Archive for December, 2020

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

Dr. Faye Yin

Dr. Faye Yin

Melanoma is a serious and life-threatening form of cancer that begins in the skin but can spread rapidly if not treated early. We sat down with board-certified oncologist Dr. Faye Yin, an oncologist at Jersey City Medical Center, to learn more about this disease, its causes and risk factors, and why its important to protect yourself from excessive sun exposure even during the cold winter months.

What are the main risk factors for developing melanoma?

Ultraviolet, or UV, light exposure is the major risk factor. Melanoma is associated with both UVB rays, which are present in sunlight, and UVA rays, which are generated by tanning beds. Other risk factors include the presence of moles on the skin. Most are benign, but those with excessive moles should consult a dermatologist, especially if they observe any changes. Often, a mole will be removed as a precautionary measure. Age is also a risk factor; the older the person, the higher the risk. People with fair skin, freckles, and lighter hair are also more susceptible, which is why melanoma is more common in white and light-skinned people. Other risk factors include family history and the presence of a weakened immune system. Those with xeroderma pigmentosum, or XP, a rare genetic disorder, are particularly at risk because the condition affects the ability of skin cells to repair themselves after UV light exposure.

What should people do if they have any of these risk factors?

As with most risk factors impacting health, there are things you can change, and things you cannot. You cant change your skin color or family history, and you cant avoid getting older. But you can limit your exposure to UV rays. A popular catchphrase that I tell my patients, which has been promoted by the American Cancer Society, is Slip, Slop, Slap, and Wrap. Slip on a shirt, slop on some sunscreen, slap on a hat, and wrap on some sunglasses. I also recommend that people avoid using tanning beds and sun lamps. Teaching children about sun safety is especially important, because they tend to spend more time outdoors and can burn more easily. It is also important for people with risk factors to pay closer attention to their skin. Keep an eye out for abnormal moles or other skin features that appear to be unusual or changing over time, and consult a dermatologist if necessary.

Can sunlight still be dangerous during winter?

Yes whether youre skiing or just going for a walk, it is great to enjoy the sun and being outdoors in the winter, but its just as important to protect yourself from excess sun exposure in winter as it is in summer. Harmful ultraviolet rays are present year-round. They can even filter through dark cloud coverage to reach your skin, increasing your risk of melanoma. Some people may experience a bad sunburn on a winter vacation, especially if they ski in high altitudes, because UV rays are usually more intense in higher regions with a thinner atmosphere. When youre outside, any uncovered areas of your body are exposed to UV rays. So, its important to wear sunscreen even in the winter months.

Is smoking a risk factor for developing melanoma, and if so, is it mostly if youre currently smoking (for instance, what if you smoked for years and stopped?)

As an oncologist, every day I tell my patients: dont smoke! Smoking is a contributing factor for many cancers, and I believe that it also affects overall skin health; I can often look at someones skin and tell whether they smoke. That having been said, we dont have evidence that smoking directly contributes to melanoma. But I always encourage patients not to smoke to stay healthy and minimize their cancer risk.

Why does having a weakened immune system count as a risk factor for melanoma?

Having a weakened immune system increases the risk of melanoma and other cancers. I have worked with many patients whose immune systems have been compromised, either by illness or in some cases due to medical treatment for other conditions. For example, immunosuppressive drugs are used after stem cell and organ transplants, to prevent the body from rejecting the transplant. Certain diseases also compromise the immune system, such as HIV. A weakened immune system increases cancer risk for two reasons. First, because the body has less ability to detect and destroy cancer cells. And secondly, because the body is more susceptible to infections that may lead to cancer.

Is gender a risk factor? If so, do we know why?

In the United States, men typically have a higher rate of melanoma than women, though this varies by age. Before age 50, the risk is higher for women, and after age 50, the risk is higher in men. We believe that this discrepancy relates to the fact that men are likely to spend more time in the sun over the course of their lifetimes. I also think that women are more likely to wear sunscreen than men, so this may play a role. In addition, men tend to have thicker skin with less fat beneath it and more collagen, and some research shows that this can make the skin more susceptible to sunlight damage. Also, some studies have shown that estrogen, which is more prevalent in women, can increase resistance to melanoma.

Are older people at higher risk for melanoma?

The risk of melanoma increases as you age. The average age for a melanoma diagnosis is age 65. But melanoma is not uncommon even among those younger than age 30. In fact, it is one of the most common cancers in young adults, especially young women. Melanoma is also more common in younger people whose families have a history of melanoma.

How does having a family history of having melanoma impact someone?

Family history is definitely a melanoma risk factor; the risk is higher among those who have one or more first-degree relatives who have had melanoma. About 10 percent of people diagnosed with melanoma have a family history. Families tend to have shared lifestyle habits, such as more frequent sun exposure, and in addition they typically have similar skin types and share certain genetic characteristics. You cant change your skin color or your genes, but you can change some factors. If you know that you are higher risk, and have a family history, pay close attention to your skin. Avoid excessive sunlight and tanning beds, and consult a dermatologist if you have concerns.

Why is UV light exposure a risk factor?

Numerous studies have shown that sun and UV light exposure is a major melanoma risk factor, especially for children and teens. Research shows that early sun exposure can damage the DNA in skin cells. Melanocytes are the cells that produce melanin, which gives skin its pigmentation, and damaging these cells can start the path to melanoma. Melanoma commonly occurs on the thighs of women, and on the trunks of men, as well as on arms and faces, which are the areas that most often receive chronic sun exposure in young people. In addition to limiting UV light exposure, people should also examine their own skin at least monthly, especially if there are high risk factors. If you see something unusual, such as a large mole or a spot youre not sure about, I will often encourage patients to take a photograph of it. You might not notice small changes over time because you get accustomed to them. But if you take a picture of a spot on your skin and compare it a month or a few months later, and you see a change, you should see a dermatologist.

View post:
The facts about the danger of melanoma - The Hudson Reporter

Adrenomyeloneuropathy is a rare genetic neuro-degenerative disease. Adrenomyeloneuropathy is the adult onset of adrenoleukodystrophy caused by the mutation in ABCD1 gene occurs usually in young boys. Adrenomyeloneuropathy disease affect the nerve cells in the spine and brain and the adrenal glands. Adrenomyeloneuropathy symptoms includes stiffness, weakness and pain in the legs. Adrenomyeloneuropathy is also known as progressive spastic paraparesis. Damage to the nerves of the legs which causes unsteadiness and fall, also the bladder, bowel and sexual organs are affected by the adrenomyeloneuropathy. Rare diseases affect vast numbers of people, with current data representing 30 million sufferers in the EU alone and 30 million affected in the US. There is no cure to Adrenomyeloneuropathy. However some treatment might stop the progression of Adrenomyeloneuropathy such as stem cell transplants. Blood testing, MRI test, vision screening and Skin biopsy and fibroblast cell culture are done for the diagnosis for the adrenomyeloneuropathy. Continued advances in the treatment of adrenomyeloneuropathy will further propel the adrenomyeloneuropathy treatment market.

Growing cases of rare disease and development of new and advanced treatment for rare disease is expected to boost the adrenomyeloneuropathy treatment market. Growing preference for healthy lifestyle and favorable government regulation spur the Adrenomyeloneuropathy treatment market in the forecast period. Development of new technology and devices for the diagnosis of genetic disorders will propel the adrenomyeloneuropathy treatment market. Rising focus on the research and development of new therapeutic and drug treatment and growing government funding for the orphan drug is expected to drive the adrenomyeloneuropathy treatment market.

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However, stringent regulations for the drug development and high cost of associated with the treatment is expected to hinder the adrenomyeloneuropathy treatment market.

The global adrenomyeloneuropathy treatment market is segmented on basis of disease type, drug type and end user and geography.

Development of novel drugs and undergoing clinical trial for the rare disease is expected to boost adrenomyeloneuropathy treatment market. More than 3,000 drugs are in active development for one of the rare disease. Progress in genomics and biomedical science for the development of rare disease drug is expected to spur the adrenomyeloneuropathy treatment market. Various pharmaceutical companies are focusing on developing drug for the low prevalence disease types and rising funding and collaboration among the key players and government is expected to spur the adrenomyeloneuropathy treatment market.

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The North America market for adrenomyeloneuropathy treatment is expected to retain its dominance, owing to increasing patient pool for rare disease, increasing government funding to accelerate the research and development for rare disease. According to Genetic and Rare Diseases Information Center, more than 25 million Americans are suffering from rare disease in United States.Europe is expected to account for the second largest share in the global adrenomyeloneuropathy treatment market owing to growing clinical trial funding programs for orphan drug development and high prevalence of adrenomyeloneuropathy and high treatment seeking rate. Asia Pacific is expected to show significant growth, owing to increasing diagnosis rate and improvement in healthcare infrastructure. China is expected to show significant growth in the adrenomyeloneuropathy treatment market, due to rising population improving R&D capability, increasing per capita heath spending. Latin America and Middle East & Africa is expected to show growth owing to lack of diagnosis and inadequate healthcare facilities and lack of skilled physicians for Adrenomyeloneuropathy Treatment market.

Examples of some of the key manufacturer present in the global adrenomyeloneuropathy treatment market are Ascend Biopharmaceuticals, Novadip Biosciences, Eureka Therapeutics, Human Longevity, Regeneus, Allogene Therapeutics, BioRestorative Therapies, Immatics Biotechnologies, NewLink Genetics, Cytori Therapeutics, Talaris Therapeutics among others.

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Pune, Maharashtra, India, December 18 2020 (Wiredrelease) Brandessence Market Research and Consulting Pvt ltd :Global Cell Banking Outsourcing Market is valued at USD 7122.6 Million in 2019 and expected to reach USD 18489.6 Million by 2026 with the CAGR of 14.6% over the forecast period.

Rising prevalence of cancer and infectious chronic disorders couples with growing demand for research and development in therapy viral cell banking and viral cell banking safety testing are expected to propel the growth of the Global Cell Banking Outsourcing Market.

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Scope of Global Cell Banking Outsourcing Market Report

The cell banking outsourcing is an ability that stores cells of specific genome for the purpose of future use in a product or medicinal needs to use of gene therapy, stem cell therapy, biopharmaceutical production that target on novel active sites. They are frequently containing expansive amounts of base cell material that can be utilized for various projects. The cell banking outsourcing can be used to generate detailed characterizations of cell lines and can also help mitigate cross-contamination of a cell line. Hence, the cell banking outsourcing is commonly used within fields including stem cell research and pharmaceuticals with cryopreservation being the traditional method of keeping cellular material intact. However, the cell banking is most generally used in stem cell research and therapy. The similar types of cell banking include master cell banks and working cell banks. Although, the master cell banks are expanded to form working cell banks consist of pure cells from are replicated whereas working cell banks consist of thawed cells that are replicated in cell culture.

Additionally, it is a process of replicating and storing cells for the purpose of future use. This storage of these cell samples can be utilized for research purposes and for surgical reconstruction of damaged body structures. However, the bank storage in cell banking encompasses preservation of both master and working cell banking, and their respective safety testing. The cell banking outsourcing expected to witness lucrative growth over the forecast period owing to the presence of increased research in cell line development coupled with the presence of market players providing outsourcing services for cell banking and cell line storage to different hospitals and clinical research organizations.

