced vaccinations. Senators and other public figures declared that mandatory vaccinations encroached on peoples homes and bodies.In mid-November of that year, thousands of protesters gathered in public squares to rally against public health efforts. Rio police reacted with disproportionate force, triggering six days of unrest in the city. A racially diverse crowd of students, construction workers, port workers and other residents fought back, armed with rocks, housewares or the tools of their trade, flipping over streetcars to barricade the streets. Meanwhile, behind the scenes, conspirators were mobilizing young military cadets. Their plan: to overthrow Alves government. Their scheme was foiled when the president called upon both the Army and the Navy to contain protesters and detain alleged insurgents. Brazils great vaccine revolt was soon suppressed. The language of rightsAfterward, newspapers portrayed protesters as an ignorant mass, manipulated by cunning politicians. They deemed one of the uprisings popular leaders, Horcio Jos da Silva known as Black Silver a disorderly thug.But Brazils vaccine revolt was more than a cynical political manipulation. Digging into archives, historians like me are learning what really motivated the uprising.The violent and segregationist features of Alves urban plan are one obvious answer. In early 20th-century Brazil, most people women, those who couldnt read, the unemployed couldnt vote. For these Brazilians, the streets were the only place to have their voices heard.But why would they so virulently oppose methods that controlled the spread of disease?Delving into newspapers and legal records, I have found that critics of Brazils 1904 public health drive often expressed their opposition in terms of inviolability of the home, both on the streets and in courts.For elite Brazilians, invoking this constitutional right was about protecting the privacy of their households, where men ruled over wives, children and servants. Public health agents threatened this patriarchal authority by demanding access to homes and womens bodies.Poor men and women in Rio also held patriarchal values. But for them there was more than privacy at stake in 1904. Throughout the 19th century, enslaved Afro-Brazilians had formed families and built homes, even on plantations, carving out spaces of relative freedom from their masters. After slavery was abolished in 1888, many freed Afro-Brazilians shared crowded tenements with immigrants. By the time of Alvess vaccination drive, the poor of Rio had been fighting eviction and police violence for decades. For Black Brazilians, then, defending their rights to choose what to do or not to do with their homes and bodies was part of a much longer struggle for social, economic and political inclusion. Deadly learning experienceFour years after the 1904 revolt, Rio was struck by another smallpox epidemic. With so many people unvaccinated, deaths doubled; almost 1% of the city perished.[Deep knowledge, daily. Sign up for The Conversations newsletter.]It was a deadly learning experience. From then on, Brazilian leaders framed mandatory smallpox, measles and other vaccines as a means to protect the common good, and invested in educational campaigns to explain why. Throughout the 20th century, vaccinations were extremely successful in Brazil. Since the 1990s, 95% of children have been vaccinated, though the numbers are dropping.Today, Brazil is one of the countries hardest hit by the coronavirus pandemic. As in the past, Afro-Brazilians are hurting more than others.By invoking Brazilians individual right not to get vaccinated against COVID-19, President Bolsonaro is ignoring the lessons of 1904 undermining a century of hard work fighting disease in Brazil.This article is republished from The Conversation, a nonprofit news site dedicated to sharing ideas from academic experts. It was written by: Pedro Cantisano, University of Nebraska Omaha.Read more: * COVID-19 is deadlier for black Brazilians, a legacy of structural racism that dates back toslavery * In Brazils raging pandemic, domestic workers fear for their lives and theirjobsPedro Cantisano does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.

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Something Good: Local Man Celebrates The Holidays And The Steelers - Yahoo News

Employing a strategy known as population modification, which involves using a CRISPR-Cas9 gene drive system to introduce genes preventing parasite transmission into mosquito chromosomes, University of California researchers have made a major advance in the use of genetic technologies to control the transmission of malaria parasites.

University of California, Irvine postdoctoral researcher Adriana Adolfi, in collaboration with colleagues at UC Irvine, UC Berkeley and UC San Diego, followed up on the groups pioneering effort to develop CRISPR-based gene drive systems for making mosquito vectors resistant to transmitting malaria parasites by increasing gene drive effectiveness in female mosquito progeny.

This work mitigates a big issue with the first gene drive systems, which is the accumulation of drive-resistant mosquitoes that could still transmit malaria parasites, said UC Irvine vector biologist Anthony James, the Donald Bren Professor of Microbiology & Molecular Genetics and Molecular Biology & Biochemistry, who was a co-primary investigator on the study.

The second-generation gene drive system described in this paper can be applied to any of the several thousand genes that are essential for insects tosurviveor reproduce, said UC San Diego Distinguished Professor Ethan Bier, a co-author of the study and science director at theTata Institute for Genetics and Society. While it was developed in fruit flies, this system is readily transportable to a broad selection of insect species that serve as vectors for devastating disorders such as Chagas disease, sleeping disease, leishmaniasis andarboviraldiseases.

