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Cicely, Cloris, and two paths to Hollywood immortality – The Boston Globe

Posted on February 7, 2021 by Danzig

In remembrances of Cicely Tyson and Cloris Leachman, two acting titans who died last week, one couldnt help but notice parallels between their careers.

In the early 1970s when they first achieved national acclaim, both were already in their mid-40s. Leachman won an Academy Award in 1972 for her supporting role in The Last Picture Show. That same year, Tyson starred in Sounder, becoming only the second Black woman nominated for a best-actress Oscar.

Both also enjoyed success on television Leachman on The Mary Tyler Moore Show and, later, her own spinoff series, Phyllis. Tyson soared in The Autobiography of Miss Jane Pittman and Roots. At 80, Leachman won an Emmy, her eighth, for Malcolm in the Middle. Tyson, also a multiple Emmy winner, made a celebrated return to Broadway in The Trip to Bountiful, winning a Tony when she was 88. And each continued to work into their 90s.

Yet theres a jarring difference. On the Internet Movie Database, Leachman has 287 credits while Tyson has 94, although their career longevity was roughly the same. Of course Leachman, as a white actress, always had more opportunities. Tyson could have worked more, but instead she chose only those roles that exalted the emotional complexity of Black people, especially Black women.

I made up my mind that I could not afford the luxury of just being an actress, and I would use my career as my platform, Tyson told CBS This Morning cohost Gayle King in one of her last interviews. She was promoting her autobiography, Just as I Am, written with Michelle Burford, where she explains the promise she made to herself.

As an artist with the privilege of the spotlight, I felt an enormous responsibility to use that forum as a force for good, as a place from which to display the full spectrum of our humanity, Tyson wrote in the book, which was released two days before her death. My art had to both mirror the times and propel them forward. I was determined to do all I could to alter the narrative about Black people to change the way Black women in particular were perceived, by reflecting our dignity.

Like Lena Horne, who years earlier refused to accept roles she found demeaning, this meant that Tyson often found meaningful work scarce. If Hollywood refused to acknowledge the depth of Black lives, that would be the industrys shame. Tyson would not perpetuate its lies for more money or greater fame.

Still, I wonder what else Tyson might have given us if allowed the breadth of opportunities Leachman enjoyed. (In my casting director fantasies, I long imagined Tyson playing political trailblazer Shirley Chisholm, the first Black woman elected to Congress.)

In her career, Leachman could move from the drama of a depressed woman having an affair with a much younger man in The Last Picture Show, to the narcissistic and neurotic Phyllis Lindstrom on The Mary Tyler Moore Show, to the hilarious Frau Blcher in Young Frankenstein. Her range was inexhaustible.

The same could be said of Tyson, who also carried the burden of correcting this nations disgraceful image of Black people, one very much reinforced by popular media. To be clear, I doubt she saw that weight on her petite shoulders as a burden at all. It was the cost she willingly paid for her time on this earth. Thats a choice many Black people confront throughout their lives whether to prostrate themselves for white acceptance or create a life where they can lift their people as they climb.

From Coretta Scott King to Harriet Tubman to a sharecropper fighting to save her family from the ravages of the Depression and racism, Tyson excelled in playing tenacious, undefeated Black women. She held up a mirror to her community, and what we saw reflected was beauty, substance, and self-respect. For more than six decades, Tyson refused to stand in a spotlight that shone on her alone.

Both Leachman and Tyson are icons. One will be remembered for finding that distinctive spark in every part she played. Tysons greatest role was her sacred belief that what was best for her culture would be best for her career. A love of Blackness was her true compass, and with it she defied ignorance, saw light in desolation, and traced a path from our broken places to glory and grace.

Rene Graham can be reached at renee.graham@globe.com. Follow her on Twitter @reneeygraham.

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Cicely, Cloris, and two paths to Hollywood immortality - The Boston Globe

Human evolutionary genetics – Wikipedia

Posted on February 7, 2021 by Danzig

study of differences between human genomes

Human evolutionary genetics studies how one human genome differs from another human genome, the evolutionary past that gave rise to the human genome, and its current effects. Differences between genomes have anthropological, medical, historical and forensic implications and applications. Genetic data can provide important insights into human evolution.

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Biologists classify humans, along with only a few other species, as great apes (species in the family Hominidae). The living Hominidae include two distinct species of chimpanzee (the bonobo, Pan paniscus, and the common chimpanzee, Pan troglodytes), two species of gorilla (the western gorilla, Gorilla gorilla, and the eastern gorilla, Gorilla graueri), and two species of orangutan (the Bornean orangutan, Pongo pygmaeus, and the Sumatran orangutan, Pongo abelii). The great apes with the family Hylobatidae of gibbons form the superfamily Hominoidea of apes.

Apes, in turn, belong to the primate order (>400 species), along with the Old World monkeys, the New World monkeys, and others. Data from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) indicate that primates belong to the group of Euarchontoglires, together with Rodentia, Lagomorpha, Dermoptera, and Scandentia.[1] This is further supported by Alu-like short interspersed nuclear elements (SINEs) which have been found only in members of the Euarchontoglires.[2]

A phylogenetic tree is usually derived from DNA or protein sequences from populations. Often, mitochondrial DNA or Y chromosome sequences are used to study ancient human demographics. These single-locus sources of DNA do not recombine and are almost always inherited from a single parent, with only one known exception in mtDNA.[3] Individuals from closer geographic regions generally tend to be more similar than individuals from regions farther away. Distance on a phylogenetic tree can be used approximately to indicate:

The separation of humans from their closest relatives, the non-human apes (chimpanzees and gorillas), has been studied extensively for more than a century. Five major questions have been addressed:

As discussed before, different parts of the genome show different sequence divergence between different hominoids. It has also been shown that the sequence divergence between DNA from humans and chimpanzees varies greatly. For example, the sequence divergence varies between 0% to 2.66% between non-coding, non-repetitive genomic regions of humans and chimpanzees.[8] The percentage of nucleotides in the human genome (hg38) that had one-to-one exact matches in the chimpanzee genome (pantro6) was 84.38%. Additionally gene trees, generated by comparative analysis of DNA segments, do not always fit the species tree. Summing up:

The divergence time of humans from other apes is of great interest. One of the first molecular studies, published in 1967 measured immunological distances (IDs) between different primates.[10] Basically the study measured the strength of immunological response that an antigen from one species (human albumin) induces in the immune system of another species (human, chimpanzee, gorilla and Old World monkeys). Closely related species should have similar antigens and therefore weaker immunological response to each other's antigens. The immunological response of a species to its own antigens (e.g. human to human) was set to be 1.

The ID between humans and gorillas was determined to be 1.09, that between humans and chimpanzees was determined as 1.14. However the distance to six different Old World monkeys was on average 2.46, indicating that the African apes are more closely related to humans than to monkeys. The authors consider the divergence time between Old World monkeys and hominoids to be 30 million years ago (MYA), based on fossil data, and the immunological distance was considered to grow at a constant rate. They concluded that divergence time of humans and the African apes to be roughly ~5 MYA. That was a surprising result. Most scientists at that time thought that humans and great apes diverged much earlier (>15 MYA).

The gorilla was, in ID terms, closer to human than to chimpanzees; however, the difference was so slight that the trichotomy could not be resolved with certainty. Later studies based on molecular genetics were able to resolve the trichotomy: chimpanzees are phylogenetically closer to humans than to gorillas. However, some divergence times estimated later (using much more sophisticated methods in molecular genetics) do not substantially differ from the very first estimate in 1967, but a recent paper[11] puts it at 1114 MYA.

Current methods to determine divergence times use DNA sequence alignments and molecular clocks. Usually the molecular clock is calibrated assuming that the orangutan split from the African apes (including humans) 12-16 MYA. Some studies also include some old world monkeys and set the divergence time of them from hominoids to 25-30 MYA. Both calibration points are based on very little fossil data and have been criticized.[12]

If these dates are revised, the divergence times estimated from molecular data will change as well. However, the relative divergence times are unlikely to change. Even if we can't tell absolute divergence times exactly, we can be pretty sure that the divergence time between chimpanzees and humans is about sixfold shorter than between chimpanzees (or humans) and monkeys.

One study (Takahata et al., 1995) used 15 DNA sequences from different regions of the genome from human and chimpanzee and 7 DNA sequences from human, chimpanzee and gorilla.[13] They determined that chimpanzees are more closely related to humans than gorillas. Using various statistical methods, they estimated the divergence time human-chimp to be 4.7 MYA and the divergence time between gorillas and humans (and chimps) to be 7.2 MYA.