Global Cell Banking Outsourcing Market report is segmented on the basis of type, application, and by regional & country level. Based on type, global cell banking outsourcing market is classified as the master cell banking, viral cell banking and working cell banking. Based upon application, global cell banking outsourcing is classified into bank storage, working cell bank storage, master cell bank storage cell storage stability testing, bank preparation, bank characterization & testing and others.

The regions covered in this cell banking outsourcing market report are North America, Europe, Asia-Pacific and Rest of the World. On the basis of country level, market of cell banking outsourcing is sub divided into U.S., Mexico, Canada, U.K., France, Germany, Italy, China, Japan, India, South East Asia, GCC, Africa, etc.

Cell Banking Outsourcing Manufacturers:

Some major key players for Global Cell Banking Outsourcing Market are,

BioReliance Covance Global Stem Inc BSL Disservice Clean cells Charles River Laboratories Lonza Toxikon Corporation Cryobanks International India Wuxi Apptec Reliance Life Sciences Life Cell International Pvt. Ltd BioOutsource (Sartorious) CordLife PXTherapeutics SA SGS Life Sciences Texcell Cryo-Cell International Inc. Others

Global Cell Banking Outsourcing Market Dynamics

The rapidly increasing awareness for stem cell banking in the developing countries, and increasing governments initiatives that promote awareness for stem cell isolation and related benefits are some of the major factors driving the market growth during the forecast period. In addition, increasing application of stem cells for developing personalized medicines to minimize the spread of various chronic diseases and also the association of aging with the inability of the body to maintain tissue turnover and hemostasis has helped researchers to focus on this target population for providing relative therapies that would act effectively on the damaged cells. These factors are also supplementing the market growth. According to the World Health Organization (WHO), estimates of cancer incidence and mortality produced by the International Agency for Research on Cancer, with a focus on geographic variability across 20 globes about 18.1 million new cancer cases about 17.0 million excluding no melanoma skin cancer and 9.6 million cancer deaths in 2018. Furthermore, the master cell banks are useful for the preparation of working cell banks and thus find applicability in various research and development perspectives for stem cell therapy and gene therapy thereby resulting to section growth. The occurrence of favorable government initiatives pertaining to the R&D for development of stable cell lines, the opening of new technology for storage and description of cell lines are among the critical factors predictable to advance market growth over the forecast period.

However, the high cost associated with storing these cells in cell banks is a major challenge faced by this market which may hamper the growth of cell banking outsourcing market. In addition, the various legal challenges associate with banking a variety of cells, especially considering stem cells banking, are expected to restrain market growth. The advanced technologically cryopreservation techniques are expected to fuel the growth of this market throughout the forecast period. In spite of that, the increase in the average life expectations due to advanced medical research and improved general lifestyle of the population and straightforward regulations for the stem cell researchers are expected to create significant potential for this market in coming few years. Increasing number of adipose tissue banking can offer various opportunities of the cell banking outsourcing market.

Global Cell Banking Outsourcing Market Regional Analysis

North America is expected to dominate the global cell banking outsourcing drug market due to the highest market share owing to the increasing number biopharmaceutical companies & manufacturers and increasing awareness for the use of stem cells as therapeutic proteins and antibiotics in this region. According to the World Health Organization (WHO), the American Cancer Society epidemiologists, at least 42% of newly diagnosed cancers in the U.S. about 729,000 cases are potentially avoidable, including 19% that are caused by smoking and 18% that are caused by a combination of excess body weight, physical inactivity, excess alcohol consumption, and poor nutrition. In addition, presence of regulatory authorities that promotes continuous R&D activities is also supplementing the market growth in North America.

The Asia Pacific is expected to witness significant growth in demand over the forecast period owing to increase in number of supportive government initiatives pertaining to investments in biotechnology sector in this region. In addition, the ongoing R&D activities for cancer treatment and fertility preservation facilitate the demand for cell banking services in this region.

Key Benefits for Global Cell Banking Outsourcing Market Report

Global Cell Banking Outsourcing Market report covers in depth historical and forecast analysis.

Global Cell Banking Outsourcing Market research report provides detail information about Market Introduction, Market Summary, Global market Revenue (Revenue USD), Market Drivers, Market Restraints, Market opportunities, Competitive Analysis, Regional and Country Level.

Global Cell Banking Outsourcing Market report helps to identify opportunities in market place.

Global Cell Banking Outsourcing Market report covers extensive analysis of emerging trends and competitive landscape.

Global Cell Banking Outsourcing Market Segmentation:

By Type:Master Cell Banking, Viral Cell Banking, Working Cell Banking

By Application:Bank Storage, Working Cell Bank Storage, Master Cell Bank Storage, Cell Storage Stability Testing, Bank Preparation, Bank Characterization & Testing

Regional & Country AnalysisNorth America, U.S., Mexico, Canada , Europe, UK, France, Germany, Italy , Asia Pacific, China, Japan, India, Southeast Asia, South America, Brazil, Argentina, Columbia, The Middle East and Africa, GCC, Africa, Rest of Middle East and Africa

Table of Content

1. Chapter Report Methodology1.1. Research Process1.2. Primary Research1.3. Secondary Research1.4. Market Size Estimates1.5. Data Triangulation1.6. Forecast Model1.7. USPs of Report1.8. Report Description

2. Chapter Global Cell Banking Outsourcing Market Overview: Qualitative Analysis2.1. Market Introduction2.2. Executive Summary2.3. Global Cell Banking Outsourcing Market Classification2.4. Market Drivers2.5. Market Restraints2.6. Market Opportunity2.7. Cell Banking Outsourcing Market: Trends2.8. Porters Five Forces Analysis2.9. Market Attractiveness Analysis

3. Chapter Global Cell Banking Outsourcing Market Overview: Quantitative Analysis

4. Chapter Global Cell Banking Outsourcing Market Analysis: Segmentation By Type

5. Chapter Global Cell Banking Outsourcing Market Analysis: Segmentation By Application

Continued.

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At 14.6% CAGR, Cell Banking Outsourcing Market 2020 Industry Analysis of Current Trends and Opportun - PharmiWeb.com

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Each product in the TruSkin Daily Essentials Trio is loaded with nourishing ingredients to brighten and hydrate your skin. The vitamin C serum is filled with antioxidants that target dark spots and uneven texture, leaving your face feeling smooth and looking radiant. I have never used a skincare product so effective at brightening my skin tone and adding vibrancy to my complexion, one reviewer confirmed.

The face moisturizer featured in the bundle also uses vitamin C to soften your skin and lighten dark spots. Other ingredients in the moisturizer include shea butter, jojoba oil, and vitamins E and B5. When joined together in a creamy formula, these elements made my skin brighter, more supple, and with concurrent use with TruSkins Vitamin C serum, evened out my complexion, a shopper shared.

To complete your new skincare routine, the bundle also includes the TruSkin Peptide Eye Gel. This cream is made with peptides, plant stem cells, hyaluronic acid, and antioxidants to brighten dark circles and reverse signs of aging, such as wrinkles, crows feet, and puffiness. If you struggle with tired-looking eyes each morning, this is the product you need to awaken and de-puff the skin surrounding your eyes.

When you purchase all three products together in the bundle, youll receive them in an organic cotton cosmetic bag and save $14 overall. Plus, if you place your order now, the skincare trio will arrive in time for Christmas. But, if you want just one or two of these fan-favorite products, you can also purchase them individually.

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TruSkin Dropped a Holiday Bundle Including Its Vitamin C Serum - InStyle

LONDON--(BUSINESS WIRE)--Gyroscope Therapeutics Limited, a clinical-stage gene therapy company focused on diseases of the eye, today announced the company has entered a sponsored research agreement with the University of Pennsylvania and the Penn Center for Advanced Retinal and Ocular Therapeutics (CAROT) to develop gene therapies for serious eye diseases that can lead to permanent vision loss. Gyroscope has an exclusive option to the intellectual property associated with, and arising from, the research conducted under the agreement.

A team of researchers from CAROT and Gyroscope will work together to explore specific gene therapy targets for glaucoma, optic neuritis and retinitis pigmentosa. The CAROT team is led by Jean Bennett, M.D., Ph.D., the F.M. Kirby Professor of Ophthalmology, along with Ken Shindler, M.D., Ph.D., an Associate Professor of Ophthalmology and Ahmara Ross, M.D., Ph.D., an Assistant Professor of Ophthalmology, of the Perelman School of Medicine.

Too many people around the globe face a life with limited vision or complete blindness because current treatment options for many serious eye diseases are so limited, said Khurem Farooq, Chief Executive Officer, Gyroscope. Gene therapy has the potential to be a completely new way of approaching these diseases, and we are very excited to work with Jean and the team of world leaders in ophthalmic gene therapy research at the University of Pennsylvania to evaluate new targets for these conditions.

Our team is passionate about the potential of gene therapies for people with serious eye diseases, said Dr. Bennett. We are looking forward to furthering our research in glaucoma, optic neuritis and retinitis pigmentosa, which combined currently cause a devastating loss of vision for millions of people around the world.

Glaucoma is a leading cause of irreversible blindness globally. An estimated 80 million people have glaucoma worldwide, and this number is expected to increase to more than 111 million by 2040.1 There is no cure for glaucoma. If it is caught early, people with glaucoma can be treated with surgery or medication to help control the disease. Because glaucoma typically does not cause pain, it often progresses silently and is not diagnosed until the optic nerve is irreparably damaged.

Retinitis pigmentosa (RP) refers to a group of rare genetic retinal diseases that cause progressive loss of night and peripheral vision. The condition is often diagnosed in childhood or adolescence and can lead to legal, and sometimes complete, blindness. An estimated 300,000 people worldwide have RP, mainly caused by a genetic variant inherited from one or both parents.2

Optic neuritis occurs when the optic nerve is damaged as a result of inflammation. Symptoms of optic neuritis include temporary vision loss in one eye and pain with eye movement. Optic neuritis is closely associated with multiple sclerosis (MS): It is the first sign of MS in 20% of patients and occurs during the course of the disease in 50% of MS patients.3

About Gyroscope: Vision for Life

Gyroscope Therapeutics is a clinical-stage gene therapy company developing gene therapy beyond rare disease to treat diseases of the eye that cause vision loss and blindness. Our lead investigational gene therapy, GT005, is currently being evaluated in Phase II clinical trials for the treatment of geographic atrophy (GA) secondary to dry age-related macular degeneration (AMD), a leading cause of blindness. GT005 is designed to restore balance to an overactive complement system by increasing production of the Complement Factor I protein. GT005 has received Fast Track designation from the U.S. Food and Drug Administration for the treatment of people with GA.

Syncona Ltd, our lead investor, helped us create a leading gene therapy company combining discovery, research, drug development, a manufacturing platform and surgical delivery capabilities. Headquartered in London with locations in Philadelphia and San Francisco, our mission is to preserve sight and fight the devastating impact of blindness. For more information visit: http://www.gyroscopetx.com and follow us on Twitter (@GyroscopeTx) and on LinkedIn.