Study resultsappear inNature Communications. Theydescribe a highly efficient second-generation version of the teams original gene drive, developed for the Indo-Pakistani malaria vector mosquitoAnopheles stephensi. The 2015 work, published inProceedings of the National Academy of Sciences,wasthe first demonstration of a CRISPR-based gene drive in mosquitoes.

In that first study, the gene drive was transmitted to about 99 percent of progeny when the parent in which the gene drive was inserted was a male but only 60 to 70 percent of offspring when the parent in which the gene drive was inserted was a female. A significant number of drive-resistant chromosomes are generated in females; this, in principle, could allow those females to continue to transmit parasites.

Adolfi, lead author of the new study, and collaborators solved the failure to drive efficiently through females by equipping the gene drive with a functional copy of the target gene into which the drive is inserted. Normal function of this target gene is required in this mosquito species for female survival and fertility after she feeds on blood, and its functionality is usually disrupted when the drive system is inserted into the gene.

The resulting female mosquitoes showed strong and consistent drive in a population cage study and negligible production of drive-resistant chromosomes. This strategy of inserting a gene drive into a gene essential for viability or fertility and at the same time including a functional gene that rescues the loss of viability or fertility provides a general solution to drive resistance through females. Also, as with a catalytic converter removing combustion pollution from automobiles, the new system efficiently eliminates genetic errors made in the drive process.

This gene drive system in combination with genes for blocking parasite transmission can now be used to design field-ready strains of mosquitoes. Thorough testing is required to demonstrate safety and efficacy before advancing to field testing.

Nijole Jasinskiene, Hsu-Feng Lee, Arunachalam Ramaiah, J.J. Emerson and Kristy Hwang of UC Irvine; Valentino Gantz, Gerard Terradas and Emily Bulger of UC San Diego; and Jared Bennett and John Marshall of UC Berkeley also participated in the study, which resulted from collaborations between the UC IrvineMalaria Initiative and the UC San Diego Tata Institute for Genetics and Society.

Research support was provided by the Tata Institute for Genetics and Society, the UC Irvine Malaria Initiative,the National Institutes of Health (AI29746,DP5OD023098 andGM123303)and the DARPA Safe Genes program (HR0011-17-2-0047).

Continued here:
UC researchers pioneer more effective method of blocking malaria transmission in mosquitoes - University of California

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Novel compound heterozygous mutation in WEE2 is associated with fertilization failure: case report of an infertile woman and literature review - BMC...

One researcher is in Texas. One is in Nebraska. Together, they are striving to launch the hybridized wheat industry.

Lush green plots of hybridized wheat are dotted with people walking through them

Hybridization is the cross breeding of two genetically different varieties or species. And much like what has been accomplished in cotton and corn, hybridizing wheat is expected to improve the crops strength and health and ability to feed a rapidly growing population.

Amir Ibrahim, Ph.D., Texas A&M AgriLife Research wheat breeder in Texas A&Ms Department of Soil and Crop Sciences, Bryan-College Station, has spent the past seven years studying the hybridization of wheat in a partnership with Stephen Baenziger, Ph.D., University of Nebraska-Lincoln small grains breeder.

Ibrahim and Baenziger jointly have tested more than 600 lines of hybrid wheat varieties in Nebraska and Texas, and are now developing the necessary knowledge base, germplasm and enhanced trait pools or patterns from these lines to support the development of hybridized wheat.

Plant breeding partnerships grant

The teams newest project, Plant breeding partnerships: Continuing to develop and validate the tools for hybrid wheat, is supported by a $650,000 U.S. Department of Agriculture National Institute of Food and Agriculture grant.

Together our project team has made great strides toward developing tools to foster hybrid wheat development to maximize wheat yield potential, Baenziger said. This project is expected to help create the scientific and germplasm foundations for successfully launching a U.S. hybrid wheat industry.

Using an integrated approach involving in-house germplasm, chemical hybridizing agents, breeding, phenotyping, genomic selection and quantitative trait loci mapping, the collaborations objectives are to:

Validate increased function from previously made and predicted wheat hybrids in replicated trials.

Continue male and female parent line evaluation for characteristics needed to develop experimental and commercial wheat hybrids in a cost-efficient manner.

Develop those groups showing enhanced traits or patterns and test multiple mating designs for wheat hybrids.

Continue cytoplasmic male sterility line development and identify and validate restorer genes for wheat hybrids.

Ibrahim explained hybrid crops have increased vigor over the two parents in yield and other traits. In hybrids, the female parent does not produce viable pollen, but is used as a seed plant. The male parent has the role of pollinator. Together they have the capacity to combine and express hybrid vigor.

For wheat, past conventional breeding efforts increased hybrid vigor about 10%, but Ibrahim said they want to raise that figure to 15%-20% to make it attractive to producers.

We believe hybrid wheat, which is more climate resilient than pure-line wheat, can contribute to achieving this goal, he said.