Additionally they estimated the effective population size of the common ancestor of humans and chimpanzees to be ~100,000. This was somewhat surprising since the present day effective population size of humans is estimated to be only ~10,000. If true that means that the human lineage would have experienced an immense decrease of its effective population size (and thus genetic diversity) in its evolution. (see Toba catastrophe theory)

Another study (Chen & Li, 2001) sequenced 53 non-repetitive, intergenic DNA segments from human, chimpanzee, gorilla and orangutan.[8] When the DNA sequences were concatenated to a single long sequence, the generated neighbor-joining tree supported the Homo-Pan clade with 100% bootstrap (that is that humans and chimpanzees are the closest related species of the four). When three species are fairly closely related to each other (like human, chimpanzee and gorilla), the trees obtained from DNA sequence data may not be congruent with the tree that represents the speciation (species tree).

The shorter internodal time span (TIN) the more common are incongruent gene trees. The effective population size (Ne) of the internodal population determines how long genetic lineages are preserved in the population. A higher effective population size causes more incongruent gene trees. Therefore, if the internodal time span is known, the ancestral effective population size of the common ancestor of humans and chimpanzees can be calculated.

When each segment was analyzed individually, 31 supported the Homo-Pan clade, 10 supported the Homo-Gorilla clade, and 12 supported the Pan-Gorilla clade. Using the molecular clock the authors estimated that gorillas split up first 6.2-8.4 MYA and chimpanzees and humans split up 1.6-2.2 million years later (internodal time span) 4.6-6.2 MYA. The internodal time span is useful to estimate the ancestral effective population size of the common ancestor of humans and chimpanzees.

A parsimonious analysis revealed that 24 loci supported the Homo-Pan clade, 7 supported the Homo-Gorilla clade, 2 supported the Pan-Gorilla clade and 20 gave no resolution. Additionally they took 35 protein coding loci from databases. Of these 12 supported the Homo-Pan clade, 3 the Homo-Gorilla clade, 4 the Pan-Gorilla clade and 16 gave no resolution. Therefore, only ~70% of the 52 loci that gave a resolution (33 intergenic, 19 protein coding) support the 'correct' species tree. From the fraction of loci which did not support the species tree and the internodal time span they estimated previously, the effective population of the common ancestor of humans and chimpanzees was estimated to be ~52 000 to 96 000. This value is not as high as that from the first study (Takahata), but still much higher than present day effective population size of humans.

A third study (Yang, 2002) used the same dataset that Chen and Li used but estimated the ancestral effective population of 'only' ~12,000 to 21,000, using a different statistical method.[14]

The alignable sequences within genomes of humans and chimpanzees differ by about 35 million single-nucleotide substitutions. Additionally about 3% of the complete genomes differ by deletions, insertions and duplications.[15]

Since mutation rate is relatively constant, roughly one half of these changes occurred in the human lineage. Only a very tiny fraction of those fixed differences gave rise to the different phenotypes of humans and chimpanzees and finding those is a great challenge. The vast majority of the differences are neutral and do not affect the phenotype.[citation needed]

Molecular evolution may act in different ways, through protein evolution, gene loss, differential gene regulation and RNA evolution. All are thought to have played some part in human evolution.

Many different mutations can inactivate a gene, but few will change its function in a specific way. Inactivation mutations will therefore be readily available for selection to act on. Gene loss could thus be a common mechanism of evolutionary adaptation (the "less-is-more" hypothesis).[16]

80 genes were lost in the human lineage after separation from the last common ancestor with the chimpanzee. 36 of those were for olfactory receptors. Genes involved in chemoreception and immune response are overrepresented.[17] Another study estimated that 86 genes had been lost.[18]

A gene for type I hair keratin was lost in the human lineage. Keratins are a major component of hairs. Humans still have nine functional type I hair keratin genes, but the loss of that particular gene may have caused the thinning of human body hair. Based on the assumption of a constant molecular clock, the study predicts the gene loss occurred relatively recently in human evolutionless than 240 000 years ago, but both the Vindija Neandertal and the high-coverage Denisovan sequence contain the same premature stop codons as modern humans and hence dating should be greater than 750 000 years ago. [19]

Stedman et al. (2004) stated that the loss of the sarcomeric myosin gene MYH16 in the human lineage led to smaller masticatory muscles. They estimated that the mutation that led to the inactivation (a two base pair deletion) occurred 2.4 million years ago, predating the appearance of Homo ergaster/erectus in Africa. The period that followed was marked by a strong increase in cranial capacity, promoting speculation that the loss of the gene may have removed an evolutionary constraint on brain size in the genus Homo.[20]

Another estimate for the loss of the MYH16 gene is 5.3 million years ago, long before Homo appeared.[21]

Segmental duplications (SDs or LCRs) have had roles in creating new primate genes and shaping human genetic variation.

When the human genome was compared to the genomes of five comparison primate species, including the chimpanzee, gorilla, orangutan, gibbon, and macaque, it was found that there are approximately 20,000 human-specific insertions believed to be regulatory. While most insertions appear to be fitness neutral, a small amount have been identified in positively selected genes showing associations to neural phenotypes and some relating to dental and sensory perception-related phenotypes. These findings hint at the seemingly important role of human-specific insertions in the recent evolution of humans.[22]

Human accelerated regions are areas of the genome that differ between humans and chimpanzees to a greater extent than can be explained by genetic drift over the time since the two species shared a common ancestor. These regions show signs of being subject to natural selection, leading to the evolution of distinctly human traits. Two examples are HAR1F, which is believed to be related to brain development and HAR2 (a.k.a. HACNS1) that may have played a role in the development of the opposable thumb.

It has also been hypothesized that much of the difference between humans and chimpanzees is attributable to the regulation of gene expression rather than differences in the genes themselves. Analyses of conserved non-coding sequences, which often contain functional and thus positively selected regulatory regions, address this possibility.[23]

When the draft sequence of the common chimpanzee (Pan troglodytes) genome was published in the summer 2005, 2400 million bases (of ~3160 million bases) were sequenced and assembled well enough to be compared to the human genome.[15] 1.23% of this sequenced differed by single-base substitutions. Of this, 1.06% or less was thought to represent fixed differences between the species, with the rest being variant sites in humans or chimpanzees. Another type of difference, called indels (insertions/deletions) accounted for many fewer differences (15% as many), but contributed ~1.5% of unique sequence to each genome, since each insertion or deletion can involve anywhere from one base to millions of bases.[15]

A companion paper examined segmental duplications in the two genomes,[24] whose insertion and deletion into the genome account for much of the indel sequence. They found that a total of 2.7% of euchromatic sequence had been differentially duplicated in one or the other lineage.

The sequence divergence has generally the following pattern: Human-Chimp < Human-Gorilla << Human-Orangutan, highlighting the close kinship between humans and the African apes. Alu elements diverge quickly due to their high frequency of CpG dinucleotides which mutate roughly 10 times more often than the average nucleotide in the genome. The mutation rate is higher in the male germ line, therefore the divergence in the Y chromosomewhich is inherited solely from the fatheris higher than in autosomes. The X chromosome is inherited twice as often through the female germ line as through the male germ line and therefore shows slightly lower sequence divergence. The sequence divergence of the Xq13.3 region is surprisingly low between humans and chimpanzees.[25]

Mutations altering the amino acid sequence of proteins (Ka) are the least common. In fact ~29% of all orthologous proteins are identical between human and chimpanzee. The typical protein differs by only two amino acids.[15]The measures of sequence divergence shown in the table only take the substitutional differences, for example from an A (adenine) to a G (guanine), into account. DNA sequences may however also differ by insertions and deletions (indels) of bases. These are usually stripped from the alignments before the calculation of sequence divergence is performed.

An international group of scientists completed a draft sequence of the Neanderthal genome in May 2010. The results indicate some breeding between modern humans (Homo sapiens) and Neanderthals (Homo neanderthalensis), as the genomes of non-African humans have 14% more in common with Neanderthals than do the genomes of subsaharan Africans. Neanderthals and most modern humans share a lactose-intolerant variant of the lactase gene that encodes an enzyme that is unable to break down lactose in milk after weaning. Modern humans and Neanderthals also share the FOXP2 gene variant associated with brain development and with speech in modern humans, indicating that Neanderthals may have been able to speak. Chimps have two amino acid differences in FOXP2 compared with human and Neanderthal FOXP2.[26][27][28]

H. sapiens is thought to have emerged about 300,000 years ago. It dispersed throughout Africa, and after 70,000 years ago throughout Eurasia and Oceania.A 2009 study identified 14 "ancestral population clusters", the most remote being the San people of Southern Africa.[29][30]

With their rapid expansion throughout different climate zones, and especially with the availability of new food sources with the domestication of cattle and the development of agriculture, human populations have been exposed to significant selective pressures since their dispersal. For example, East Asians have been found to be separated from Europids by a number of concentrated alleles suggestive of selection pressures, including variants of the EDAR, ADH1B, ABCC1, and ALDH2genes.The East Asian types of ADH1B in particular are associated with rice domestication and would thus have arisen after the development of rice cultivation roughly 10,000 years ago.[31] Several phenotypical traits of characteristic of East Asians are due to a single mutation of the EDAR gene, dated to c. 35,000 years ago.[32]