1 Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY. Global prevalence of glaucoma and projections of glaucoma burden through 2040: a systematic review and meta-analysis. Ophthalmology. 2014 Nov;121(11):2081-90.

2 Cowen Equity Research Therapeutic Categories Outlook: Comprehensive Study. 2020 Feb;P.2334.

3 Kale N. Optic neuritis as an early sign of multiple sclerosis. Eye Brain. 2016;8:195-202.

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Gyroscope Therapeutics and the University of Pennsylvania Announce Research Agreement to Develop Gene Therapies for Serious Eye Diseases - Business...

18 months into the first serious clinical trials of CRISPR gene therapy for sickle cell disease and beta-thalassemiaand all patients are free from symptoms and have not needed blood transfusions.

Sickle cell disease (SCD) can cause a variety of health problems including episodes of severe pain, called vaso-occlusive crises, as well as organ damage and strokes.

Patients with transfusion-dependent thalassemia (TDT) are dependent on blood transfusions from early childhood.

The only available cure for both diseases is a bone marrow transplant from a closely related donor, an option that is not available for the vast majority of patients because of difficulty locating matched donors, the cost, and the risk of complications.

In the studies, the researchers goal is to functionally cure the blood disorders using CRISPR/Cas9 gene-editing by increasing the production of fetal hemoglobin, which produces normal, healthy red blood cells as opposed to the misshapen cells produced by faulty hemoglobin in the bodies of individuals with the disorders.

The clinical trials involve collecting stem cells from the patients. Researchers edit the stem cells using CRISPR-Cas9 and infuse the gene-modified cells into the patients. Patients remain in the hospital for approximately one month following the infusion.

Prior to receiving their modified cells, the seven patients with beta thalassemia required blood transfusions approximately every three to four weeks and the three patients with SCD suffered episodes of severe pain roughly every other month.

All the individuals with beta thalassemia have been transfusion independent since receiving the treatment, a period ranging between two and 18 months.

Similarly, none of the individuals with SCD have experienced vaso-occlusive crises since CTX001 infusion. All patients showed a substantial and sustained increase in the production of fetal hemoglobin.

15 months on, and the first patient to receive the treatment for SCD, Victoria Gray, has even been on a plane for the first time.

Before receiving CRISPR gene therapy, Gray worried that the altitude change would cause an excruciating pain attack while flying. Now she no longer worries about such things.

She told NPR of her trip to Washington, D.C: It was one of those things I was waiting to get a chance to do It was exciting. I had a window. And I got to look out the window and see the clouds and everything.

MORE: MIT Researchers Believe Theyve Developed a New Treatment for Easing the Passage of Kidney Stones

This December, theNew England Journal of Medicinepublishedthe first peer-reviewed research paperfrom the studyit focuses on Gray and the first TDT patient who was treated with an infusion of billions of edited cells into their body.

There is a great need to find new therapies for beta thalassemia and sickle cell disease, saidHaydar Frangoul, MD,Medical Director of Pediatric Hematology and Oncology at Sarah Cannon Research Institute, HCA Healthcares TriStar Centennial Medical Center. What we have been able to do through this study is a tremendous achievement. By gene editing the patients own stem cells we may have the potential to make this therapy an option for many patients facing these blood diseases.

READ: For the First Time in the US, Surgeons Pump New Life into Dead Donor Heart for Life-Saving Transplant

Because of the precise way CRISPR-Cas9 gene editing works, Dr. Frangoul suggested the technique could potentially cure or ameliorate a variety of diseases that have genetic origins.

As GNN has reported, researchers are already using CRISPR to try and treat cancer, Parkinsons, heart disease, and HIV, as well.

Source: American Society of Hematology

More:
Every Patient Treated With CRISPR Gene Therapy for Blood Diseases Continues to Thrive, More Than a Year On - Good News Network

When gene therapy developer Generation Bio raised $110 million in venture funding in January and then followed up six months later with a $230 million initial public offering, it was as sure asign as any that investors are stoked about the next generation of gene therapies to treat rare diseases.

Their enthusiasm hasnt waned during the year, either, despite challenges ranging from the COVID-19 pandemic delaying clinical trials to regulators pushing back some development timelines so they can gather more data on emerging gene therapies.

And as two FDA-approved gene therapies for rare diseases gain ground in the marketSpark Therapeuticss Luxturna for RPE65 mutation-associated retinal dystrophy and Novartis Zolgensma for spinal muscular atrophy (SMA)the biopharma industry is hard at work on novel approaches to correcting rare disorders caused by errant genes. The advances range from new gene-insertion methods to innovations that allow the therapies to penetrate hard-to-reach tissues in the body.

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Some, like Generation, are directly addressing one big concern that has plagued the first generation of gene therapies: Just how durable are they? Its a question BioMarin faced in August when the FDA declined to approve its hemophilia A gene therapy valoctocogene roxaparvovec after data from a trial showed that levels of factor VIII fell 12 to 18 months after patients received the gene therapy, which is designed to restore the critical blood-clotting protein.

Generations lead gene therapy candidates are designed to treat rare blood disorders hemophilia A and phenylketonuria (PKU), and theyre still in preclinical development. Whats new about the company's approachis the delivery system: Rather than using a virus to insert a gene correction, Generation Biouses an alternative technology that avoids touching off an immune responsea buildup of antibodies to the virus that would normally prevent a second round of treatment.

Generations core technology, called non-viral closed-ended DNA (ceDNA), is carried into the body by a lipid nanoparticle. The potential for the technology to sidestep the immune response thats typical with virus-based gene therapies could be important in diseases like PKU, where the gene correction needs to reach liver cells, or hepatocytes.

The newborn liver divides incredibly quickly, and as it grows, the dose of gene therapy goes down, said Geoff McDonough, M.D., CEO of Generation Bio, in an interview. We dont view that as an existential problem. Well just re-dose.

BioMarin, meanwhile, is working with the FDA to address its request for more data on valoctocogene roxaparvovec, which is an adeno-associated virus (AAV)-based gene therapybut its also looking ahead to innovations that could improve future iterations of the technology. For one thing, it'sinvestigating different capsids that that may reduce the immune response to the first dose, thus allowing re-dosing later.

But that may be only a small part of addressing a decline in response to gene therapy. We also have to understand cellular determinants of expression, because maybe re-dosing isnt actually the answer after all, said Hank Fuchs, M.D., president of research and development at BioMarin, in an interview. To that end, BioMarin is studying liver biopsy tissueto try to understand how individual characteristics may affect the fate of the transgene.

And BioMarin is working with Swiss startup Dinaqor to develop gene therapies to treat heart diseases such as hypertrophic cardiomyopathy. To accomplish that, the companies are making capsids that travel not to the liverthe destination of many gene therapiesbut to the heart. If they succeed, it could be a significant platform play for us, Fuchs said. The morbidity for hypertrophic cardiomyopathy is terrible and 60% of cases are genetic. If we can do cardiac delivery, there are other genetic diseases that could be treated with gene therapy.

In 2019, a group of executives who had pioneered SMA gene therapy Zolgensma launched Taysha Gene Therapies with an ambitious goal: They wanted to correct genetic nervous system disorders by delivering gene therapies directly to the spinal fluid. Now, backed by $125 million in private funding and a $157 million IPO, Taysha is in preclinical testing withthree gene therapies for neurodegenerative diseases.

Tayshas gene therapy for GM2 gangliosidosis, a disease that progressively destroys nerve cells, is distinctive for more than its intrathecal delivery, said CEO RA Session II in an interview.

The therapy uses a single viral vector to deliver not one, but two genes at the heart of the disorderHEXA and HEXB. Theyre linked by a self-cleaving peptide and a promoter, which allows the two genes to be expressed at a one-to-one ratio, mimicking the endogenous system of a healthy cell, Session explained in an interview.

Other gene therapy developers are targeting specific cells in the body with new technology. Encoded Therapeutics, for example, is developing a gene therapy to treat the seizure disorder Dravet syndrome. But rather than replacing the mutated SCN1A gene that causes the disorder, Encoded incorporates pieces of DNA into an AAV vector with the goal of dialing up production of the SCN1A protein thats needed to correct the disorder.

RELATED: Encoded Therapeutics bags $135M to push 'precision gene therapy' into the clinic

Passage Bio is addressing GM1 gangliosidosis using a next-generation viral vector called AAVhu68, which in preclinical trials increased the expression of a needed protein not only in targeted cells, but also in the cerebral spinal fluid. The protein is then taken up by neighboring cells, creating an effect of cross correction that the companys scientists hope will improve developmental milestones and survival in the children who have the disease, said CEO Bruce Goldsmith, Ph.D., in an interview.

In August, Passage Bios planned phase 1/2 trial was placed on a clinical hold by the FDA, which cited concerns about the delivery device planned for the trial. The company is conducting risk assessments and testing the device so it can address the agencys questions, and Goldsmith expects to maintain a close dialogue with the FDA going forward.

Infantile GM1 can occur quite early, so we want to make sure the FDA is a collaborator on defining what developmental scales will be appropriate for measuring outcomes. That means not only primary outcomes but also durabilitywhat theyre looking for in terms of meaningful outcomes, he said. U.K. regulators gave their go-ahead for a clinical trial of the therapy in December.

Improving cross-correction in gene therapy is also a priority for Avrobio, which is developing gene therapies for several rare diseases, including Hunter syndrome and Fabry disease. Its technology platform, called plato, consists of a lentiviral vector and tags that help the therapeutic proteins reach the target cells lysosomesthe organelles inside of cells that orchestrate vital processes in the body.

In diseases like Fabry, all thats needed is cross-correction, where the enzyme in circulation is taken up by the cells and creates a profound effect, correcting a deficiency that causes organ damage, said CEO Geoff MacKay in an interview.The tags aid the uptake of a therapeutic protein. Its like a first-class ticket to the target tissues, like muscles and the central nervous system."

In November, Avrobio announced that in phase 1 and 2 trials of its Fabry genetherapy, the response lasted up to 3.5 years.

RELATED: Avrobio tracks improvements in first patient treated with Gaucher gene therapy

LogicBio Therapeutics approach to moving gene therapy into the future is to harness the power of genome editing.

The companys technology, GeneRide, uses strands of DNA to deliver a functioning copy of a faulty gene into cells nuclei, prompting natural DNA repair mechanisms to insert the good gene exactly where it belongs in the chromosome. The therapeutic gene becomes part of that celland of its daughter cells when it dividespotentially preventing a dilution of effect over time that can occur with other gene therapies.

LogicBios lead program, LB-001 to treat the liver disorder methylmalonic acidemia in children age 3 and older, was hit with a delay in February, when the FDA put a hold on the planned clinical trial so the company could address safety-monitoring concerns.

So LogicBio built in a protocol for caregivers to monitor post-treatment safety at home, and it added survival as a secondary endpoint, said LogicBios chief operating officer Kyle Chiang, Ph.D., in an interview. The company hopes to dose the first patient in the trial in early 2021.