Also participating in this latest project are Vikas Belamkar, Ph.D., University of Nebraska geneticist and plant breeder; Bhoja Basnet, Ph.D., International Maize and Wheat Improvement Center, or CIMMYT, hybrid wheat breeder, El Batan, Mexico; and Jochen Reif, Ph.D., Leibniz Institute of Plant Genetics and Crop Plant Science department head, Gatersleben, Germany.

The science needed for cost-effective adoption

Anil Adhikari, Ph.D., a Texas A&M doctoral student who is now at the University of Wisconsin, said for commercial success of hybrid wheat, a cost-effective hybrid seed production method is required. Adhikari worked extensively with Ibrahim on the genetic side of hybridization.

Hybrid seed production based on cytoplasmic male sterility is only feasible if the male lines have fertility-restoring genes, Adhikari said. These genes override the cytoplasmic male sterility in the hybrid seed and make the seeds fertile.

In his study, fertility-restoring genes in a promising restoration source were mapped using linkage mapping approach in a population of 300 recombinant inbred lines. Three consistent major quantitative trait loci, or QTLs,were mapped explaining 18%-40% phenotypic variance. KASP markers were developed using flanking markers of these QTLs.

The KASP markers from this study can be used for characterizing fertility-restoring gene sources and transferring them to male parents in the hybrid breeding program. In addition, the identified candidate genes can serve as a guide to fine map and clone these fertility-restoring genes.

To meet population and food projections, the improvement in wheat productivity needs to be between 1.4% and 1.6% per year. Currently, the productivity increase is about 1% or less.

The researchers say we now have effective chemical hybridizing agents to make experimental hybrids, have identified lines with good traits to facilitate cross-pollination, genomic tools for predicting hybrid vigor, statistical approaches for better estimates of hybrid yield in large experiments, and genomic tools for better use of cytoplasmic male sterile systems.

Hybrid wheat appears to be more stable than conventional wheat under stresses, a trait that is growing in importance, Ibrahim said. Also, he knows the research spin-offs from these efforts may have far-reaching improvements for his and other wheat breeders conventional pure-line breeding.

We know hybrid wheat will still take time but based on these tools we have been working with and the results we are seeing, we believe its time has come, Ibrahim said.

More:
Hybridized wheat: 7 years in the making | Crops | hpj.com - High Plains Journal

Archaeologists have discovered the rare burial of a young child who was laid to rest 8,000 years ago without arm and leg bones, a new study finds.

The child, who was no older than 8, was buried on what is now Alor Island, Indonesia. During the burial ceremony, the long bones in the child's arms and legs were removed and disposed elsewhere, and part of the child's face was painted with red ochre, a pigment often used in burials across the ancient world.

"Ochre pigment was applied to the cheeks and forehead and an ochre-colored cobblestone was placed under the child's head when they were buried," study lead researcher Sofia Samper Carro, a lecturer of archaeology at Australian National University in Canberra, said in a statement.

Related: 8,000-year-old heads on stakes found in mysterious underwater grave

This isn't the only burial from this region with missing arm and leg bones. "The lack of long bones is a practice that has been documented in several other burials from a similar time period in Java, Borneo and Flores, but this is the first time we have seen it in a child's burial," Samper Carro said. "We don't know why long bone removal was practiced, but it's likely some aspect of the belief system of the people who lived at this time."

Archaeologists don't know whether the child was male or female, but an analysis of their teeth and skeleton suggests the youngster likely died between the ages of 4 and 8. However, the dental analysis suggests that the child was slightly older (6 to 8 years old), while the skeleton was so small, it looked like it belonged to a 4 to 5 year old, indicating that the child's growth may have been stunted by genetic or environmental factors.

"We want to do some further paleo-health research to find out if this smaller skeleton is related to diet or the environment or possibly to being genetically isolated on an island," Samper Carro said, referring to the idea that some species shrink when they live on an isolated island, such as the extinct dwarf elephants that used to live in Flores.

Granted, ancient adult skulls found on Alor are also small. And if genetics don't explain their short stature, it's possible nutrition played some role, Samper Carro said. "These hunter-gatherers had a mainly marine diet and there is evidence to suggest protein saturation from a single food source can cause symptoms of malnourishment, which affects growth," she said. "However, they could have been eating other terrestrial resources, such as tubers."

Whatever the researchers learn will shed light on this region's cultural practices during the early mid-Holocene epoch, which began at the end of the last ice age about 11,500 years ago. "Child burials are very rare, and this complete burial is the only one from this time period," Carro said.

Child burials become more common in the archaeological record starting about 3,000 years ago, she said. "But, with nothing from the early Holocene period, we just don't know how people of this era treated their dead children. This find will change that."

The study was published online Oct. 28 in the journal Quaternary International.

Originally published on Live Science.

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Rare ancient burial contains child whose arms and legs were removed - Livescience.com

A recent study published in the Journal of Hypertension indicates that there is a direct association between social ties and risk of hypertension in women. The longitudinal study including more than 28,000 people between the ages of 45 and 85 years found that women with a small social circle and limited social participation (less than two social activities in a month) are more likely to get hypertension than women who had better or more social interactions. Hypertension risk was also found to be higher in widowed women than married women.