As of 2017[update], the Single Nucleotide Polymorphism Database (dbSNP), which lists SNP and other variants, listed a total of 324 million variants found in sequenced human genomes.[33]Nucleotide diversity, the average proportion of nucleotides that differ between two individuals, is estimated at between 0.1% and 0.4% for contemporary humans (compared to 2% between humans and chimpanzees).[34][35]This corresponds to genome differences at a few million sites; the 1000 Genomes Project similarly found that "a typical [individual] genome differs from the reference human genome at 4.1 million to 5.0 million sites affecting 20 million bases of sequence."[36]

In February 2019, scientists discovered evidence, based on genetics studies using artificial intelligence (AI), that suggest the existence of an unknown human ancestor species, not Neanderthal, Denisovan or human hybrid (like Denny (hybrid hominin)), in the genome of modern humans.[37][38]

In March 2019, Chinese scientists reported inserting the human brain-related MCPH1 gene into laboratory rhesus monkeys, resulting in the transgenic monkeys performing better and answering faster on "short-term memory tests involving matching colors and shapes", compared to control non-transgenic monkeys, according to the researchers.[39][40]

The pillage people: Gene scientists working to crack the Norse code find Scots Vikings all around the globe – The Sunday Post

Posted on February 7, 2021 by Danzig

They sailed the treacherous North Sea in their longboats to reach Scotlands most northern shorelines where the pillaging and settling meant many islanders have a little Viking blood.

Now 1,400 years later their descendants have continued that tradition of intrepid voyage, settling in far flung parts of the world and taking their Norse and Scottish genes with them.

Just how far that gene pool has spread is the unexpected discovery of a major scientific study which is using people whose ancestry stretches back to Scotlands Northern Isles to improve the understanding of major diseases.

When researchers from Edinburgh University asked people with two grandparents from the islands to get in touch for the study, they got replies from as far away as New Zealand, the Canadian Rockies and even Honolulu, Hawaii.

The study, called Viking II, by Jim Wilson, professor of human genetics at Edinburgh Universitys Centre for Global Health Research, is examining the genetic variants in Orkney and Shetland descendants to unlock the mystery of diseases including cancer, heart disease and MS.

The research follows the original Viking Health Study which recruited 2,000 people with at least two grandparents from Orkney, and 2,000 with the same link to Shetland. Now another 4,000 are being enlisted, to bring the total to 8,000. It will allow professor Wilsons team to further develop its research into these major diseases.

He said: We need to look at 4,000 folk who have two grandparents born on the islands. Our global appeal for the grandchildren of at least two Orkney or Shetland grandparents has had a response from more than 3,000 people from places like Canada, Honolulu, South Africa and New Zealand, as well as nearer to home, in Scotland.

Its wonderful to see how far they travelled but each one of them is vital to our research.

People taking part in the study are asked to answer a questionnaire, and also to send a sample of saliva. Orkney and Shetland are the most genetically distinct populations in the whole of Britain and Ireland.

Professor Wilson has previously found that most islanders DNA is predominantly Scottish, but with about 20% traceable to Norwegian ancestors.

He said: We are trying to understand the genetic contribution to cancer and heart conditions by looking at the distinct genetic variant present in their gene pools.

By using distinct or specific gene pools we can look closely at a population to see which inherited health issues go down the generations. Initial evidence shows that some heart anomalies are more common as is a type of cancer caused by the BRCA type 1 gene.

We already know that multiple sclerosis is more common on Orkney. Genetically, I am part Norwegian and part Pictish, the indigenous Scots who clashed with Roman legions as they moved north. My father was from the Fair Isle.

The obvious conclusion is to see the potential of screening for those diseases and head them off at the pass, so to speak.

One of the survey volunteers is former Canadian army munitions expert Douglas Loader, who lives near the Rocky Mountains.

His mother was born and raised on Orkney before working in the British Embassy in Moscow. It was there she met his father, who worked at the Canadian embassy, and they both settled in Canada.

Douglas, 50, from Medicine Hat, Alberta, said: My mother Elizabeth Corse was born in Kirkwall and developed breast cancer and I have prostate cancer which I am told is a related one and is being studied in Viking II. I have always seen myself as Orkney island diaspora but never thought I would ever make a contribution to scientific research.

You can travel thousands of miles and generations from your origins, but your genes will always journey with you.

You will find that there are many of us scattered over the world.

Orkney and Shetland were owned by Norway until 1468 until it was given as a dowry for the Norwegian Queen Margaret, when she married James III of Scotland.

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The pillage people: Gene scientists working to crack the Norse code find Scots Vikings all around the globe - The Sunday Post

The future is here, where are we in Jammu and Kashmir? – Daily Excelsior

Posted on February 7, 2021 by Danzig

PRECISION GENOMICS

Dr. Swarkar SharmaDeoxyribonucleic Acid (DNA) constitutes genome, contains biological instructions to make each species unique and along with the instructions it contains, is inherited from one generation to next generation. This biological information is encoded in fragments of DNA called Genes. To keep things simple in understanding, there are approximately 20,000-25,000 Genes in humans. These individually or in combinations/associations with other regions of genome, as well as interactions with environment, take care of composition and all the functions of the body. Each Gene has primarily two copies and Mother and Father contribute equally, one copy each, that they have inherited from their parents. In this way, transmission of characters from parents to children is controlled (known as heredity). During course of inheritance as well as growth of a body, due to various factors, some changes may arise in DNA and are called mutation or variations. Some of these variations remain restricted to the individual itself (somatic) or are inherited to the next generation (Germline). These variations can be neutral or may have negative or positive impact as they may affect function of a Gene. In addition, as genes have potential to interact with environmental conditions, these variations may effect function of a gene and subsequently expression of the characteristics. When a positive effect, it can be beneficial by helping in adaptation to environment and better survival. However, if negative impact, may result in a disease condition. With this background, to summarize, DNA and its composition may play critical role in defining physical features (called phenotypes), disease predisposition (susceptibility) or resulting in genetic disorder condition, based on how strong the effect of variation is (called penetrance). Thus, this spectrum, like rare monogenic (single gene caused) diseases to complex multifactorial and polygenic (multiple genes and environment) characteristics/disorders, clearly depends on penetrance of these variations.With the exponential development in genomic approaches and advent of Next Generation Sequencing (NGS) and high end computational data analyses (big data in genomics), that has already facilitated screening of whole genome of an Individual in couple of hours itself, new domain in healthcare, Precision Medicine is emerging. With continuous improvement in the methodologies and, development and establishment of baseline datasets, in developed countries it has already secured its place in healthcare in various domains. In India, it is slowly making its way, primarily in Tier 1 cities. Precision Genomics offers healthcare providers important genomic information that can help personalize ones treatment, determine ones risk for certain genetic conditions, and even identify how well one may respond to certain medications and dosages. This helps reduce costs while providing a better experience overall. In addition, it has been observed that incorporation of genomics in healthcare, especially to address rare genetic conditions, has facilitated beyond limits in characterization, identification and therapeutic intervention.It is important to mention that scientific evidences suggest that Indian populations have unique genepool that it has acquired over period of time due to different population specific natural selection scenarios and migrations etc. Over the period of time, due to our social practices, it may have resulted in unique population specific genetic signatures, many of which may be restricted to independent population groups (endogroups: based on religion, caste, language, ethnicity etc.). With upcoming research in the domain, these are being explored and many a such signatures are coming into light. Yet, a lot has to be done keeping in mind huge population diversity of the land and extensive geographical and social distribution of various endogroups countrywide.The population structure of Jammu and Kashmir is also quite unique. J&K is mainly a hilly terrain, so majority of the population groups exist in small geographic pockets throughout the region and until recently these population groups have remained isolated which might have resulted in diverse but conserved gene pool over a period of time, as observed by various studies carried out by our research group. Subsequently, the health hazards and diseases in the region that affect the populations in the region, in addition to the common ones, hugely are different rare disorders, many remain uncharacterized, may be restricted to particular families or populations, yet to be understood and gain attention. In many of such disorders, that are not lethal in early age, individuals remain normal at birth and have disease symptoms later in age that keep on intensifying with advancement of age, sometimes resulting in loss of life. To highlight, geographic isolation and most of the population groups practicing and performing marriages preferentially within particular subgroups, result in high inbreeding. Adding to it, majority of population of Jammu and Kashmir practice consanguinity (i.e. marriage with in the family). It is a known fact that high consanguinity cause high incidence of rare genetic disorders. In light of such population structure in J&K, a high incidence of rare genetic disorders is expected in the region, to the extent, these rare disorders start to appear like an epidemic in isolated areas. Carrying this information to general public is an important component in the maintenance and control of such disorders. It is need of the day that not only population residing in urban areas but remote areas too are educated about genetic disorders as well as practice of high consanguinity especially, in situations when incidence of disorders is reported in families.With this background, Human Genetics Research Group at School of Biotechnology at Shri Mata Vaishno Devi University, Katra, with support from collaborators, has initiated a project called Project JK-DNA. The purpose of the project is to provide an online open access resource with the goal of aggregating and harmonising both Human Exome and Genome sequencing data from population of J&K through its genome sequencing projects (Next Generation Sequencing), published resources or public datasets, and making summary data available for the use of wider scientific community especially medical researchers in J&K and India. HGRG SMVDU has plans to pool NGS datasets, generated with collaborators from Institute of Human Genetics and School of Biotechnology, University of Jammu for better and higher genomic resolution. The portal will also feature various scientific outcomes in the domain, from the region, in simple and laymans terms for the knowledge and awareness of common masses. The project is powered through a J&K startup Biodroid Innovations Pvt ltd and the product series Key2genes.For more details visit http://WWW.JKDNA.IN : The online portal to help understand the genetic makeup of Human Population of Jammu and KashmirAbout HGRG:Human Genetics Research Group (HGRG) is established at School of Biotechnology, Shri Mata Vaishno Devi University Katra, Jammu and Kashmir, India. HGRG team, comprised of researchers with enhanced skill sets, is working in the area Human Evolutionary Genetics, Rare Undiagnosed Genetic Disorders and Complex Genetic disorders in Human population of Jammu and Kashmir. The group has received research grants from various external Funding agencies: DST SERB GoI; UGC GoI, CSIR GoI; National Geographic Society, USA. Group has high impact scientific research publications and patents to their credit.