BioMarins Fuchs predicts that each new development in gene therapy will raise more questions for the FDAbut that the delays wont prevent the advances from benefiting patients.

As regulators, its not in their DNA to take risks, Fuchs said. But the quest for gene therapy approvals, he added, will continue to go well, as regulators get more familiar with the technology and developers generate more and more data.

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The next generation of gene therapy for rare diseases forges ahead as developers weather hurdles - FierceBiotech

Round was led by Sofinnova Investments with participation from Abingworth, Lightstone Ventures and all existing investors

Company expands board of directors and plans to build out team

DURHAM, N.C. and BOSTON, Dec. 16, 2020 (GLOBE NEWSWIRE) -- Atsena Therapeutics, a clinical-stage gene therapy company focused on bringing the life-changing power of genetic medicine to reverse or prevent blindness, today announced it has closed an oversubscribed $55 million Series A financing led by Sofinnova Investments with participation from additional new investors Abingworth and Lightstone Ventures. Founding investors Hatteras Venture Partners and the Foundation Fighting Blindness RD Fund, along with existing investors Osage University Partners, University of Florida, and Manning Family Foundation, also participated in the round. Sarah Bhagat, PhD, Partner at Sofinnova, Jackie Grant, PhD, Principal at Abingworth, and Jason Lettmann, General Partner at Lightstone, will join Atsenas board of directors.

Proceeds will be used to advance Atsenas ongoing Phase I/II clinical trial evaluating a gene therapy for patients with GUCY2D-associated Leber congenital amaurosis (LCA1), one of the most common causes of blindness in children, as well as complete manufacturing development for Phase 3. In addition, the funds will enable Atsena to expand its team to support the research and development of novel gene therapies, including the progression of two existing preclinical programs in inherited retinal diseases toward the clinic and advancement of the companys innovative adeno-associated virus (AAV) technology platform.

We are grateful for the support of our new and existing investors and are encouraged by their enthusiasm for the potential of our technology to overcome the unique hurdles of inherited retinal diseases to prevent or reverse blindness, said Patrick Ritschel, MBA, Chief Executive Officer of Atsena. The Series A financing provides financial runway to reach the key inflection point of reading out efficacy data from our LCA1 clinical trial. While we continue expeditiously advancing this trial and our preclinical programs, we are excited to accelerate our growth as a leading ophthalmic gene therapy company.

The Phase I/II LCA1 clinical trial is currently enrolling patients in the second dosing cohort. Atsena exclusively licensed the rights to the gene therapy from Sanofi, which originally licensed it from University of Florida. LCA is the most common cause of blindness in children. LCA1 is caused by mutations in the GUCY2D gene and results in early and severe vision impairment or blindness. GUCY2D-LCA1 is one of the most common forms of LCA, affecting roughly 20 percent of patients who live with this inherited retinal disease.

We believe Atsenas foundation in ocular gene therapy and potentially game-changing novel AAV vectors position the company to become a partner of choice, said Dr. Bhagat. Sofinnova is delighted to support Atsena and we look forward to helping the team further its mission to develop life-changing gene therapies for patients with inherited retinal diseases.

About Atsena TherapeuticsAtsena Therapeutics is a clinical-stage gene therapy company developing novel treatments for inherited forms of blindness. The companys ongoing Phase I/II clinical trial is evaluating a potential therapy for one of the most common causes of blindness in children. Its additional pipeline of leading preclinical assets is powered by an adeno-associated virus (AAV) technology platform tailored to overcome significant hurdles presented by inherited retinal disease, and its unique approach is guided by the specific needs of each patient condition to optimize treatment. Founded by ocular gene therapy pioneers Dr. Shannon Boye and Sanford Boye, Atsena has a licensing, research and manufacturing collaboration with the University of Florida and has offices in Boston, MA and North Carolinas Research Triangle, environments rich in gene therapy expertise. For more information, please visit atsenatx.com.

About Sofinnova InvestmentsSince our founding in 1974, Sofinnova has been active in life science investing. We are a clinical-stage biopharmaceutical investment firm with approximately $2.3B in assets under management and committed capital. We invest in both private and public equity of therapeutics-focused companies. Our goal is to actively partner with entrepreneurs in both the U.S. and Europe, across all stages of company formation. From drug development and navigating the regulatory process to company building and IPO, we strive to be collaborative, meaningful board members, and excellent partners at every level. We seek to build world class companies that aspire to dramatically improve the current state of medical care today and ultimately, the lives of patients. Sofinnova has expertise investing in gene therapy companies, including investments in Spark, which developed the first approved gene therapy, Akouos, and Audentes, and Xylocor. For more information, please visit http://www.sofinnova.com.

About Abingworth Abingworth is a leading transatlantic life sciences investment firm. Abingworth helps transform cutting-edge science into novel medicines by providing capital and expertise to top caliber management teams building world-class companies. Since 1973, Abingworth has invested in approximately 168 life science companies, leading to more than 44 M&A/exits and close to 70 IPOs. Our therapeutic focused investments fall into 3 categories: seed and early-stage, development stage, and clinical co-development. Abingworth supports its portfolio companies with a team of experienced professionals at offices in London, Menlo Park (California) and Boston. For more information, visit abingworth.com.

About Lightstone VenturesLightstone Ventures is a leading venture capital firm investing in therapeutic-oriented companies across the life science spectrum, from breakthrough medical devices to novel drugs and biopharmaceuticals. Founded in 2012, Lightstone has been part of many successful new ventures from inception through commercialization and plays a critical role guiding and building successful healthcare companies. With a proven strategy and global footprint, the Lightstone team has been involved in several of the largest venture-backed life science exits over the last decade including: ALX Oncology, Acceleron, Ardian, Calithera, Claret Medical, Disarm, MicroVention, Nimbus, Plexxikon, Portola, Promedior, Proteolix, Ra Pharma, Tizona, Twelve and Zeltiq. For more information, visithttps://www.lightstonevc.com.

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Atsena Therapeutics Raises $55 Million Series A Financing to Advance LCA1 Gene Therapy Clinical Program, Two Preclinical Assets, and Novel Capsid...

When did you first start using AAV vectors in your gene therapy work?

It came about 10 years ago when I was helping the Gates Foundation develop an approach for preventing HIV. Any attempt to use a traditional vaccine, where you inject a component of the virus to activate the immune system to develop proteins such as antibodies, had been challenging for HIV. Regardless of what you used to immunizebecause the virus changed so muchmost of it would escape. Once the field realized that, we started to look at other approaches, and it turns out its possible in the lab to engineer an antibody that could be effective against many types of HIV.

HIV represents a different type of pandemic than COVID-19. When did you turn to AAV vectors as a potential approach for other kinds of pandemics?

About eight years ago I started thinking about this as a countermeasure for a pandemic. The pandemics that we worry about are primarily transmitted through a respiratory route. If it were direct contact like Ebola virus, its not as dangerous because you can avoid touching one another. But if you cant even be in the same room, thats a problem.

Respiratory viruses enter our body through the nose and throat. Thats how we get infected. We proposed delivering the vector through a nasal mist or spray to engineer the cells that line the nose and throat to express the antibody. If you can localize this at that site to prevent the virus from going farther, then you dont need the whole body to express the antibodies.

The antibodies youre using, called casirivimab and imdevimab, are monoclonal antibodies, meaning they were created in a lab. Can you describe how they work?

Regeneron developed these. Theyre highly active and potent against SARS-CoV-2. For treatment, antibodies can be useful. If youre starting to get sick, you get an infusion or two of the antibodies and then you dont get sicker. But what do you do with 99% of the population who isnt sick and never gets sick? Our idea was to use an AAV vector expressing the antibodies to engineer someones cells to produce the antibodies. If we do this right, the expression could go on for a long period of time. Its a one-time vector infusion.

We were able to show in animal models that an AAV sprayed into the nose that expresses an antibody is effective against flu virus that causes respiratory diseases and has the potential to cause a pandemic. The treated animals were completely protected when exposed to flu virus. Its all about having the right antibody and then engineering a delivery system to have this blockage. We call it a bioshield. It could be a way to stop COVID-19 in its tracks.

Would this approach replace COVID-19 vaccines or be used in conjunction with them?

Theoretically, it could be used in place of a vaccine, but I suspect that traditional vaccines are going to succeed for a lot of people. We see our approach being deployed in individuals for which traditional vaccines may not work as well, patients with diseases that compromise their immune system such as cancer, patients who are on immune-modulating drugs, or even the elderly.

Early data seem to suggest that the elderly have some level of response to the active COVID-19 vaccine, but, like with many other vaccines, older people dont mount the same immune response as those who are younger. That said, I dont see any reason why receiving a traditional vaccine would preclude one from using our nasal spray because they do two different things.

The other possibility is that the COVID-19 vaccines we have become less effective because the virus changes. I dont think this will happen, and I hope it doesnt, but, if it does, the question becomes, Would the antibodies that Regeneron created become a backup? When we roll out an active vaccine based on a single spike protein into large populations, it creates pressure on the SARS-CoV-2 to change and potentially become resistant. I hope a variant doesnt emerge, but I do think it behooves us to have some redundancy in place to squelch a potential second wave due to resistant coronaviruses.

What is your projected timeline?

We are conducting one final experiment over the holiday break and in early January before we submit our request to the FDA for clinical trials. Weve had discussions with the FDA and have already done some of the initial testing, including safety testing in nonhuman primates, as well as preparing to manufacture the product. Conducting this in the Gene Therapy Program is beneficial since we are comfortable with AAV vectors and moving them into clinical trials. We support up to eight traditional AAV gene therapy programs a year, and we have the staff and technology to move pretty quickly.

If we get the go in January, I think our technology could contribute to the global response in eliminating COVID-19. And you have to understand, until we eliminate it globally, we havent actually eliminated it.

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Repurposing a proven gene therapy approach to treat, prevent COVID-19 - Penn Today

San Diego-based Locanabio secured $100 million in a Series B financing round that will be used to advance the companys portfolio of novel RNA-targeted gene therapies for neurodegenerative, neuromuscular and retinal diseases.

The funding will support pre-clinical and clinical development of its gene therapy treatments for diseases such as Huntington's disease, myotonic dystrophy type 1, genetic forms of amyotrophic lateral sclerosis and retinal disease, the company said.

Locanabio has a unique approach to gene therapy. The company has combined two validated gene therapy and RNA modifications to treat diseases. Locanabio uses a gene therapy vector to deliver an RNA-targeting protein tipped with an RNA-modifying enzyme. Through targeting RNA, the company said its approach avoids the risk of off-target effects in DNA and is suited to address many diseases linked to dysfunctional processing of RNA.

The $100 Million Series B builds on $55 million the company secured in a Series A last year. Chief Executive Officer Jim Burns, who joined Locanabio one year ago, said the financing round will allow the company to advance several of the companys most promising programs into IND-enabling studies in 2021. The financing will also allow the company to continue to advance its RNA-targeting platform, which has the potential to be a major new advance in medicine that can bring hope to patients with many devastating genetic diseases, Burns said.