Hypertension (high blood pressure) is assumed to be more prevalent in the male population. However, experts suggest that it affects both the genders equally. In fact, after a certain age, women are more prone to the condition than men and the former have several very unique risk factors for high blood pressure both in the pre and post-menopausal age.

Unique risk factors

According to the American Heart Association, high blood pressure is not directly related to gender. However, pregnancy, menopause and use of birth control pills are some unique factors that put women at a higher risk of hypertension.

Research suggests that women who smoke, have a genetic predisposition to hypertension or are overweight are highly likely to have high blood pressure on regular use of birth control pills.

Similarly, pregnant women often experience high blood pressure. If you have had a history of hypertension, you may have to consult your doctor before trying to conceive since high blood pressure can harm both the baby and the mother.

Gestational hypertension develops after 20 weeks of pregnancy; you may develop this type of hypertension even if you never had the condition before. And then there is pre-eclampsia, a pregnancy complication wherein the woman has high blood pressure and limb swelling and protein in urine. Pre-eclampsia can be life-threatening for the mother and preterm delivery is the only way to resolve it.

Finally, after menopause, when the estrogen levels drop, a womans chances of developing hypertension increases significantly. Studies suggest that a combination of various factors including individual genetics, body mass index (BMI) and increased sympathetic nervous system activity are responsible for this spike in risk. The sympathetic nervous system is responsible for the flight and fight response. It increases blood pressure, decreases intestinal motility and accelerates heart rate.

Difference in symptoms

As per the European Society of Cardiology, hypertensive women experience more arterial stiffness, atrial fibrillation and heart failure in older age than hypertensive men. Since they have a smaller diameter of arteries, aneurysms in women rupture at a much smaller size than in men.

Hypertension is said to be a silent killer. Usually, it does not show any symptoms unless there is organ damage. However, in some young and middle-aged women, the condition can also be symptomatic. Such women report some of the following symptoms:

A lot of these symptoms are associated with stress or menopause. Experts suggest that if you notice these symptoms, it is best to consult a doctor, especially if you have a family history of hypertension.

For more information, read our article on High blood pressure.

Health articles on News18 are written by myUpchar.com, Indias first and biggest resource for verified medical information. At myUpchar, researchers and journalists work with doctors to bring you information on all things health.

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Hypertension in Women: How the Symptoms and Risk Factors Vary - News18

Facial hair, like scalp hair, grows in stages and understanding it may help you maximize your beard-growing potential.

A full beard can take 2 to 4 months to grow, as facial hair tends to grow between 0.3 and 0.5 millimeters (mm) every 24 hours. This works out to between one third and one half an inch per month.

Many factors can affect the growth of your beard, but there are some lifestyle strategies you can try to enhance your beard growth. Read on to learn more about what influences beard growth and if it can be influenced.

Once you stop shaving, you can expect facial hair to grow in stages. Hair may grow fuller and faster in certain areas, especially at first. Be patient, though, as this is a normal growth pattern for most guys.

Your ethnicity, age, genetics, and hormones not to mention various medical conditions can all affect whether your beard comes in faster or slower, or in all the places you desire.

If your beard seems to be taking a long time to grow in, one of the following factors may be at play.

You may remember guys in high school who seemed to have a full beard before they got their drivers license. Theyre the exception, not the rule.

Typically, full beard growth is possible starting at around age 18, but for many men, that time may not arrive until theyre 30. So, if youre not getting the beard growth you want, it may be because its not your time.

Certain ethnic groups tend to be more hirsute than others. Chinese men, for example, generally have less facial hair than white men, and men of Mediterranean descent generally have thicker beards.

Beyond your ethnic origins, your direct family traits have much to do with whether you can grow a full beard. Likewise, your genetics also determine the texture of your hair, your likelihood of going bald, and so forth.

For clues about your beards future, look to your male relatives. While theres no guarantee that a dad with a full beard will have a son who can pull off the same thing, hair patterns do tend to be hereditary.

Low levels of testosterone can make it more difficult to grow a beard. Talk with your doctor about taking supplements or trying testosterone therapy to help combat low testosterone.

If you want to grow your beard faster, there are a few strategies worth trying. Understand, however, that these tips may not work for everyone.

For general health, its recommended you have a balanced diet that includes fruits, vegetables, whole grains, and lean proteins, while avoiding processed food and added sugars.

For healthy hair growth, some key nutrients should have a place in your diet, including:

Too much stress and too little sleep can cause countless health problems, not to mention affect your beard growth.

Aim for 7 to 8 hours of sleep each night, and try strategies such as meditation or deep-breathing techniques to help de-stress.

Its not uncommon for guys to have thicker hair around their mouths and parts of their sideburns but a little less on their cheeks.

One way to help mask thinner (or zero) growth in those spots is to let the hair around them grow longer. You can hide those sparse spots a little with longer beard hair nearby.