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The future is here, where are we in Jammu and Kashmir? - Daily Excelsior

FDA Issues More Guidance on Gene and Cell Therapy Products – JD Supra

Posted on February 7, 2021 by Danzig

January was a busy month for the US Food and Drug Administrations precision medicine efforts, as the agency produced guidance on ASO drugs for patients with debilitating or life-threatening genetic disorders and guidance on manufacturing considerations for certain cellular and gene therapy products during the COVID-19 pandemic.

The agency first issued a draft guidance to facilitate the development of individualized antisense oligonucleotide (ASO) drugs for patients with severely debilitating or life-threatening genetic disorders (ASO Guidance). The Food and Drug Administration (FDA) also issued a guidance, with immediate effect, on manufacturing considerations for licensed and investigational cellular and gene therapy products during the COVID-19 public health emergency (Manufacturing Guidance). Sponsors investigating or marketing these products should pay special attention to the discussion in these documents, as FDA outlines its approach to COVID-19 and development considerations with respect to these personalized therapies.

The Manufacturing Guidance supplements FDAs June 2020 guidance on Good Manufacturing Practice Considerations for Responding to COVID-19 Infection in Employees in Drug and Biological Products Manufacturing. However, because cell and gene therapy (CGT) manufacturers may face special challenges, FDA recommends that CGT manufacturers perform risk assessments to identify, evaluate, and mitigate factors that may allow for the transmission of SARS-CoV-2 through CGT products. Any plans should take into account FDAs view that allogeneic products may be associated with a higher risk of infection compared to autologous products.

FDA specifically recommends the following:

As always, any adopted risk assessment and mitigation strategies must be documented and approved by the manufacturers quality unit, should include scientific justification and literature references, and should be submitted to FDA.

Turning away from the current COVID-19 crisis, FDA indicated that it is also looking ahead to the continued advancement of personalized therapies, issuing the ASO Guidance to assist sponsor investigators in the development of individualized ASO products for severely debilitating or life-threatening genetic diseases that are tailored to a patients specific genetic variant. As noted by FDA, the ASO Guidance is targeted to academic investigators, who may be less familiar with FDAs requirements and less experienced in interacting with FDA.

While the specific impetus for this guidance is unclear, assumedly FDA is receiving more inquiries regarding individualized ASO drugs from investigators, patients, or those acting on their behalf. Regardless of the reason, healthcare institutions where ASO products are used should familiarize themselves with FDAs requirements and processes to ensure that any use of an investigational ASO product accords with FDAs regulations. It will also be important that manufacturers supporting the use of ASO products or that later intend to work with ASO product investigators ensure that programs comply with FDAs regulations via contractual agreements and, as appropriate, due diligence.

For these programs, FDA recommends the following:

The ASO Guidance is likely a first step in the development of individualized therapies. As stated by FDA, the agency is optimistic that development of [ASO] individualized drug products may spur gene sequencing that leads to the development of additional individualized drug products. Accordingly, through the ASO Guidance, FDA aims to determine the most effective and efficient way to bring personalized drugs to patients, while ensuring the right risk-benefit balance.

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FDA Issues More Guidance on Gene and Cell Therapy Products - JD Supra

Europe Cell and Gene Therapy Market Size to Reach Revenues of USD 2.9 Billion by 2026 – Arizton – PRNewswire

Posted on February 7, 2021 by Danzig

CHICAGO, Feb. 2, 2021 /PRNewswire/ -- In-depth analysis and data-driven insights on the impact of COVID-19 included in this Europe cell and gene therapy market report.

The Europe cell and gene therapy market is expected to grow at a CAGR of over 23% during the period 20202026.

Key Highlights Offered in the Report:

Key Offerings:

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Europe Cell and Gene Therapy Market Segmentation

Europe Cell and Gene Therapy Market by Product

Europe Cell and Gene Therapy Market by End-user

Europe Cell and Gene Therapy Market by Application

Europe Cell and Gene Therapy Market Dynamics

Cell and gene therapy is revolutionizing the global healthcare segment. Although various new cell and gene therapies are approved, there are various hurdles that limit the penetration of new therapies, such as high cost, multiple regulatory hurdles, and other manufacturing challenges. These cell and gene therapy developers need reliable, efficient, and cost-effective manufacturing services with the flexibility to scale up production as the demand increases. Cell and gene therapy products are very complex, and their manufacturing requires skilled labor, developed infrastructure for limited patients. Such huge investments will affect vendors and contract manufacturing organizations (CMOs) work with companies to overcome these challenges.

Key Drivers and Trends fueling Market Growth:

Europe Cell and Gene Therapy Market Geography

European countries such as Germany, France, the UK, Italy, and Spain play a significant role in the cell and gene therapy market. However, clinical trials and the number of manufacturing facilities are increasing slowly in Europe. Europe has become a major R&D destination for many vendors as the funding for cell and gene therapies is increasing across many European countries. Europe stands next to North America in the global cell and gene therapy market. Initially, Europe led the cell and gene therapy market due to first product approvals. France, Germany, and Italy had a greater contribution globally and in Europe. However, from the past decade, the US has competed and increased its market share globally. Europe stands second in the market, with the increasing prevalence of cancer and rare genetic disorders that are not effectively solved by the conventional therapies are increasing in the region. This increased target population is driving the demand for cell and gene therapy in the region.

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Europe Cell and Gene Therapy Market by Geography

Major Vendors

Other Prominent Vendors

Emerging Investigational Vendors In Europe

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AriztonAdvisory and Intelligence is an innovation and quality-driven firm, which offers cutting-edge research solutions to clients across the world. We excel in providing comprehensive market intelligence reports and advisory and consulting services.

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Europe Cell and Gene Therapy Market Size to Reach Revenues of USD 2.9 Billion by 2026 - Arizton - PRNewswire

AGTC Executives Awarded First Place in the BioProcess International Reader’s Choice Awards, Cell & Gene Therapies Category – GlobeNewswire

Posted on February 7, 2021 by Danzig

Article reflects Companys leadership and innovation in scalable, reproducible manufacture of adeno-associated virus (AAV)-based gene therapies

GAINESVILLE, Fla. and CAMBRIDGE, Mass., Feb. 04, 2021 (GLOBE NEWSWIRE) -- Applied Genetic Technologies Corporation (Nasdaq: AGTC), a biotechnology company focused on developing adeno-associated virus (AAV) based gene therapies for the treatment of rare inherited diseases, announced that Sue Washer, President & Chief Executive Officer and Dave Knop, Vice President of Process Development, have been awarded first place in the BioProcess International (BPI) magazine inaugural Readers Choice Awards program, cell and gene therapies category, for their article, Viral-Vectored Gene Therapies: Harnessing Their Potential Through Scalable, Reproducible Manufacturing Processes.

High-productivity approaches to AAV manufacturing processes, like AGTCs HSV-helper based platform, will be crucial if we are to address the unmet clinical need growing across a variety of indications, said AGTC President and CEO, Sue Washer. There is no question that investing in the manufacturing process is imperative and our early commitment in this area has put AGTC in a strong position with respect to the purity and quality needed for late stage development and commercialization.

Concentrating on articles published from September 2019 through June 2020, and using rankings based on views, engagement, and download rates, BioProcess International identified the four most popular articles within each of its six pillars of bioprocessing coverage. The AGTC authors article received the highest number of votes from BPI readers, who ranked the nominees in terms of their innovativeness, presentability and applicability.