While all of Locanabios assets are still in the research phase, its most advanced is a therapy for myotonic dystrophy type 1 (DM1), a genetic neuromuscular disorder caused by a mutation in the DMPK gene that results in trinucleotide (CUG) repeat expansion in the expressed RNA. Locanabios DM1 program targets and destroys the toxic CUG repeats, according to company information. Earlier this year, as BioSpace previously reported, Locanabio published a paper demonstrating the benefits of its technology as a potential one-time treatment of DM1.

The financing round was led by Vida Ventures LLC with participation from RA Capital Management, Invus, Acuta Capital Partners, an investment fund associated with SVB Leerink Prior Locanabio investors ARCH Venture Partners, Temasek, Lightstone Ventures, UCB Ventures and GV, also participated in the financing round.

"We are pleased that a team of highly sophisticated investors led by Vida Ventures has joined in this financing round, further validating our progress in research and the significant potential of our unique RNA-targeting platform, Burns said in a statement.

With the Series B, Rajul Jain, director of Vida Ventures, joined Locanabio's board of directors. Before Vida Ventures, Jain served on the executive team and headed development for Kite Pharma and was previously global development lead for Amgen.

The unique approach in RNA targeting using gene therapy to deliver RNA binding proteins developed by Locanabio represents the next frontier of genetic medicine with the ability to target the root cause of a range of genetic diseases, Jain said in a statement. They have built a strong management team to execute this bold vision and we are proud to support them.

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Locanabio Raises $100 Million to Advance RNA-Targeted Gene Therapies - BioSpace

Gene Therapy in Oncology Market forecast to 2028

The Global Gene Therapy in Oncology Market report provides information about the Global industry, including valuable facts and figures. This research study explores the Global Market in detail such as industry chain structures, raw material suppliers, with manufacturing The Gene Therapy in Oncology Sales market examines the primary segments of the scale of the market. This intelligent study provides historical data from 2015 alongside a forecast from 2021 to 2028.

This report contains a thorough analysis of the pre and post pandemic market scenarios. This report covers all the recent development and changes recorded during the COVID-19 outbreak.

Results of the recent scientific undertakings towards the development of new Gene Therapy in Oncology products have been studied. Nevertheless, the factors affecting the leading industry players to adopt synthetic sourcing of the market products have also been studied in this statistical surveying report. The conclusions provided in this report are of great value for the leading industry players. Every organization partaking in the global production of the Gene Therapy in Oncology market products have been mentioned in this report, in order to study the insights on cost-effective manufacturing methods, competitive landscape, and new avenues for applications.

Get Sample Report: https://www.marketresearchupdate.com/sample/29175

Top Key Players of the Market:Bristol-Myers Squibb, Cold Genesys, Advantagene, Amgen, AstraZeneca, Bio-Path Holdings, CRISPR Therapeutics, Editas Medicine, Geron Corp, Idera Pharmaceuticals, Intellia Therapeutics, Johnson & Johnson, Marsala Biotech, Merck, Mologen AG, Oncolytics Biotech, Oncosec, Oncotelic, Shenzhen SiBiono GeneTech, Sillajen Biotherapeutics, Tocagen, UniQure, Ziopharm Oncology

Types covered in this report are: Ex Vivo, In Vivo

Applications covered in this report are: Hospitals, Diagnostics Centers, Research Institutes

With the present market standards revealed, the market research report has also illustrated the latest strategic developments and patterns of the market players in an unbiased manner. The report serves as a presumptive business document that can help the purchasers in the global market plan their next courses towards the position of the markets future.

Check Discount on Gene Therapy in Oncology Market report @ https://www.marketresearchupdate.com/discount/29175

Regional Analysis For Gene Therapy in OncologyMarket

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

Why B2B Companies Worldwide Rely on us to Grow and Sustain Revenues:

This report provides:

Get Full Report @ https://www.marketresearchupdate.com/industry-growth/Gene-Therapy-in-Oncology-Market-29175

In the end, the Gene Therapy in Oncology Market report includes investment come analysis and development trend analysis. The present and future opportunities of the fastest growing international industry segments are coated throughout this report. This report additionally presents product specification, manufacturing method, and product cost structure, and price structure.

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Technical Report on Gene Therapy in Oncology Market 2021 - LionLowdown

These life sciences companies can officially take cash off their Christmas listsafter last weeks bounty.

Certara

Thisbiosimulationcompany took in the second largest life sciences IPO of the year raking in a whopping$668 million. Selling 29.1 million shares at $23 eachput them in at a 19% increase of their original aim.Certara partners with biotech and pharmaceutical companies to accelerate drug development. According to their website, 90% of companies that received new drug approvals by the FDA since 2014 usedCertaras software or services.

AbCellera

AbCellerasdiscovery of the COVID-19 antibody used in Eli Lillysbamlanivimabrocketed this Canadian company into worldwide recognition.Joining the Nasdaq was a natural next step.Themonoclonal antibodywas the first approved by the FDA for the treatment of COVID-19.Originally prepping for a$391 million IPO,AbCelleraupped its offering to 24.15 million shares at $20 per share forexpected proceedsof$483 million, a 24% increase.

Tempus

Mega-raiser Tempus took in another$200 millionin a Series G-2 financing round, bringing their total lifetime raise to $1.05 billion.Currently employing around 1,500, the precision medicine company will use the funds to expand operations and expand to other disease areas includinginfectiousdiseases, depression and cardiology.Tempus AI platform analyzes multi-modal data across major disease types to look for therapeutically relevant insights.

4D Molecular Therapeutics

Offering 1.4 million more shares than planned, 4D raised 23% more, bringing their IPO toraise to$193 million.4D is in a collaboration with pharma giant Roche and has support from Pfizer as well, with these factors adding to the interest of its upsized IPO.The companys target is on both rare and large market diseases, including patient populations that other gene therapies arent able to address.

Locanabio

Building on last years$55 millionraise, San Diego-basedLocanabiosecured$100 millionthis week in a Series B financing round. The funds will be used to advance the companys portfolio of RNA-targeted gene therapies for neurodegenerative, neuromuscular and retinal diseases.Locanabiosunique approach combines gene therapy and RNA modifications to treat disease. Using a gene therapy vector, the treatments deliver RNA-targeting protein tipped with an RNA-modifying enzyme with the potential to treat many diseases linked to the dysfunctional processing of RNA.

Nanobiotix

This French nanoparticle drug developer sold its shares at the low point of their target range, $13.50, but still raked in$99 millionfor their Nasdaq debut.Nanobiotixsproprietary technology, NBTXR3 is a first-in-classradioenhancerto work across solidtumors, enhancing radiotherapy efficacy and producingan immune response with just oneinjection into the tumor. The treatment is currently intwo Phase II studiesfor patients with head and neck cancer.

Reneo Pharmaceuticals

With a focus on genetic mitochondrial diseases, Reneos Series B brought in$95 millionin a financing round led by Novo Ventures andAbingworth.Reneos lead candidate, REN001,has completed an open label safety and tolerability study in patients with primary mitochondrial myopathies. The funds from this raise will take REN001througha Phase II trial.The compoundworks to improve cellular energy metabolism by enhancingmitochondrial function and potentially increasing the number of mitochondria.

Faze Medicines

Biomolecular condensates have been around fordecades, but haverecently begun to gain traction in the biopharma world. Faze is the third company this year to snag investment cash in pursuit of this target. The$81 millionSeriesA will go into the preclinical research in two focus areas:amyotrophic lateral sclerosis (ALS) and myotonic dystrophy type 1 (DM1). The remaining funds will be used to research condensate biology in other disease areas. Faze intends to utilize screening and proteomics techniques to identify proteins that are components of disease-causing condensates.

Rani Therapeutics

This oral biologicscompany brought in$69 millionin a Series E. Looking to transform thehealthcare market, Ranis technology converts injectable drugs into pills. The funds will accelerate the companys internal pipeline of drugs to the clinic and scale up manufacturing."TheRaniPill has the potential to transform major markets where patients must endure frequent and often painful injections," saidMir Imran, Chairman, CEO and founder of Rani Therapeutics. "With this breakthrough platform, capable of creating orally available therapeutic antibodies, peptides, and proteins, we could impact millions of patients worldwide."

Vigil Neuroscience

Launching with a$50 millionSeries A, Vigil is one of many newbiotechssetting out to fight neurodegenerative disease in 2021. The company is developing a pipeline of precision-based therapies to combat both rare and common neurodegenerative diseases by restoring the vigilance of microglia.Atlas cofounded, seeded and incubated Vigil, with pre-clinical stage assets in-licensed fromAmgen Inc.,which will remain a key shareholder.

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Biopharma Money on the Move: December 9-15 - BioSpace

DUBLIN, Dec. 17, 2020 /PRNewswire/ -- The "Gene Expression Market By Product And Services, By Capacity, By Application, And Segment Forecasts To 2027" report has been added to ResearchAndMarkets.com's offering.

Increasing demands for cancer medicines, falling cost of sequencing procedures, and a rise in demand for personalized medicines are key factors contributing to the high CAGR of the gene expression market during the forecast period.

The Global Gene Expression Market is expected to reach USD 6.78 billion by the year 2027, in terms of value at a CAGR of 8.1% over the forecast period. Gene expression promises to tap into a previously unexplored segment in the vast and burgeoning genetic engineering industry.

An increase in investments towards technological advancements and a rise in healthcare expenditure are estimated to shape the growth of the gene expression market. Drug discovery & development and increased demand for personalized medicine in chronic diseases, such as cancer, would be the most lucrative applications for gene expression analysis in the forecast period. Application of gene expression in clinical diagnostics, on the other hand, will reflect a moderate growth throughout the analysis period. Moreover, the falling costs of sequencing have facilitated the integration of genomic sequencing into medicine. With the increased availability and lowering costs of DNA technologies, gene expression has become a more readily used tool indispensable in drug discovery and development. Many companies and educational institutions are collaborating to make gene expression publicly accessible through databases, such as the Connectivity Map (CMap), Library of Integrated Network-based Cellular Signatures (LINCS), and the Tox 21 project.

Further key findings from the report suggest:

Key Topics Covered:

Chapter 1. Market Synopsis

Chapter 2. Executive Summary

Chapter 3. Indicative Metrics

Chapter 4. Gene Expression Market Segmentation & Impact Analysis

Chapter 5. Gene Expression Market By Product and Services Insights & Trends

Chapter 6. Gene Expression Market By Capacity Insights & Trends

Chapter 7. Gene Expression Market By Application Insights & Trends

Chapter 8. Gene Expression Market Regional Outlook

Chapter 9. Competitive Landscape

Chapter 10. Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/im4bgt

About ResearchAndMarkets.comResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends.

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Global Gene Expression Market Analysis and Forecasts - A $6.78 Billion Market by 2027 - PRNewswire

Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007;131:86172.

CAS PubMed Article Google Scholar

Takahashi K, Yamanaka S. Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006;126:66376.

CAS PubMed Article Google Scholar

Boland MJ, Hazen JL, Nazor KL, Rodriguez AR, Gifford W, Martin G, et al. Adult mice generated from induced pluripotent stem cells. Nature. 2009;461:914.