Hair growth, whether its on your scalp or your face, is subject to many changes in your health.

Underlying medical conditions such as alopecia barbae or alopecia areata can cause hair loss from your beard or make it harder to grow a beard that isnt patchy or thin in places.

Alopecia areata is the more common condition. It occurs when the bodys immune system mistakenly attacks healthy hair follicles. When beard alopecia areata develops, men are usually middle-aged and hair loss is typically along the jawline.

Unusual conditions, such as prolactinoma a noncancerous tumor of the pituitary gland can also result in thin or missing facial hair.

Conversely, a noncancerous birthmark called Beckers nevus can sometimes cause excessive, coarse hair to form at the site of the birthmark.

The time it takes to grow a beard not to mention the look of the final product varies from person to person.

If youre trying to grow a full beard, plan on waiting a couple of months before you reach your goal. That means being patient and watching for signs of medical conditions that may affect your beard growth.

If youre concerned about a lack of beard growth, talk with your doctor or a dermatologist.

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How Long Does It Take to Grow a Beard? Tips, Genetics, and More - Healthline

The latestrelease from Database of WM Research, The Global Male Breast Cancer Market opportunities and current market scenario, providing insights and updates about the corresponding segments like Male Breast Cancers MarketSize, Share, Growth, Manufacturers, Regions, Type, and Application, Forecast to 2027.The report provides detailed assessment of key market dynamics and comprehensive information about the structure of theMale Breast Cancer industry. This market study contains exclusive insights into how the globalMale Breast Cancer market is predicted to grow during the forecast period.

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Market Attributes

Details

Market size value in 2020

USDXX Million

Revenue forecast in 2027

USDXX Million

Growth Rate

CAGR of XX % from 2020 to 2027

Base year for estimation

2019

Historical data

2016 2019

Forecast period

2020 2027

Report coverage

Revenue Forecast, Company Ranking, Competitive Landscape, Growth Factors, And Trends

Country scope

U.S., Canada, Mexico, U.K., Germany, France, Italy, China, India, Japan, Brazil, Argentina, Saudi Arabia, South Africa

Key companies profiled

Pfizer, Roche, GlaxoSmithKline, Sanofi, Novartis, Bayer, Bristol-Myers Squibb, Eli Lilly, AstraZeneca, Teva Pharmaceutical, Sun Pharmaceutical, BioNumerik Pharmaceuticals, Seattle Genetics, Accord Healthcare Customization Available

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Strategic and COVID-19 Analysis of Male Breast Cancer Market with Profiles like- Pfizer, Roche, GlaxoSmithKline, Sanofi, Novartis - re:Jerusalem

The Global Male Breast Cancer Treatment market research report comprises the description of allmajor aspects concerning the Male Breast Cancer Treatment market. It provides thehelpful information that focuses on the key aspects and features linked to the market current and forecast growth trends, and clarify it with the help of appropriate statistics. The global market research report also includes the in-depth information regarding the leading market. Competing with one another as well as developing industries in terms of value, the volume of sales, demand, and quality of products and services.

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Impact of COVID-19:

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The major players profiled in this report include

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Male Breast Cancer Treatment Market Analysis -Worldwide Opportunities, Revenue, Production, Demand and Geographical Forecast To 2027 - Eurowire

Science has enabled physicians to predict the likelihood of a woman getting breast cancer, much in the same way that meteorologists determine where and when a tornado will touch down and Amazon ensures you receive your order quickly. Predictive modeling, when coupled with powerful tools such as genetic testing, helps doctors prevent breast cancer or detect it early when it is most curable.

Miami Cancer Institutephysicians are at the forefront of these data-driven advances, working to prevent cancer as much as they are focused on curing it. Recently the Institute opened theBreast Cancer Prevention Clinicspecifically for those with a genetic predisposition to breast cancer or another underlying issue that makes them more susceptible. This concept ofprevivorship promotes fighting breast cancer before ever getting it.

In this clinic we will tailor a prevention plan for these patients, saidJane Mendez, M.D., chief of breast surgery at Miami Cancer Institute, so that instead of becoming a breast cancer survivor, they can continue as aprevivor. Meaning that even though you have the increased predisposition to breast cancer, we keep it at that.

With Breast Cancer Awareness Month in October, Dr. Mendez, sat down with Jonathan Fialkow, M.D., deputy medical director and chief of cardiology at Miami Cardiac & Vascular Institute, for a recent episode of theBaptist HealthTalk podcast, Breast Cancer: Risks, Prevention and Previvors. They discussed the latest breast cancer advances, as well as the basics such as screening guidelines and prevention recommendations.

Below are edited excerpts from their conversation. You can also access this and other Baptist HealthTalk podcast episodes in their entirety on your computer or smartphone or viaApple PodcastsandGoogle Podcasts.

Dr. Fialkow:

Lets start out by talking about what would be risk factors that would make a woman more likely to get breast cancer? What are the things weve identified that we want to pay attention to?