The eBook featuring the first-place article by Washer and Knop, as well as summarized versions of the second- and third-place articles, are available by visiting: https://bioprocessintl.com/wp-content/uploads/2020/11/18-11-eBook-RCA-CellGeneTherapies.pdf.

About AGTCAGTC is a clinical-stage biotechnology company developing genetic therapies for people with rare and debilitating ophthalmic, otologic and central nervous system (CNS) diseases. AGTC is a leader in designing and constructing all critical gene therapy elements and bringing them together to develop customized therapies that address real patient needs. The Companys most advanced clinical programs leverage its best-in-class technology platform to potentially improve vision for patients with an inherited retinal disease. AGTC has active clinical trials in X-linked retinitis pigmentosa (XLRP) and achromatopsia (ACHM CNGB3 & ACHM CNGA3). Its preclinical programs build on the Companys industry-leading AAV manufacturing technology and scientific expertise. AGTC is advancing multiple important pipeline candidates to address substantial unmet clinical need in optogenetics, otology and CNS disorders.

IR/PR CONTACTS:David Carey (IR) or Glenn Silver (PR)Lazar FINN PartnersT: (212) 867-1768 or (646) 871-8485david.carey@finnpartners.com or glenn.silver@finnpartners.com

Corporate Contact:Bill SullivanChief Financial OfficerApplied Genetic Technologies CorporationT: (617) 843-5728bsullivan@agtc.com

Stephen PotterChief Business OfficerApplied Genetic Technologies CorporationT: (617) 413-2754spotter@agtc.com

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AGTC Executives Awarded First Place in the BioProcess International Reader's Choice Awards, Cell & Gene Therapies Category - GlobeNewswire

Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease – BioSpace

Posted on February 7, 2021 by Danzig

First participant dosed in the RESOLUTESM trial, a Phase 1/2 dose-escalation study of SPK-3006

Enrollment of approximately 20 total study participants is ongoing

PHILADELPHIA, Feb. 01, 2021 (GLOBE NEWSWIRE) -- Spark Therapeutics, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY) and a fully integrated, commercial gene therapy company dedicated to challenging the inevitability of genetic disease, today announced the dosing of the first participant in the Phase 1/2 RESOLUTESM trial of SPK-3006, an investigational liver-directed adeno-associated viral (AAV) vector gene therapy for late-onset Pompe disease (LOPD), a rare, inherited lysosomal storage disorder.

Dosing the first participant in the Phase 1/2 RESOLUTE trial of investigational SPK-3006 for late-onset Pompe disease is an important milestone and first step to what we hope will ultimately allow us to bring an innovative gene therapy to these patients, said Gallia G. Levy, M.D., Ph.D., chief medical officer of Spark Therapeutics. We are deeply appreciative of the ongoing collaboration of the Pompe disease community as we continue to enroll participants in this Phase 1/2 study.

The RESOLUTE trial is an open-label Phase 1/2, dose-escalation gene transfer study designed to evaluate the safety, tolerability and efficacy of a single intravenous infusion of investigational SPK-3006, an AAV vector-based gene therapy, developed in collaboration with Genethon, in adults with clinically moderate LOPD currently receiving enzyme replacement therapy. The study is expected to enroll approximately 20 participants receiving the investigational gene therapy in sequential, dose-level cohorts. Additional details are available on ClinicalTrials.gov (NCT04093349).

We are honored to have the first participant dosed in this clinical trial, which we hope will lead us to introduce a novel therapeutic option for patients living with late-onset Pompe disease, said Principal Investigator Tahseen Mozaffar, M.D., University of California Irvine Health.

The International Pompe Association has been proud to collaborate with Spark Therapeutics to enhance the Pompe disease communitys understanding of gene therapy research, said Tiffany House, International Pompe Association Board Chairman. We look forward to the progress in the Phase 1/2 RESOLUTE trial, as well as the ongoing work aimed at developing gene therapies that have the potential to help individuals living with genetic diseases.

Pompe disease is a rare, inherited lysosomal storage disorder. It is a progressive, often life-limiting disease caused by the buildup of a complex sugar, glycogen, in the bodys cells. Mutations in the gene encoding acid alpha-glucosidase (GAA) result in deficiencies of the GAA enzyme and limit the breakdown of glycogen. For patients living with LOPD, the respiratory system, locomotion and maintenance of gait are the most critically impacted. These symptoms commonly result in patients becoming wheelchair bound and requiring respiratory support, which may result in reduced life-expectancy.

About SPK-3006 for Pompe diseaseSPK-3006is an investigational liver-directed AAV gene therapy for the potential treatment of late-onset Pompe disease (LOPD).SPK-3006has been engineered to produce a modified enzyme (secretable GAA) that is produced by the liver, which may result in sustained GAA plasma levels and could potentially provide greater uptake in muscle tissue. The transgene integrates technologies designed at and licensed from Genethon, where the in-vivo proof of concept in pre-clinical models was demonstrated. Spark Therapeutics retains global commercialization rights toSPK-3006.

About Spark Therapeutics AtSpark Therapeutics, a fully integrated, commercial company committed to discovering, developing and delivering gene therapies, we challengethe inevitability of genetic diseases,includingblindness, hemophilia, lysosomal storage disorders and neurodegenerative diseases.We currently have four programs in clinical trials.At Spark, a member of the Roche Group, we see the path to a world where no life is limited by genetic disease. For more information, visit http://www.sparktx.com, and follow us on Twitter and LinkedIn.

Media Contact:Kevin Giordanocommunications@sparktx.com(215) 294-9942

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Spark Therapeutics Announces First Participant Dosed in Phase 1/2 Study of Investigational Gene Therapy for Late-Onset Pompe Disease - BioSpace

The gene therapy market is projected to be worth USD 14.6 billion in 2030, growing at a CAGR of 30%, over the next decade, claims Roots Analysis -…

Posted on February 7, 2021 by Danzig

London, Feb. 02, 2021 (GLOBE NEWSWIRE) -- Roots Analysis has announced the addition of Gene Therapy Market (4th Edition), 2020-2030 report to its list of offerings.

Success of approved gene therapies has resulted in a surge in interest of biopharmaceutical developers in this rapidly evolving domain. Presently, the ability of gene therapies to treat diverse disease indications is considered among the most prominent drivers of this market. In addition, promising clinical results of pipeline candidates are anticipated to draw in more investments to support product development initiatives.

To order this 720+ page report, which features 220+ figures and 375+ tables, please visit this link

Key Market Insights

Around 800 gene therapies are currently being developed across different stages Apart from 10 approved products, most of the aforementioned therapies (65%) are in the early stages of development (discovery / preclinical), while the rest are being evaluated in clinical trials. It is worth mentioning that more than 40% of clinical stage candidates are intended for the treatment of oncological disorders.

Over 65% of innovator companies focused on gene therapy development, are based in North AmericaInterestingly, more than 75 players based in the same region, are start-ups, while over 35 are mid-sized players, and 10 are large and very large firms. Since the majority of gene therapy developers are headquartered in the US, it is considered a key R&D hub for such advanced therapy medicinal products.

There are 400+ registered gene therapy focused clinical trials, worldwideClinical research activity, in terms of number of trials registered, is reported to have increased at a CAGR of 12% during the period 2015-2020. Of the total number of trials, close to 25% have already been completed, and 35% claim to be actively recruiting.

USD 25.4 billion has been invested by both private and public investors, since 2015So far, a significant proportion of the capital raised has been through secondary offerings (USD 12.9 billion). On the other hand, around USD 5 billion was invested by venture capital investors, representing 20% of the total amount.

Close to 20,000 patents have been filed / published related to gene therapies, since 2016Around 30% of the total number of applications were related to gene editing-based therapies, while the remaining were associated with gene therapies. Further, majority of the patent assignees were industry players, however, the contribution of non-industry players in the overall patent filing activity has increased considerably (CAGR of 16%), over the past few years.

There have been several mergers and acquisitions in this market during the period 2015-2019 In fact, M&A activity is reported to have increased at a CAGR of more than 40%. Key drivers of the acquisitions mentioned in the report include, therapeutic area expansion, access to a novel technology / platform, drug class consolidation and drug class expansion.

North America and Europe are anticipated to capture over 90% of the market share, in terms of sales revenues, in 2030In vivo gene therapies currently represent a significant share of the market, and this trend is unlikely to change in the foreseen future, as several such candidates are being evaluated in late stages. In addition, more than 130,000+ patients are projected to use gene therapies in 2030 and the demand for gene therapies is expected to grow at an annualized rate of 29% and 31% during the periods 2020-2025 and 2025-2030, respectively.

To request a sample copy / brochure of this report, please visit this link

Key Questions Answered

The USD 14.6 billion (by 2030) financial opportunity within the gene therapy market has been analyzed across the following segments:

The report features inputs from eminent industry stakeholders, according to whom, gene therapies exhibit the potential to become a promising alternative for the treatment of genetic disorders. The report includes detailed transcripts of discussions held with the following experts:

The research includes brief profiles of key players (listed below) engaged in the development of gene therapies; each profile features an overview of the therapy, current development status, clinical trials and its results (if available), target indication, route of administration, and recent developments (if available).