CAS PubMed Article Google Scholar

Kang L, Wang J, Zhang Y, Kou Z, Gao S. iPS cells can support full-term development of tetraploid blastocyst-complemented embryos. Cell Stem Cell. 2009;5:1358.

CAS PubMed Article Google Scholar

Zhao XY, Li W, Lv Z, Liu L, Tong M, Hai T, et al. iPS cells produce viable mice through tetraploid complementation. Nature. 2009;461:8690.

CAS PubMed Article Google Scholar

Shi Y, Inoue H, Wu JC, Yamanaka S. Induced pluripotent stem cell technology: a decade of progress. Nat Rev Drug Discov. 2017;16:11530.

CAS PubMed Article Google Scholar

Hasegawa K, Pomeroy JE, Pera MF. Current technology for the derivation of pluripotent stem cell lines from human embryos. Cell Stem Cell. 2010;6:52131.

CAS PubMed Article Google Scholar

Taylor CJ, Bolton EM, Bradley JA. Immunological considerations for embryonic and induced pluripotent stem cell banking. Philos Trans R Soc Lond Ser B Biol Sci. 2011;366:231222.

CAS Article Google Scholar

Devolder K. To be, or not to be? Are induced pluripotent stem cells potential babies, and does it matter? EMBO Rep. 2009;10:12857.

CAS PubMed PubMed Central Article Google Scholar

Fadel HE. Developments in stem cell research and therapeutic cloning: Islamic ethical positions, a review. Bioethics. 2012;26:12835.

PubMed Article Google Scholar

Abad M, Mosteiro L, Pantoja C, Canamero M, Rayon T, Ors I, et al. Reprogramming in vivo produces teratomas and iPS cells with totipotency features. Nature. 2013;502:3405.

CAS PubMed Article Google Scholar

Knoepfler PS. Deconstructing stem cell tumorigenicity: a roadmap to safe regenerative medicine. Stem Cells. 2009;27:10506.

CAS PubMed PubMed Central Article Google Scholar

Hentze H, Soong PL, Wang ST, Phillips BW, Putti TC, Dunn NR. Teratoma formation by human embryonic stem cells: evaluation of essential parameters for future safety studies. Stem Cell Res. 2009;2:198210.

PubMed Article Google Scholar

Tan Y, Ooi S, Wang L. Immunogenicity and tumorigenicity of pluripotent stem cells and their derivatives: genetic and epigenetic perspectives. Curr Stem Cell Res Ther. 2014;9:6372.

CAS PubMed PubMed Central Article Google Scholar

Simonson OE, Domogatskaya A, Volchkov P, Rodin S. The safety of human pluripotent stem cells in clinical treatment. Ann Med. 2015;47:37080.

PubMed Article Google Scholar

Ayala FJ. Cloning humans? Biological, ethical, and social considerations. Proc Natl Acad Sci U S A. 2015;112:887986.

CAS PubMed PubMed Central Article Google Scholar

Taylor CJ, Peacock S, Chaudhry AN, Bradley JA, Bolton EM. Generating an iPSC bank for HLA-matched tissue transplantation based on known donor and recipient HLA types. Cell Stem Cell. 2012;11:14752.

CAS PubMed Article Google Scholar

Okita K, Matsumura Y, Sato Y, Okada A, Morizane A, Okamoto S, et al. A more efficient method to generate integration-free human iPS cells. Nat Methods. 2011;8:40912.

CAS PubMed Article Google Scholar

Lowry WE, Richter L, Yachechko R, Pyle AD, Tchieu J, Sridharan R, et al. Generation of human induced pluripotent stem cells from dermal fibroblasts. Proc Natl Acad Sci U S A. 2008;105:28838.

CAS PubMed PubMed Central Article Google Scholar

Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, et al. Induced pluripotent stem cell lines derived from human somatic cells. Science. 2007;318:191720.

CAS PubMed Article Google Scholar

Sayed N, Liu C, Wu JC. Translation of human-induced pluripotent stem cells: from clinical trial in a dish to precision medicine. J Am Coll Cardiol. 2016;67:216176.

PubMed PubMed Central Article Google Scholar

Yamanaka S. Induced pluripotent stem cells: past, present, and future. Cell Stem Cell. 2012;10:67884.

CAS PubMed Article Google Scholar

Trounson A, DeWitt ND. Pluripotent stem cells progressing to the clinic. Nat Rev Mol Cell Biol. 2016;17:194200.

CAS PubMed Article Google Scholar

Eguchi T, Kuboki T. Cellular reprogramming using defined factors and microRNAs. Stem Cells Int. 2016. https://doi.org/10.1155/2016/7530942.

Article CAS Google Scholar

Moradi S, Asgari S, Baharvand H. Concise review: harmonies played by microRNAs in cell fate reprogramming. Stem Cells. 2014;32:315.

CAS PubMed Article Google Scholar

Ichida JK, Blanchard J, Lam K, Son EY, Chung JE, Egli D, et al. A small-molecule inhibitor of TGF- signaling replaces Sox2 in reprogramming by inducing Nanog. Cell Stem Cell. 2009;5:491503.

CAS PubMed PubMed Central Article Google Scholar

Huangfu D, Maehr R, Guo W, Eijkelenboom A, Snitow M, Chen AE, et al. Induction of pluripotent stem cells by defined factors is greatly improved by small-molecule compounds. Nat Biotechnol. 2008;26:7957.

CAS PubMed PubMed Central Article Google Scholar

Li Y, Zhang Q, Yin X, Yang W, Du Y, Hou P, et al. Generation of iPSCs from mouse fibroblasts with a single gene, Oct4, and small molecules. Cell Res. 2011;21:196204.

CAS PubMed Article Google Scholar

Hou P, Li Y, Zhang X, Liu C, Guan J, Li H, et al. Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds. Science. 2013;341:6514.

CAS PubMed Article Google Scholar

Moradi S, Sharifi-Zarchi A, Ahmadi A, Mollamohammadi S, Stubenvoll A, Gunther S, et al. Small RNA sequencing reveals Dlk1-Dio3 locus-embedded MicroRNAs as major drivers of ground-state pluripotency. Stem Cell Rep. 2017;9:208196.

CAS Article Google Scholar

Greve TS, Judson RL, Blelloch R. MicroRNA control of mouse and human pluripotent stem cell behavior. Ann Rev Cell Dev Biol. 2013;29:21339.

CAS Article Google Scholar

Moradi S, Braun T, Baharvand H. miR-302b-3p promotes self-renewal properties in leukemia inhibitory factor-withdrawn embryonic stem cells. Cell J. 2018;20:6172.

PubMed Google Scholar

Lee YJ, Ramakrishna S, Chauhan H, Park WS, Hong S-H, Kim K-S. Dissecting microRNA-mediated regulation of stemness, reprogramming, and pluripotency. Cell Regen. 2016;5:2.

Article CAS Google Scholar

Hassani SN, Moradi S, Taleahmad S, Braun T, Baharvand H. Transition of inner cell mass to embryonic stem cells: mechanisms, facts, and hypotheses. Cell Mol Life Sci. 2019;76:87392.

CAS PubMed Article Google Scholar

Zhu S, Li W, Zhou H, Wei W, Ambasudhan R, Lin T, et al. Reprogramming of human primary somatic cells by OCT4 and chemical compounds. Cell Ctem Cell. 2010;7:6515.

CAS Article Google Scholar

Esteban MA, Wang T, Qin B, Yang J, Qin D, Cai J, et al. Vitamin C enhances the generation of mouse and human induced pluripotent stem cells. Cell Ctem Cell. 2010;6:719.

CAS Article Google Scholar

Xie M, Tang S, Li K, Ding S. Pharmacological reprogramming of somatic cells for regenerative medicine. Acc Chem Res. 2017;50:120211.

CAS PubMed Article Google Scholar

Ma X, Kong L, Zhu S. Reprogramming cell fates by small molecules. Protein Cell. 2017;8:32848.

CAS PubMed PubMed Central Article Google Scholar

Yoshioka N, Gros E, Li HR, Kumar S, Deacon DC, Maron C, et al. Efficient generation of human iPSCs by a synthetic self-replicative RNA. Cell Stem Cell. 2013;13:24654.

CAS PubMed Article Google Scholar

Yakubov E, Rechavi G, Rozenblatt S, Givol D. Reprogramming of human fibroblasts to pluripotent stem cells using mRNA of four transcription factors. Biochem Biophys Res Commun. 2010;394:18993.

CAS PubMed Article PubMed Central Google Scholar

Lee AS, Tang C, Rao MS, Weissman IL, Wu JC. Tumorigenicity as a clinical hurdle for pluripotent stem cell therapies. Nat Med. 2013;19:9981004.

CAS PubMed PubMed Central Article Google Scholar

Gore A, Li Z, Fung HL, Young JE, Agarwal S, Antosiewicz-Bourget J, et al. Somatic coding mutations in human induced pluripotent stem cells. Nature. 2011;471:637.

CAS PubMed PubMed Central Article Google Scholar

Mayshar Y, Ben-David U, Lavon N, Biancotti JC, Yakir B, Clark AT, et al. Identification and classification of chromosomal aberrations in human induced pluripotent stem cells. Cell Stem Cell. 2010;7:52131.

CAS PubMed Article PubMed Central Google Scholar

Tompkins JD, Hall C, Chen VC, Li AX, Wu X, Hsu D, et al. Epigenetic stability, adaptability, and reversibility in human embryonic stem cells. Proc Natl Acad Sci U S A. 2012;109:125449.

CAS PubMed PubMed Central Article Google Scholar

Amps K, Andrews PW, Anyfantis G, Armstrong L, Avery S, Baharvand H, et al. Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage. Nat Biotechnol. 2011;29:113244.

CAS PubMed Article PubMed Central Google Scholar

Liang G, Zhang Y. Genetic and epigenetic variations in iPSCs: potential causes and implications for application. Cell Stem Cell. 2013;13:14959.

CAS PubMed PubMed Central Article Google Scholar

Steyer B, Bu Q, Cory E, Jiang K, Duong S, Sinha D, et al. Scarless genome editing of human pluripotent stem cells via transient puromycin selection. Stem Cell Rep. 2018;10:64254.

CAS Article Google Scholar

Giacalone JC, Sharma TP, Burnight ER, Fingert JF, Mullins RF, Stone EM, et al. CRISPR-Cas9-based genome editing of human induced pluripotent stem cells. Curr Protoc Stem Cell Biol. 2018;44:5B7.

PubMed PubMed Central Google Scholar

Zhang XH, Tee LY, Wang XG, Huang QS, Yang SH. Off-target effects in CRISPR/Cas9-mediated genome engineering. Mol Ther Nucleic Acids. 2015;4:e264.

CAS PubMed PubMed Central Article Google Scholar

Guidance for human somatic cell therapy and gene therapy. Hum Gene Ther. 2001;12:30314.

Daley GQ, Hyun I, Apperley JF, Barker RA, Benvenisty N, Bredenoord AL, et al. Setting global standards for stem cell research and clinical translation: the 2016 ISSCR guidelines. Stem Cell Rep. 2016;6:78797.

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Research and therapy with induced pluripotent stem cells ...