Dr. Mendez:

The two main risk factors for breast cancer are being a woman and getting older. So, even though wed like to forget about breast cancer the older we get, the more concerned we need to be about it. To that, you can add other factors such as family history as well as some environmental factors, some hormonal factors, and some of those are modifiable and some are not.

Dr. Fialkow:

What would the average person be told to do regarding screenings, mammograms, etc.?

Dr. Mendez:

For an average woman with no significant risk factors, the recommendation is a baseline mammogram anytime between age 30 to 40, and, then, provided there are no abnormalities, an annual mammogram starting at age 40. And we know the denser the breast tissue, the more important it is to complement that with a breast ultrasound. Its part of doing a more thorough evaluation.

Dr. Fialkow:

You mentioned some of the non-modifiable risk factors, things you cant change. One is family history, which speaks to genetics. Can you unpack that a bit?

Dr. Mendez:

I want to make it clear that only 10 percent of breast cancers occur in women who have a family history of breast cancer and 5 percent have an identifiable mutation or something in the genetic makeup that really predisposes them to breast cancer. At the time of our initial consultation, or as part of our follow-up, we ask very specific questions about family history. Who was the relative? Is this your mother, your sister? Also we would want to know about any male breast cancer in the family or any other cancers in the family. We ask about ovarian cancer because thats related to the BRCA genes, which are the most prevalent genes associated with breast cancer. But we also ask about colon cancer, prostate cancer, pancreas, stomach cancer, because we know that certain genetic mutations are also associated with the gene. It helps us stratisfy the risk so we can determine who might benefit from a genetic consultation and actual genetic testing.

Dr. Fialkow:

If someone is high risk, what is the next step?

Dr. Mendez:

We have models to help us calculate. One that is most commonly used is the Tyrer-Cuzick Eighth Edition model, where it takes a lot of these factors in consideration. It gives us a percentage probability of that woman developing breast cancer within 10 years and during their lifetime. If someone indeed has high risk, usually greater than 20 percent, in addition to the increased surveillance, we will follow that patient with a breast MRI.

Dr. Fialkow:

During COVID-19 were seeing a decrease in women getting their mammograms. Can you speak to how important it is to maintain your screening, your routine screening process?

Dr. Mendez:

Its very important to maintain the screening. Early detection is key for improved outcomes and improved survival. In addition to screening, its important to know your family history and your body. I cannot underscore the importance also of breast self-exam. I can assure patients that the imaging centers are following COVID-19 guidelines in terms of safety. I encourage all women to go and seek their mammogram so that we can attend to their needs and continue with prevention.

Dr. Fialkow:

Can we talk a little about the Breast Cancer Prevention Clinic at Miami Cancer Institute?

Dr. Mendez:

In this clinic we are trying to identify a very specific patient population at increased risk of breast cancer because of their family history, certain pathologic conditions, previous radiation or because they have been identified to have some of these high-risk mutations. We will tailor a prevention plan, including genetic consultation if needed, and nutrition and exercise plans so that they can monitor all of the different components that are critical in order to maintain a healthy lifestyle. Instead of becoming a breast cancer survivor, they can continue as aprevivor. So thats a great concept.

Dr. Fialkow:

Theres also aBenign Breast Cancer Clinic. Could you speak a little about the benefit of that?

Dr. Mendez:

This clinic focuses on non-cancerous conditions. We make sure that in their clinical exam, everything is normal, as well as in their imaging. These are women who might be having breast pain or cysts or other benign conditions and need to be reassured by an expert so that they can move on, and, receive proper follow-up when needed.

Dr. Fialkow:

And how about survivorship programs?

Dr. Mendez:

Its not only about surviving the breast cancer, but also living your life with good quality and any adjustments. Currently in the United States we have 3 million breast cancer survivors because of all the advances and technology. We have a whole program of survivorship, everything from psychological support to yoga classes, to acupuncture, to nutrition and obviously healing. Whatever is needed to keep the patient not only cancer-free, but with great quality of life.

Tags: breast cancer, breast cancer awareness month, Miami Cancer Institute

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Previvorship: How to Beat Cancer Before It Happens - Baptist Health South Florida

An international team of scientists from China, Taiwan and the United States has successfully sequenced and analyzed the genomes of the Chinese banyan tree (Ficus microcarpa), which is famous for its extraordinary aerial roots; Ficus hispida, a related fig species lacking aerial roots; and Eupristina verticillata, a wasp coevolving with the banyan tree. Theyve identified regions in the banyan trees genome that promote the development of its unusual aerial roots and enhance its ability to signal its wasp pollinator, and found a sex-determining region in Ficus hispida.

Zhang et al. reveal the genomic changes that allow the Chinese banyan tree (Ficus microcarpa) to produce roots that spring from its branches. Image credit: Gang Wang.

Understanding the evolutionary history of Ficus species and their wasp pollinators is important because their ability to produce large fruits in a variety of habitats makes them a keystone species in most tropical forests, said Professor Ray Ming, a researcher at the University of Illinois, Urbana-Champaign.