For additional details, please visit https://www.rootsanalysis.com/reports/view_document/gene-therapies-market/268.html or email sales@rootsanalysis.com

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The gene therapy market is projected to be worth USD 14.6 billion in 2030, growing at a CAGR of 30%, over the next decade, claims Roots Analysis -...

Retinal Gene Therapy Market: Advent of High-end Technologies to Support Development of the Market – BioSpace

Posted on February 7, 2021 by Danzig

Global Retinal Gene Therapy Market: Overview

The retinal gene therapy market is estimated to expand at an exponential growth rate. For the use of gene therapy, retina is considered a highly desirable target as it an irreplaceable part of a body. The global retinal gene therapy market is likely to be influenced by the promise its holds for the treatment of various forms of inherited and non-inherited blindness. Furthermore, this therapy can also be used in the treatment of rare genetic retinal diseases, such as Leber's congenital amaurosis, which is likely to augur well for the development of the global retinal gene therapy market during the forecast period, from 2020 to 2030. It is expected that the global retinal gene therapy market is anticipated to witness the entry of new players, with the presence of promising candidates in the phases of drug approval process.

Read Report Overview - https://www.transparencymarketresearch.com/retinal-gene-therapy-market.html

Type, application, and region are the three important parameters based on which the global retinal gene therapy market has been classified. Such detailed analysis of the market comes with the sole purpose to provide stakeholders with a detailed and clear analysis of the global retinal gene therapy market.

Read Report Overview - https://www.transparencymarketresearch.com/retinal-gene-therapy-market.html

Global Retinal Gene Therapy Market: Notable Developments

One of the important market developments that give a quick view of the dynamics pertaining to the global retinal gene therapy market is mentioned as below:

There is only one player in this global retinal gene therapy market, which is mentioned as below:

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Global Retinal Gene Therapy Market: Key Trends

The global retinal gene therapy market is characterized by the presence of the following restraints, drivers, and opportunities.

Advent of High-end Technologies to Support Development of the Market

Mostly in the cases of inherited retinal diseases, retinal gene therapy is performed. Gene therapy is capable of bettering vision impairment through mutation in RPE65 gene. Luxturna, a recently introduced gene therapy is utilized for the treatment of patients suffering from type 2 Leber's congenital amaurosis. This disease is a form of inherited disease that causes impairment in vision at the time of birth, which leads to a highly progressive degeneration. At present, there are many retinal gene therapy at the clinical trial phase and those are utilizing recombinant viruses. This factor is likely to increase the scope of growth for the global retinal gene therapy market over the period of assessment, from 2020 to 2030.

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In addition to that, the emergence of new market players together with the advent of high-end technological developments is likely to encourage growth of the global retinal gene therapy market during the forecast period. It is estimated that retinal gene therapy is likely to come up as a standard form of treatment for such retina-related diseases.

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Global Retinal Gene Therapy Market: Geographical Analysis

North America is clearly at the forefront of the growth of the global retinal gene therapy market at the very moment. It is estimated that the region will continue to retain its dominance over the period of forecast, from 2020 to 2030. So far, the product that has been approved for use is from a manufacturer from this region. Europe is likely to emerge as another lucrative region in the global retinal gene therapy market over the period of forecast.

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Retinal Gene Therapy Market: Advent of High-end Technologies to Support Development of the Market - BioSpace

Sio Gene Therapies Announces Receipt of $11.6 Million from Closing of the Sale of Arvelle Therapeutics – BioSpace

Posted on February 7, 2021 by Danzig

NEW YORK and RESEARCH TRIANGLE PARK, N.C., Feb. 04, 2021 (GLOBE NEWSWIRE) -- Sio Gene Therapies Inc. (NASDAQ: SIOX), a clinical-stage company focused on developing gene therapies to radically improve the lives of patients with neurodegenerative diseases, announced today that it has received $11.6 million from the closing of the sale of Arvelle Therapeutics to Angelini Pharma. Per the terms of the sale, additional payments to Sio Gene Therapies Inc. are expected over time, including a payment of approximately $4.8 million by mid-2021 upon marketing approval of cenobamate by the European Medicines Agency (EMA).

About Sio Gene Therapies

Sio Gene Therapies combines cutting-edge science with bold imagination to develop genetic medicines that aim to radically improve the lives of patients. Our current pipeline of clinical-stage candidates includes the first potentially curative AAV-based gene therapies for GM1 gangliosidosis and Tay-Sachs/Sandhoff diseases, which are rare and uniformly fatal pediatric conditions caused by single gene deficiencies. We are also expanding the reach of gene therapy to highly prevalent conditions such as Parkinsons disease, which affects millions of patients globally. Led by an experienced team of gene therapy development experts, and supported by collaborations with premier academic, industry and patient advocacy organizations, Sio is focused on accelerating its candidates through clinical trials to liberate patients with debilitating diseases through the transformational power of gene therapies. For more information, visit http://www.siogtx.com.

Forward-Looking Statements

This press release contains forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995 and other federal securities laws. The use of words such as expect and other similar expressions are intended to identify forward-looking statements. For example, all statements Sio makes regarding amounts to be received and income tax liabilities associated with the sale of its stake in Arvelle Therapeutics, as well as the duration of its ability to support its development programs, are forward-looking. All forward-looking statements are based on estimates and assumptions by Sios management that, although Sio believes to be reasonable, are inherently uncertain. All forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially from those that Sio expected. Such risks and uncertainties include, among others, the impact of the Covid-19 pandemic on our operations, the initiation and conduct of preclinical studies and clinical trials; the availability of data from clinical trials; the development of a suspension-based manufacturing process for AXO-Lenti-PD; the scaling up of manufacturing, the expectations for regulatory submissions and approvals; the continued development of our gene therapy product candidates and platforms; Sios scientific approach and general development progress; and the availability or commercial potential of Sios product candidates. These statements are also subject to a number of material risks and uncertainties that are described in Sios most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission on November 13, 2020, as updated by its subsequent filings with the Securities and Exchange Commission. Any forward-looking statement speaks only as of the date on which it was made. Sio undertakes no obligation to publicly update or revise any forward-looking statement, whether as a result of new information, future events or otherwise.

Contacts:

Media

Josephine Belluardo, Ph.D.LifeSci Communications(646) 751-4361jo@lifescicomms.cominfo@siogtx.com

Investors and Analysts

David NassifSio Gene Therapies Inc.Chief Financial Officer and General Counsel(646) 677-6770investors@siogtx.com

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Sio Gene Therapies Announces Receipt of $11.6 Million from Closing of the Sale of Arvelle Therapeutics - BioSpace

Sio Gene Therapies Announces First Patient Dosed in Clinical Trial of AXO-AAV-GM2 in Patients with Tay-Sachs and Sandhoff Disease (GM2 Gangliosidosis)…

Posted on February 7, 2021 by Danzig

- First potentially disease-modifying gene therapy for GM2 gangliosidosis to enter clinical studies

- Expect to continue patient identification, screening, and enrollment in Stage 1 of the study throughout 2021

NEW YORK and RESEARCH TRIANGLE PARK, N.C., Feb. 03, 2021 (GLOBE NEWSWIRE) -- Sio Gene Therapies Inc. (NASDAQ: SIOX), a clinical-stage company focused on developing gene therapies to radically transform the lives of patients with neurodegenerative diseases, today announced that the first patient with infantile Tay-Sachs disease has been dosed in a Phase 1/2 trial evaluating AXO-AAV-GM2,an investigational gene therapy for the treatment of GM2 gangliosidosis, also known as Tay-Sachs or Sandhoff disease.

We are proud to bring the first potentially disease-modifying treatment for GM2 gangliosidosis to the clinic, which is a milestone for Sio, for patients, and for the field of gene therapy, said Gavin Corcoran, M.D., Chief R&D Officer of Sio. By restoring lysosomal enzyme activity where it is essential, AXO-AAV-GM2 has the potential to change the course of this disease and help affected children attain and retain important neuro-developmental milestones. The prior expanded access study of AXO-AAV-GM2 provided important proof-of-concept data and we look forward to the results of the first stage of our study as we strive to develop a treatment for children suffering from this rapidly progressive and fatal disease.

Florian Eichler, M.D., Director of the Leukodystrophy Service of the Center for Rare Neurological Diseases at Massachusetts General Hospital, and principal investigator, added, To date, the current GM2 treatment landscape is limited to supportive care, underscoring the significant need for new treatment options to address this devastating pediatric neurodegenerative disease. AXO-AAV-GM2 has significant potential to address the clinical manifestations of both Tay Sachs and Sandhoff diseases, and as a result, the dosing of this patient represents a major step forward for this therapy. We look forward to evaluating the results of this study and advancing the first potentially disease-modifying treatment option for patients with GM2.