Blocking an enzyme linked with inflammation makes it possible for stem cells to repair damaged heart tissue, new research from UC Davis Health scientists shows.

Researchers Phung Thai (left) and Padmini Sirish were part of a research team seeking stem cell solutions to heart failure care.

The enzyme soluble epoxide hydrolase, or sEH is a known factor in lung and joint disease. Now, it is a focus of heart-disease researchers as well.

The authors expect their work will lead to a new and powerful class of compounds that overcome the cell death and muscle thickening associated with heart failure a common outcome of a heart attack or long-term cardiovascular disease.

The study, conducted in mice, is published in Stem Cells Translational Medicine. The work was led by cardiologist Nipavan Chiamvimonvat.

The science of using stem cell treatments for heart disease has been full of promise but little progress, Chiamvimonvat said. The inflammation that accompanies heart disease is simply not conducive to stem cell survival.

Prior studies show that stem cells transplanted to the heart experience significant attrition in a very short period of time.

We think weve found a way to quiet that inflammatory environment, giving stem cells a chance to survive and do the healing work we know they can do, said lead author and cardiovascular medicine researcher Padmini Sirish.

Heart failure occurs when the heart no longer pumps blood efficiently, reducing oxygen throughout the body. Survival is around 45-60% five years after diagnosis. It affects approximately 5.7 million people in the U.S., with annual costs of nearly $30 billion. By 2030, it could affect as many as 9 million people at a cost of nearly $80 billion.

Chiamvimonvat often treats patients with heart failure and has been frustrated by the lack of effective medications for the disease, especially when it progresses to later stages. The best current therapies for end-stage heart failure are surgical heart transplants or mechanical heart pumps.

This research was led by cardiologist Nipavan Chiamvimonvat.

She expects her outcome will lead to a two-part treatment for end-stage heart failure that combines an sEH-blocking compound with stem cell transplantation.

Chiamvimonvat and her team tested that theory in mice using cardiac muscle cells known as cardiomyocytes, which were derived from human-induced pluripotent stem cells (hiPSCs). A hiPSC is a cell taken from any human tissue (usually skin or blood) and genetically modified to behave like an embryonic stem cell. They have the ability to form all cell types.

The specific sEH inhibitor used in the study TPPU was selected based on the work of co-author and cancer researcher Bruce Hammock, whose lab has provided detailed studies of nearly a dozen of the enzyme inhibitors.

The researchers studied six groups of mice with induced heart attacks. A group treated with a combination of the inhibitor and hiPSCs had the best outcomes in terms of increased engraftment and survival of transplanted stem cells. That group also had less heart muscle thickening and improved cardiac function.

Taken together, our data suggests that conditioning hiPSC cardiomyocytes with sEH inhibitors may help the cells to better survive the harsh conditions in the muscle damaged by a heart attack, Hammock said.

Chiamvimonvat and her team will next test the process in a larger research animal model to provide more insights into the beneficial role of TPPU. She also wants to test the process with additional heart diseases, including atrial fibrillation. Her ultimate goal, in collaboration with Hammock, is to launch human clinical trials to test the safety of the treatment.

It is my dream as a clinician and scientist to take the problems I see in the clinic to the lab for solutions that benefit our patients, Chiamvimonvat said. It is only possible because of the incredible strength of our team and the extraordinarily collaborative nature of research at UC Davis.

Additional co-authors were Phung Thai, Jun Yang, Xiao-Dong Zhang, Lu Ren, Ning Li, Valeriy Timofeyev, Kin Sing Lee, Carol Nader, Douglas Rowland, Sergey Yechikov, Svetlana Ganaga, J. Nilas Young and Deborah Lieu, all from UC Davis.

Their work was funded by the American Heart Association, Harold S. Geneen Charitable Trust. Rosenfeld Heart Foundation, U.S. Department of Veterans Affairs and the National Institutes of Health (grants T32HL86350, F32HL149288, K99R00ES024806, R35ES030443, P42ES04699, IR35 ES0443-1, P01AG051443, R01DC015135, R56HL138392, R01HL085727, R01HL085844, R01HL137228 and S10RR033106).

The study, titled Suppression of Inflammation and Fibrosis using Soluble Epoxide Hydrolase Inhibitors Enhances Cardiac Stem Cell-Based Therapy, is available online.

More information about UC Davis Health, including its cardiovascular medicine and stem cell programs, is at health.ucdavis.edu.

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UC Davis researchers find a way to help stem cells work ...

Avery Therapeutics is projected to be one of the first companies in the US to seek approval for a clinical trial using iPSC-derived technology for heart failure. The goal of this collaboration is to develop a new off-the-shelf treatment to improve the quality of life of patients suffering from heart failure, a debilitating disease that affects tens of millions of people worldwide.

The iPSCs are manufactured at I Peace's state-of-the-art GMP facility in Kyoto, Japan, under comprehensive validation programs of the facility, equipment, and processes including donor recruiting, screening, blood draw, iPSC generation, storage, and distribution. I Peace has obtained a US-based independent institutional review board (IRB) approval for its process of donor sourcing for commercial-use iPSCs. The facility is designed to be PMDA and USFDA compliant.

As Avery Therapeutics expects to expand the application of its regenerative medicine technology to various types of heart diseases and beyond, iPSCs are the key enabling technology for quality and future scalability. This agreement provides a solid foundation to improve the welfare of those suffering from diseases through advancement of tissue-engineered therapeutics.

"We are thrilled to announce this collaboration with I Peace. It is a big step forward in the development of novel cell-based therapeutics for unmet medical needs. Through this collaboration, I Peace brings deep iPSC development and manufacturing expertise to enable Avery's proprietary MyCardia cell delivery platform technology. Together we hope to positively impact millions of patients worldwide in the near future," Said Jordan Lancaster, PhD, Avery Therapeutics' CEO.

This agreement reflects an innovative collaboration involving multiple locations internationally and marks a significant milestone for both I Peace, Inc. and Avery Therapeutics to pursue one of the first US clinical trials using iPSC technology in the area of heart diseases. Koji Tanabe, PhD, founder and CEO of I Peace stated: "By combining I Peace's proprietary clinical grade iPSC technology and Avery's tissue engineering technology, we can bring the regenerative medicine dream closer to reality. We are very excited by Avery's technology and look forward to continue working together."

About I Peace, Inc

I Peace, Inc. is a global supplier of clinical and research grade iPSCs. It was founded in 2015 in Palo Alto, California, USA by Dr. Tanabe, who earned his doctorate at Kyoto University under Nobel laureate Dr. Shinya Yamanaka. I Peace's mission is to alleviate the suffering of diseased patients and help healthy people maintain a high quality of life by making cell therapy accessible to all. I Peace's state-of-the-art GMP facility and proprietary manufacturing platform enables the fully-automated mass production of discrete iPSCs from multiple donors in a single room. Increasing the available number of clinical-grade iPSC lines allows I Peace customers to take differentiation propensity into account to select the most appropriate iPSC line for their clinical research at significantly reduced cost. I Peace aims to create iPSCs for every individual that become their stem cell for life.

Founder, CEO: Koji TanabeSince: 2015Head Quarter: Palo Alto, CaliforniaJapan subsidiary: I Peace, Ltd. (Kyoto, Japan)Cell Manufacturing Facility: Kyoto, JapanWeb: https://www.ipeace.com

About Avery Therapeutics

Avery Therapeutics is a company developing advanced therapies for patients suffering from cardiovascular diseases. Avery's lead candidate is an allogeneic tissue engineered cardiac graft, MyCardia in development for treatment of chronic heart failure. Using Avery's proprietary manufacturing process MyCardia can be manufactured at scale, cryopreserved, and shipped ready to use. Avery is leveraging its proprietary tissue platform to pursue other cardiovascular indications. For more information visit: AveryThera.com. Follow Avery Therapeutics on LinkedInand Twitter.Since: 2016Headquarter: Tucson, AZWebsite: https://www.AveryThera.com

SOURCE I Peace, Inc.

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I Peace, Inc. and Avery Therapeutics announce collaboration to bring iPSC derived cell therapy for heart failure to the clinic - PRNewswire

TAMPA, Fla. While health officials and lawmakers continue trying to steer young people away from vaping, the wide variety of enticing flavors added to these products make that a tough task. Although most of the worry over vaping comes from the risk of addiction, lung damage, and threat of switching to conventional cigarettes, a new study finds the flavoring chemicals these products use may be just as harmful as anything else. Researchers from the University of South Florida Health say vaporized flavoring molecules are toxic to the heart and damage the organs ability to beat correctly.

While other studies find that vaping is generally less harmful than smoking traditional tobacco products, the nicotine and other chemicals in e-cigarettes still damages the heart and lungs. Until now however, researchers say the impact of flavoring additives inhaled into the bloodstream remained unclear.

The flavored electronic nicotine delivery systems widely popular among teens and young adults are not harm-free, says principal investigator Dr. Sami Noujaim in a university release. Altogether, our findings in the cells and mice indicate that vaping does interfere with the normal functioning of the heart and can potentially lead to cardiac rhythm disturbances.

Dr. Noujaims study is one of the first to investigate the cardiotoxic effects of flavoring chemicals added to the e-liquids in electronic nicotine delivery systems (ENDS). ENDS include a variety of different vaping products like vape pens, mods, and pods.

Researchers define vaping as inhaling aerosols (tiny droplets) which e-cigarettes create by heating liquid nicotine and solvents like propylene glycol and vegetable glycerin. A vaping devices battery-powered heater converts this liquid into a smoke-like mix, or vapor.

The study tested how three popular e-liquid flavors fruit, cinnamon, and vanilla custard affect cardiac muscle cells (HL-1) of mice. After being exposed to e-vapor in a lab dish, the results reveal all three flavors are toxic to HL-1 cells.

The USF team also examined what happens to cardiac cells grown from human stem cells that are exposed to three types of e-vapors. The first substance containing only solvents interfered with the cells electrical activity and beating rate. The second substance, containing both nicotine and solvents, proved to be even more toxic to the heart cells.

The third substance however, containing nicotine, solvents, and vanilla custard flavoring, caused the most damage to the heart and its ability to spontaneously beat correctly. Researchers also determined that vanilla custard flavoring is the most toxic of the varieties tested.

This experiment told us that the flavoring chemicals added to vaping devices can increase harm beyond what the nicotine alone can do, Dr. Noujaim says.

The study also tested flavored vapings impact on live mice. Researchers implanted each subject with a tiny electrocardiogram device before exposing them to 60 puffs of vanilla-flavored e-vapor five days a week for 10 weeks.

Study authors looked at how this exposure impacted heart rate variability (HRV), which is the change in time intervals between successive heartbeats. The results show that HRV decreased in vaping mice compared to those only exposed to puffs of clean air.

The USF team finds vaping interferes with normal HRV by disrupting the autonomic nervous system and its control over heart rate. Mice exposed to flavored vaping are also more prone to a dangerous heart rhythm problem called ventricular tachycardia.

Researchers say they still have to confirm these results in humans. Dr. Noujaim urges policymakers to continue looking at the growing evidence that vaping is not a particularly safer alternative to smoking.