To better understand their evolutionary developments, Professor Ming and colleagues analyzed the genomes of the two fig species, Ficus microcarpa and Ficus hispida, along with that of Eupristina verticillata, a wasp that pollinates Ficus microcarpa.

When we sequenced the trees genomes, we found more segmental duplications in the genome of the banyan tree than in Ficus hispida, the fig without the aerial roots, Professor Ming said.

Those duplicated regions account for about 27% of the genome.

The duplications increased the number of genes involved in the synthesis and transport of auxins, a class of hormones that promote plant growth.

The duplicated regions also contained genes involved in plant immunity, nutrition and the production of volatile organic compounds that signal pollinators.

The levels of auxin in the aerial roots are five times higher than in the leaves of trees with or without aerial roots, Professor Ming said.

The elevated auxin levels appear to have triggered aerial root production. The duplicated regions also include genes that code for a light receptor that accelerates auxin production.

When the researchers studied the genome of the Eupristina verticillata wasp and compared it with those of other related wasps, they observed that the wasps were retaining and preserving genes for odorant receptors that detect the same smelly compounds the fig trees produce.

These genomic signatures are a signal of coevolution between the fig trees and the wasps.

The authors also discovered a Y chromosome-specific gene that is expressed only in male plants of Ficus hispida and three other fig species that produce separate male and female plants, a condition known as dioecy.

This gene had been duplicated twice in the dioecious genomes, giving the plants three copies of the gene, Professor Ming said.

But Ficus species that have male and female flowers together on one plant have only one copy of this gene.

This strongly suggests that this gene is a dominant factor affecting sex determination.

The results were published in the journal Cell.

_____

Xingtan Zhang et al. Genomes of the Banyan Tree and Pollinator Wasp Provide Insights into Fig-Wasp Coevolution. Cell, published online October 8, 2020; doi: 10.1016/j.cell.2020.09.043

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Researchers Sequence Genomes of Two Fig Species and Pollinator Wasp | Genetics - Sci-News.com

Norman Swan: One of the mysteries surrounding COVID-19, the disease that is caused by SARS-CoV-2, is why some people experience severe life-threatening disease and others don't. Age, male gender and having other problems like diabetes, heart and lung disease and probably obesity, are risk factors. But what about individual differences in people's immune systems? Well, two recent studies have found that to be the case in a significant percentage of people with serious COVID-19 disease. One study looked for genetic patterns and found an effect on immune messages called interferons. There are about 18 interferons in the body and they act like volume controls and orchestra conductors in the immune system once it has been alerted to an attack by a virus. The second study found antibodies against interferon in some people. This has huge implications for a better understanding of the immune system, not to mention more targeted therapies for people with COVID-19. Professor Paul Hertzog is one of Australia's leading experts on interferons. Paul is head of the Centre for Innate Immunity and Infectious Disease at the Hudson Institute in Melbourne.

Paul Hertzog: This study, initiated by Jean-Laurent Casanova who is based at the Rockefeller, and Helen Su at NIH, they've set up actually a global network looking for patients who might have genetic predispositions to getting extremely ill with the Covid SARS-CoV-2 virus. And it is really the first output of that global network of people who are doing the searches.

So firstly it's really the first substantial report that there is a genetic susceptibility of this disease. It's something that we always suspected but this really proves it. And more particularly what is unusual and fascinating is that most of the culprits they found were actually lying in different components of the interferon signalling system.

Norman Swan: They found a relatively consistent genetic problem in people when they looked at their genes, and these genes seem to code for the interferons in some shape or form.

Paul Hertzog: Yes, they identified 12 genes that we knew were involved in susceptibility to infections, particularly respiratory infections, and they happen to be in the interferon pathway, but involved in the production of it, or the response to it. And so they really looked where the light was and they said, well, can we find deficiency in any of these 12 genes? They actually found deficiencies in quite a high proportion of patients, about 3% of them. So I'm sure there are many more to cover because this was really just a very targeted look.

Norman Swan: So 3% doesn't sound too high.

Paul Hertzog: With a million people dying, I think it's a lot of human beings. And I think it is just the tip of the iceberg.

Norman Swan: People have been talking about interferons now for a while, and in fact interferons have been trialled as a treatment for people with COVID-19 disease even prior to these studies coming out. What's the net effect of these genetic abnormalities or these genetic differences?

Paul Hertzog: I suppose what they might enable us to do, Norman, is to use what you would call a precision medicine approach where we can identify people who would benefit and who would not benefit from this. So, for example, if a person has a defect which means they are unable to respond to interferon, and some of these genes are involved in that, it's absolutely pointless giving them interferon therapeutically because they just would not be able to respond. On the flipside, if we identify patients who can't make it and some of the genes are involved in the making of the interferon, then they are more likely to benefit from therapeutic administration of interferon.

Norman Swan: So where does this research go next? Presumably it's a simple test or what?