The Phase 1/2 study (NCT04669535) is an open-label, two-stage clinical trial designed to evaluate safety and dose-escalation (Stage 1) and safety and efficacy (Stage 2) of surgical delivery of AXO-AAV-GM2 directly to the brain and spinal cord of pediatric participants with both infantile and juvenile GM2 gangliosidosis. AXO-AAV-GM2 has been granted Orphan Drug and Rare Pediatric Disease Designation by the FDA and is the first investigational gene therapy to enter clinical trials for GM2 gangliosidosis. In 2019, clinical evidence from two patients under an expanded access IND found that treatment with AXO-AAV-GM2 was generally well-tolerated and associated with improved bioactivity outcomes.

The families of children with Sandhoff and Tay-Sachs diseases show incredible bravery in choosing to participate in investigational studies of novel therapeutics like AXO-AAV-GM2. We share their hope that this treatment can halt or reverse the otherwise inexorable course of these tragic diseases, said Terence R. Flotte, MD, Professor of Pediatrics and Dean at the University of Massachusetts Medical School and principal investigator of the trial.

GM2 gangliosidosis is a set of rare, monogenic neurodegenerative lysosomal storage disorders caused by mutations in the genes that encode the enzyme -Hexosaminidase A. It can be categorized into two distinct diseases, Tay-Sachs disease, which results from a mutation in the gene encoding the alpha subunit of the -Hexosaminidase A enzyme (HEXA), and Sandhoff disease, which results from a mutation in the gene encoding the beta subunit of the -Hexosaminidase A enzyme (HEXB). Children affected by GM2 gangliosidosis suffer from a progressively debilitating disease course and reduced life expectancy.

Sue Kahn, Executive Director of National Tay-Sachs & Allied Diseases Association(NTSAD), added, This news represents the culmination of many years of work to advance this research and immense support from the GM2 community, and it underscores the dire need for new treatment options capable of providing meaningful benefits to patients and families. We are extremely excited by the progress Sio has made and the hope it brings to our community.

Sio aims to advance the program through strategic partnerships with leading research organizations. The Company has a partnership with Viralgen, an AskBio subsidiary, to support AAV-based vector manufacturing of clinical trial material for the registrational study. Additionally, through an existing genetic testing collaboration with Invitae, ongoing partnership with GM2 gangliosidosis patient groups, and collaboration with leading academic researchers at the University of Massachusetts Medical School and Massachusetts General Hospital, Sio has begun patient identification and screening activities for the ongoing clinical study.

About AXO-AAV-GM2

AXO-AAV-GM2 is an investigational gene therapy for GM2 gangliosidosis (also known as Tay-Sachs and Sandhoff diseases), a set of rare and fatal pediatric neurodegenerative genetic disorders caused by defects in the HEXA (leading to Tay-Sachs disease) or HEXB (leading to Sandhoff disease) genes that encode the two subunits of the -hexosaminidase A (HexA) enzyme. These genetic defects lead to progressive neurodegeneration and shortened life expectancy. AXO-AAV-GM2 aims to restore HexA function by introducing a functional copy of the HEXA and HEXB genes via delivery of two co-administered AAVrh8 vectors.

About Sio Gene TherapiesSio Gene Therapies combines cutting-edge science with bold imagination to develop genetic medicines that aim to radically improve the lives of patients. Our current pipeline of clinical-stage candidates includes the first potentially curative AAV-based gene therapies for GM1 gangliosidosis and Tay-Sachs/Sandhoff diseases, which are rare and uniformly fatal pediatric conditions caused by single gene deficiencies. We are also expanding the reach of gene therapy to highly prevalent conditions such as Parkinsons disease, which affects millions of patients globally. Led by an experienced team of gene therapy development experts, and supported by collaborations with premier academic, industry, and patient advocacy organizations, Sio is focused on accelerating its candidates through clinical trials to liberate patients with debilitating diseases through the transformational power of gene therapies. For more information, visit http://www.siogtx.com.

In 2018, Sio licensed exclusive worldwide rights from the University of Massachusetts Medical School for the development and commercialization of gene therapy programs for GM1 gangliosidosis and GM2 gangliosidosis, including Tay-Sachs and Sandhoff diseases.

Forward-Looking Statements

This press release contains forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995 and other federal securities laws. The use of words such as expect potentially, and potential, and other similar expressions are intended to identify forward-looking statements. For example, all statements Sio makes regarding costs associated with its operating activities are forward-looking. All forward-looking statements are based on estimates and assumptions by Sios management that, although Sio believes to be reasonable, are inherently uncertain. All forward-looking statements are subject to risks and uncertainties that may cause actual results to differ materially from those that Sio expected. Such risks and uncertainties include, among others, the impact of the Covid-19 pandemic on our operations, the initiation and conduct of preclinical studies and clinical trials; the availability of data from clinical trials; the development of a suspension-based manufacturing process for AXO-Lenti-PD; the scaling up of manufacturing, the expectations for regulatory submissions and approvals; the continued development of our gene therapy product candidates and platforms; Sios scientific approach and general development progress; and the availability or commercial potential of Sios product candidates. These statements are also subject to a number of material risks and uncertainties that are described in Sios most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission on November 13, 2020, as updated by its subsequent filings with the Securities and Exchange Commission. Any forward-looking statement speaks only as of the date on which it was made. Sio undertakes no obligation to publicly update or revise any forward-looking statement, whether as a result of new information, future events or otherwise.

Contacts:

Media

Josephine Belluardo, Ph.D. LifeSci Communications(646) 751-4361jo@lifescicomms.cominfo@siogtx.com

Investors and Analysts

Parag V. Meswani, Pharm.D.Sio Gene Therapies Inc.Chief Commercial Officer investors@siogtx.com

Welsh, Carson, Anderson & Stowe Commits $250 Million in a Strategic Partnership with Kiniciti, a Newly-Formed Platform Investing in Cell and Gene…

Posted on February 7, 2021 by Danzig

NEW YORK, Feb. 1, 2021 /PRNewswire/ --Welsh, Carson, Anderson & Stowe ("WCAS"), a leading private equity firm focused exclusively on the healthcare and technology industries, announced today that it is committing up to $250 million to a strategic partnership with Kiniciti, a newly-formed platform. Kiniciti will invest in non-therapeutic companies supporting cell and gene therapy ("CGT") innovation which have the potential to transform the cell and gene therapy ecosystem and deliver the promise of CGT to impact patients' lives.

Principal focus areas for investment include companies with: transformational capabilities in cell engineering and gene-editing; cell sources and other value-added starting materials; process science and scale-up tools and services; production technologies; and, source-to-patient delivery. Kiniciti plans to invest in a cross section of CGT opportunities, large and small, across multiple geographies.

Core to Kiniciti's strategy is its flexible investment model focused on ensuring that the ecosystem of companies supporting cell and gene therapeutics customers have access to the capital and strategic resources necessary to enable these advanced therapies to rapidly and reliably reach patients.This will include control, growth equity and significant minority stake structures intended to:

Kiniciti's leadership team includes Geoffrey Glass, Chief Executive Officer, and Jason Conner, Chief Strategy Officer. For more than 25 years, Mr. Glass has helped lead services and therapeutic companies in the life sciences sector. Mr. Conner has helped numerous high-growth life sciences and services companies in his senior strategy, corporate development, and legal roles over more than two decades. Kiniciti's core team has a total of five decades of experience in growing and scaling companies across the healthcare services, life sciences and tools and equipment sectors organically and through M&A.

Mr. Glass said, "The number of innovations, new companies and clinical trials in the cell and gene therapy space is at an all-time high and, ironically, this is exactly when challenges emerge. The pace of funding and therapeutic innovation is far outstripping the available human capital to design, execute and scale the uniquely demanding processes required by advanced therapies. Furthermore, many promising cell and gene therapy solutions providers lack the scale and capital to support this pace of industry growth. We aim to address these challenges."

"In forming Kiniciti, we are thrilled to partner with WCAS, a pioneer in the private equity industry with a 40-year track record of building strong, sustainable platforms working hand-in-hand with management teams," added Mr. Glass. "The firm has deep experience investing in high growth healthcare businesses that are at unique inflection points. WCAS has raised and successfully managed funds totaling over $27 billion of committed capital, and dozens of public healthcare companies can trace their roots to WCAS. We are pleased that two of WCAS's General Partners, Nick O'Leary and Brian Regan, will serve on our Board of Directors and we look forward to benefitting from their judgment and years of experience."

Nick O'Leary, General Partner at WCAS, said, "Partnering with Kiniciti to help realize the promise of cell and gene therapy represents a natural extension for WCAS's Healthcare franchise. We will pursue opportunities where operational improvements, organic growth initiatives and strategic acquisitions can unlock full potential, for both our investments and the patients these companies serve. In today's cell and gene therapy landscape, we believe that there are many exciting therapy innovators that possess the right science but need the supporting ecosystem essential to advancing their therapeutics at the pace they require and deserve. We look forward to working with the Kiniciti team to help address these critical pain points to help deliver CGT at scale and lower cost."