Our research matters because regulation of the vaping industry is a work in progress, Dr. Noujaim explains. The FDA needs input from the scientific community about all the possible risks of vaping in order to effectively regulate electronic nicotine delivery systems and protect the publics health. At USF Health, in particular, we will continue to examine how vaping may adversely affect cardiac health.

The study appears in the American Journal of Physiology- Heart and Circulatory Physiology.

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Flavors added to vaping devices damage the heart, vanilla custard the most toxic of all - Study Finds

The Covid-19 can damage the heart both directly and indirectly, and lead to complications ranging from inflammation of the heart (myocarditis), injury to heart cells (necrosis), heart rhythm disorders (arrhythmias), heart attack, and muscle dysfunction that can lead to acute or protracted heart failure, experts said.

Covid-19 is a vascular disease that injures heart cells and muscle. It also leads to the formation of blood clots, both in the microvasculature and large vessels, which can block blood supply to the heart, brain and lungs and lead to stroke, heart attack and respiratory failure, said Dr Ravi R Kasliwal, chairman of clinical and preventive cardiology department at Medanta -The Medicity Hospital.

Also Read: Few Covid-19 deaths in Indias old-age homes, survey finds

A US study using MRI found cardiac abnormalities in 78 of 100 patients who had recently recovered from Covid-19, including 12 of 18 asymptomatic patients. Sixty patients had ongoing myocardial inflammation consistent with myocarditis, found the study, which was published in the Journal of American Medical Association Cardiology in July.

Even people with mild disease or no symptoms can develop life-threatening cardiovascular complications. Whats worrying is that this holds true for healthy adults with no pre-existing risk factors, which raise their risk of complications, said Dr Kasliwal, who recommends that everyone who has recovered from Covid-19 be screened for heart damage

Cardiac trouble

Extensive cardiac involvement is what differentiates Sars-CoV-2, the virus that causes Covid-19, from the six other coronaviruses that cause infection in humans, writes cardiologist Dr Eric J Topol, founder, director and professor of molecular medicine at the Scripps Research Translational Institute in La Jolla, California, in the journal Science.

The four human coronaviruses that cause cold-like symptoms have not been associated with heart abnormalities, though there have been isolated reports linking the Middle East Respiratory Syndrome (MERS) caused by MERS-CoV) with myocarditis, and cardiac disease with the Severe Acute Respiratory Syndrome (SARS) caused by Sars-CoV.

Also Read| Extraordinary uncertainties: Harvard prof on Covid-19, impact on mental health

Sars-CoV-2 is structurally different from Sars-CoV. The virus targets the angiotensin-converting enzyme 2 (Ace2) receptor throughout the body, facilitating cell entry by way of its spike protein, along with the cooperation of proteases. The heart is one of the many organs with high expression of Ace2. The affinity of Sars-CoV-2 to Ace2 is significantly greater than that of SARS, according to Dr Topol.

Topol notes the ease with which Sars-CoV-2 infects heart cells derived from induced pluripotent stem cells (iPSCs) in vitro, leading to a distinctive pattern of heart muscle cell fragmentation evident in autopsy reports. Besides directly infecting heart muscle cells, Sars-CoV-2 also enters and infects the endothelial cells that line the blood vessels to the heart and multiple vascular beds, leading to a secondary immune response. This causes blood pressure dysregulation, and activation of a proinflammatory response leading to a cytokine storm, which is a potentially fatal systemic inflammatory syndrome associated with Covid-19.

Persisting problems

Studies have found that injury to heart cells reflected in blood concentrations of a cardiac muscle-specific enzyme called troponin affects at least one in five hospitalised patients and more than half of those with pre-existing heart conditions, which raises the risk of death. Patients with higher troponin amounts also have high markers of inflammation (including C-reactive protein, interleukin-6, ferritin, lactate dehydrogenase), high neutrophil count, and heart dysfunction, all of which heighten immune response.

The heightened systemic inflammatory responses and diminished blood supply because of clotting, endotheliitis (blood vessel inflammation), sepsis, or hypoxemia (oxygen deprivation) because of acute lung infection leads to indirect cardiac damage, said Dr Kasliwal.

The cardiovascular damage associated with Sars-CoV-2 infection can persist beyond recovery. Since the virus affects the heart as much as the respiratory tract, further research is needed to understand why some people are more vulnerable to heart damage than others.

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Covid-19 can have impact on heart too, say experts - Hindustan Times

Over two million babies, children, and adults in the United States are living with congenital heart disease--a range of birth defects affecting the heart's structure or function. Now, researchers at Gladstone Institutes and UC San Francisco (UCSF) have made inroads into understanding how a broad network of genes and proteins go awry in a subset of congenital heart diseases.

"We now have a better understanding of what genes are improperly deployed in some cases of congenital heart disease," says Benoit Bruneau, PhD, director of the Gladstone Institute of Cardiovascular Disease and a senior author of the new study. "Eventually, this might help us get a handle on how to modulate genetic networks to prevent or treat the disease."

Congenital heart disease encompasses a wide variety of heart defects, ranging from mild structural problems that cause no symptoms to severe malformations that disrupt or block the normal flow of blood through the heart. A handful of genetic mutations have been implicated in contributing to congenital heart disease; the first to be identified was in a gene known as TBX5. The TBX5 protein is a transcription factor--it controls the expression of dozens of others genes, giving it far-reaching effects.

Bruneau has spent the last 20 years studying the effect of TBX5 mutations on developing heart cells, mostly conducting research in mice. In the new study published inDevelopmental Cell, he and his colleagues turned instead to human cells, using novel approaches to follow what happens in individual cells when TBX5 is mutated.

"This is really the first time we've been able to study this genetic mutation in a human context," says Bruneau, who is also a professor in the Department of Pediatrics at UCSF. "The mouse heart is a good proxy for the human heart, but it's not exactly the same, so it's important to be able to carry out these experiments in human cells."

The scientists began with human induced pluripotent stem cells (iPS cells), which have been reprogrammed to an embryonic-like state, giving them--like embryonic stem cells--the ability to become nearly every cell type in the body.

Then, Bruneau's group used CRISPR-Cas9 gene-editing technology to mutate TBX5 in the cells and began coaxing the iPS cells to become heart cells. As the cells became more like heart cells, the researchers used a method called single-cell RNA sequencing to track how the TBX5 mutation changed which genes were switched on and off in tens of thousands of individual cells.

The experiment revealed many genes that were expressed at higher or lower levels in cells with mutated TBX5. Importantly, not all cells responded to the TBX5 mutation in the same way; some had drastic changes in gene expression while other were less affected. This diversity, the researchers say, reflects the fact that the heart is composed of many different cell types.

"It makes sense that some are more affected than others, but this is the first experimental data in human cells to show that diversity," says Bruneau.

Bruneau's team then collaborated with computational researchers to analyze how the impacted genes and proteins were related to each other. The new data let them sketch out a complex and interconnected network of molecules that work together during heart development.

"We've not only provided a list of genes that are implicated in congenital heart disease, but we've offered context in terms of how those genes are connected," says Irfan Kathiriya, MD, PhD, a pediatric cardiac anesthesiologist at UCSF Benioff Children's Hospital, an associate professor in the Department of Anesthesia and Perioperative Care at UCSF, a visiting scientist at Gladstone, and the first author of the study.

Several genes fell into known pathways already associated with heart development or congenital heart disease. Some genes were among those directly regulated by TBX5's function as a transcription factor, while others were affected in a less direct way, the study revealed. In addition, many of the altered genes were relevant to heart function in patients with congenital heart disease as they control the rhythm and relaxation of the heart, and defects in these genes are often found together with the structural defects.

The new paper doesn't point toward any individual drug target that can reverse a congenital heart disease after birth, but a better understanding of the network involved in healthy heart formation, as well as congenital heart disease may lead to ways to prevent the defects, the researchers say. In the same way that folate taken by pregnant women is known to help prevent neural tube defects, there may be a compound that can help ensure that the network of genes and proteins related to congenital heart disease stays balanced during embryonic development.

"Our new data reveal that the genes are really all part of one network--complex but singular--which needs to stay balanced during heart development," says Bruneau. "That means if we can figure out a balancing factor that keeps this network functioning, we might be able to help prevent congenital heart defects."

Reference: Kathiriya IS, Rao KS, Iacono G, et al. Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease. Developmental Cell. 2020. doi:10.1016/j.devcel.2020.11.020.

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Network of Genes Involved in Congenital Heart Disease Identified - Technology Networks

The agreement will accelerate the development and availability of new medical and pharmaceutical therapies to improve patients lives

Hamamatsu Photonics UK Ltd and Medical Technologies Innovation Facility (MTIF) are pleased to announce they have entered into a partnership agreement enabling customers the ability to view and utilize Hamamatsus Functional Drug Screening System (FDSS) CELL. This is the first FDSS/CELL to be made available in the UK in this way.

This new collaboration aims to leverage the photonics expertise, novel proprietary technology and applications of Hamamatsu, with the significant medical technology research and development capabilities of MTIF.

This is a high-end specialist piece of equipment utilised in the development of innovative medicines around the world. We are very excited to be able to provide customers with this capability, that complements our own research using this technically superb equipment. Says Professor John Hunt, Head of Strategic Research at MTIF and within Nottingham Trent University.

This partnership provides companies with a unique opportunity to use cutting edge high through-put technology to screen compounds for pharmacological activity. These capabilities are usually unavailable to all but the largest organisations. This collaboration allows organisations of every size the opportunity to accelerate their drug discovery programme. Says Professor Mike Hannay, Managing Director of the Medical Technologies Innovation Facility (MTIF) .

Hamamatsu has a long history in developing cutting edge scientific equipment for the life science market; our FDSS/CELL enables scientists, such as those working at MTIF, to make breakthroughs in the field of drug discovery and compound research. We are really excited about this new partnership between Hamamatsu and the team at MTIF helping to make such advanced instrumentation available to hundreds of potential users throughout the UK research community. Tim Stokes, Managing Director of Hamamatsu Photonics UK Ltd.

The FDSS/CELL is a compact, easy to use screening system that enables monitoring of GPCRs and ion channels for drug discovery and life science research. Screening various compounds at high throughput (96 / 384 well assays) is enabled by fluorescence or luminescence measurements using a highly sensitive Hamamatsu camera, which captures cell dynamics under the same conditions with no time lag between wells. It is also capable of recording changes in electrical potential in iPSC-derived neuronal and cardiac stem cells to gain a better understanding of toxic compound effects.

Through this new technical collaboration, HPUK and MTIF will organically integrate their respective advanced technologies and development capabilities to showcase this novel laboratory screening technology onsite at MTIF in Nottingham, UK.

Hamamatsu Photonics and MTIF aim to benefit the UK life science sector by accelerating the availability of new medical and pharmaceutical therapies. By aligning capabilities and ambitions, the parties will deliver benefit to clients by helping them to successfully navigate the complexities of discovering drug and cell therapy candidates.

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Industry News: Hamamatsu Photonics UK Ltd and the Medical Technologies Innovation Facility enter into a partnership agreement - SelectScience