Paul Hertzog: I think that's a simple test. As I said, I think it might enable us to identify groups of patients who are likely to respond to interferon than those who don't. And if we can talk for a minute about the other paper which involves the identification of autoantibodies to interferon, that's probably in fact a far more fascinating study because autoantibodies, some of your listeners might recognise, are usually associated with autoimmune diseases like lupus where something goes wrong with the immune system, instead of recognising a foreign antigen it turns on itself, and these rogue antibodies can cause disease. So what they found in their second study was that 10% of the patients they looked at, which is a staggering number really, produced antibodies to these type I interferons and would negate its effect. That population of patients won't be able to respond. That has a number of implications. Secondly,

Norman Swan: Before you get to the implications, is the assumption that the autoantibodies pre-existed the infection or were created by the virus?

Paul Hertzog: Their study was nearly 1,000 patients, so there were probably about 100 of them and that they found these autoantibodies. I think in about 10 or 12 of them that they had the opportunity in the samples there to look before they had obvious signs of disease, and some of them did have pre-existing antibodies, but that's just a small proportion of those patients, I think it needs a much bigger study but it tells us that some of them certainly can predate. And that's interesting for a number of reasons because it identifies an underlying condition that we never would have thought of. And the other thing is those patients have no previous signs of other respiratory or susceptibility to viral infections, which raises the question whether this is fairly specific to COVID-19.

Norman Swan: And it also raises a question which a lot of people, at least to my Coronacast podcast ask, if I've got rheumatoid arthritis or Multiple Sclerosis or scleroderma or SLE, one of the other autoimmune diseases, doesn't make me more susceptible to COVID-19? Do any of the other autoantibodies that are around in the community affect interferons in this way?

Paul Hertzog: A really interesting question that has complicated answers, and the answers are yes and no. There are some autoimmune conditions where similar autoantibodies to interferons have been seen. But there are others like lupus where the opposite seems to happen. In lupus it seems a large part of the disease is driven by interferon, and in fact there was a large trial headed by an Australian clinician from Monash, Eric Morand last year that identified blocking antibodies to interferon that actually look like they will have beneficial effects in lupus, so that's quite the opposite effect.

Norman Swan: So this discovery of autoantibodies which might actually be quite significant in a reasonable percentage of people, is there a therapy there?

Paul Hertzog: Good question. Not obviously. It's probably may lieagain, if you're thinking interferon therapy it clearly wouldn't work and less there is some specificity in the antibodies that you could get around. I think there are ways of screening it out. For example, you wouldn't want the samples of those serum in your convalescent serum preparation, so I think there are practical outcomes like that.

Norman Swan: Oh yes, that's right, so if you're taking serum from these people to give to other people and you give them autoantibodies you can make them worse.

Paul Hertzog: Right, so it's another screening test for that. There are B cell and antibody depletion therapies that are used in other autoimmune diseases, and that might be in the area that could be looked at in these patients.

Norman Swan: So what's next for your research, given all this?

Paul Hertzog: Well, it provides us with an opportunity. For us it's yet another example of the importance of the interferon system. We are currently collaborating with Jean-Laurent Casanova in a number of these mutations prior to Covid and we will continue that. What we'll do is drill down to try and find out the mechanism whereby some of these mutations in the interferon system are working, and in fact whether some of them that haven't yet been identified as loss of function and disease contributing might in fact be so.

Norman Swan: Paul, thanks for joining us.

Paul Hertzog: My pleasure, thanks a lot.

Norman Swan: Professor Paul Hertzog is head of the Centre for Immunity and Infectious Disease at the Hudson Institute in Melbourne.

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Could genetics explain the mystery of severe coronavirus? - ABC News

How can you make this type of research information into news you can use? Thats a real challenge.

About a year ago, I thought I saw a path to greater use of genetic information by consumers. An ambitious company named Veritas Genetics was offering full genome sequencing to U.S. customers for $599 US. They told me they were planning to expand to Canada. Veritas is backed by considerable brainpower, including its co-founder, Harvard professor George Church, often called the father of synthetic biology.

A full human genome sequence is about three billion base pairs, containing your complete genetic blueprint. By contrast, companies like Ancestry and 23andme only look at certain parts of the genome that provide information about ancestral roots and common medical conditions.

What Veritas seemed to lack is financial backing. This was complicated by the fact that many of its investors were from China, which raised red flags because of possible U.S. regulations. Privacy experts have also told us to be very careful about where our genetic data goes once it leaves our mouth as a bit of spittle. Veritas has suspended their U.S. whole genome testing, laid off some staff, and is currently focusing on COVID-19 tests.

Competitors are cropping up, and theres no doubt you will eventually be able to download your complete gene sequence and scan it for interesting findings. There are already tools out there like OpenSNP that can work with the information you can download from 23andme, deCODEme or FamilyTreeDNA. It can answer questions like am I a fast metabolizer of caffeine?

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Keenan: Thinking well beyond COVID-19 - Calgary Herald