About KinicitiNewly-formed Kiniciti was established to partner with companies with the potential to transform and strengthen the cell and gene therapy ecosystem. With a highly tailored, collaborative and flexible investment and strategic support model, Kiniciti aims to ensure the promise of cell and gene therapeutics is delivered quickly and safely to patients in need worldwide. The company's leadership team includes professionals experienced in investing in and building successful companies across the life sciences sector. For more information, visit kiniciti.com.

About Welsh, Carson, Anderson & StoweWCAS is a leading U.S. private equity firm focused on two target industries: technology and healthcare. Since its founding in 1979, the firm's strategy has been to partner with outstanding management teams and build value for its investors through a combination of operational improvements, growth initiatives and strategic acquisitions. The firm has raised and managed funds totaling over $27 billion of committed capital. WCAS is currently investing an equity fund, Welsh, Carson, Anderson and Stowe XIII, L.P., which closed on $4.3 billion in commitments in 2019. For more information, please visit wcas.com.

Media and Investment Opportunity Contact:

Geoffrey Glass+1 (212) 650-4104[emailprotected]

SOURCE Welsh, Carson, Anderson & Stowe; Kiniciti

https://www.wcas.com/

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Welsh, Carson, Anderson & Stowe Commits $250 Million in a Strategic Partnership with Kiniciti, a Newly-Formed Platform Investing in Cell and Gene...

Decibel and Catalent Sign Development and Manufacturing Agreement for Dual-Vector Gene Therapy for the Treatment of Congenital Hearing Loss – Yahoo…

Posted on February 7, 2021 by Danzig

Catalent, the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, cell and gene therapies, and consumer health products, and Decibel Therapeutics, a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments for hearing and balance disorders, today announced they have signed an agreement for Catalent to provide Decibel with process and analytical development, and CGMP clinical manufacturing services, for Decibel's lead investigational gene therapy product candidate, DB-OTO.

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SOMERSET, N.J. and BOSTON, Feb. 4, 2021 /PRNewswire-PRWeb/ -- Catalent, the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, cell and gene therapies, and consumer health products, and Decibel Therapeutics, a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments for hearing and balance disorders, today announced they have signed an agreement for Catalent to provide Decibel with process and analytical development, and CGMP clinical manufacturing services, for Decibel's lead investigational gene therapy product candidate, DB-OTO.

DB-OTO is a dual-vector adeno-associated virus (AAV) gene therapy that is designed to restore hearing to individuals with profound, congenital hearing loss caused by mutations in the otoferlin gene. Decibel is developing DB-OTO in collaboration with Regeneron Pharmaceuticals. Under the terms of the agreement, Catalent will provide material from its Maryland-based gene therapy facilities to support Decibel's planned IND-enabling studies and Phase 1/2 clinical trial of DB-OTO.

"There are currently no approved therapies that treat congenital deafness caused by genetic deficiencies. In our preclinical studies, we have delivered full-length, functional otoferlin protein under the control of a cell-selective promoter which restored hearing function in a mouse model of otoferlin deficiency, demonstrated cell selective expression in non-human primates, and preliminary safety and tolerability of delivery of DB-OTO," said John Lee, Executive Vice President, Pharmaceutical Development and Interim Chief Scientific Officer of Decibel. "We look forward to working with Catalent on the development of DB-OTO as we progress towards clinical trials."

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"Partnering early with innovative companies allows us to develop and optimize robust, scalable manufacturing processes and the analytical methods to assess them," commented Manja Boerman, Ph.D., President, Catalent Cell & Gene Therapy. "Our Maryland development centers in Gaithersburg and the University of Maryland BioPark in Baltimore focus on providing process optimization services to meet our customers' needs for early-stage clinical gene therapies."

Catalent has five gene therapy facilities in Maryland that provide services from clinical- to commercial-scale, and house multiple CGMP manufacturing suites, including fill/finish, testing laboratories, warehousing, supply chain capabilities, and other associated services.

About Decibel Therapeutics Decibel Therapeutics is a clinical-stage biotechnology company dedicated to discovering and developing transformative treatments to restore and improve hearing and balance, one of the largest areas of unmet need in medicine. Decibel has built a proprietary platform that integrates single-cell genomics and bioinformatic analyses, precision gene therapy technologies and expertise in inner ear biology. Decibel is leveraging its platform to advance gene therapies designed to selectively replace genes for the treatment of congenital, monogenic hearing loss and to regenerate inner ear hair cells for the treatment of acquired hearing and balance disorders. Decibel's pipeline, including its lead gene therapy program, DB-OTO, to treat congenital, monogenic hearing loss, is designed to deliver on our vision of a world in which the privileges of hearing and balance are available to all. For more information about Decibel Therapeutics, please visit http://www.decibeltx.com or follow @DecibelTx.

About Catalent Cell & Gene Therapy With deep experience in viral vector scale-up and production, Catalent Cell & Gene Therapy is a full-service partner for adeno-associated virus (AAV) and lentiviral vectors, and CAR-T immunotherapies. When it acquired MaSTherCell, Catalent added expertise in autologous and allogeneic cell therapy development and manufacturing to position it as a premier technology, development and manufacturing partner for innovators across the entire field of advanced biotherapeutics. Catalent has a global cell and gene therapy network of dedicated, large-scale clinical and commercial manufacturing facilities, and fill-finish and packaging capabilities located in both the U.S. and Europe. An experienced partner, Catalent Cell & Gene Therapy has worked with industry leaders across 70+ clinical and commercial programs. For more information, visit biologics.catalent.com/cell-gene-therapy/

About Catalent Catalent is the leading global provider of advanced delivery technologies, development, and manufacturing solutions for drugs, biologics, cell and gene therapies, and consumer health products. With over 85 years serving the industry, Catalent has proven expertise in bringing more customer products to market faster, enhancing product performance and ensuring reliable global clinical and commercial product supply. Catalent employs approximately 15,000 people including around 2,400 scientists and technicians, at more than 45 facilities, and in fiscal year 2020 generated over $3 billion in annual revenue. Catalent is headquartered in Somerset, New Jersey. For more information, visit http://www.catalent.com

More products. Better treatments. Reliably supplied.

Media Contact

Chris Halling, Catalent, +447580041073, chris.halling@catalent.com

Richard Kerns, Northern Exposure Public Relations, +441617285880, richard@nepr.agency

SOURCE Catalent

Decibel and Catalent Sign Development and Manufacturing Agreement for Dual-Vector Gene Therapy for the Treatment of Congenital Hearing Loss - Yahoo...

Abeona Therapeutics Announces Clinical Investigator Webinar to Review ABO-102 and ABO-101 Clinical Data Presented at the 17th Annual WORLDSymposium -…

Posted on February 7, 2021 by Danzig

NEW YORK and CLEVELAND, Feb. 02, 2021 (GLOBE NEWSWIRE) -- Abeona Therapeutics Inc. (Nasdaq: ABEO), a fully-integrated leader in gene and cell therapy, today announced that it will host a live webinar for the investment community on Tuesday, February 16, 2021 at 1:00 p.m. EST to review clinical data on the companys investigational AAV-based gene therapies ABO-102 and ABO-101 presented at the 17th Annual WORLDSymposium.

Speakers will include Kevin Flanigan, M.D., Director, Center for Gene Therapy at AWRI at Nationwide Children's and Transpher A study principal investigator, Maria Jose de Castro, M.D., Hospital Clnico Universitario Santiago de Compostela and Transpher B study investigator, and Michael Amoroso, Principal Executive and Chief Operating Officer of Abeona.

To register in advance for the live webinar, please visit this registration link. The live webinar, including audio and presentation slides, will be accessible at https://investors.abeonatherapeutics.com/events at the time of the meeting. An archived replay of the webinar will be available after the conclusion of the live event at https://investors.abeonatherapeutics.com/events.

About Abeona Therapeutics Abeona Therapeutics Inc. is a clinical-stage biopharmaceutical company developing gene and cell therapies for serious diseases. Abeonas clinical programs include EB-101, its autologous, gene-corrected cell therapy for recessive dystrophic epidermolysis bullosa in Phase 3 development, as well as ABO-102 and ABO-101, novel AAV-based gene therapies for Sanfilippo syndrome types A and B (MPS IIIA and MPS IIIB), respectively, in Phase 1/2 development. The Companys portfolio also features AAV-based gene therapies for ophthalmic diseases with high unmet medical needs. Abeonas novel, next-generation AIM capsids have shown potential to improve tropism profiles for a variety of devastating diseases. Abeonas fully functional, gene and cell therapy GMP manufacturing facility produces EB-101 for the pivotal Phase 3 VIITAL study and is capable of clinical and commercial production of AAV-based gene therapies. For more information, visit http://www.abeonatherapeutics.com.

Forward-Looking StatementsThis press release contains certain statements that are forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended, and Section 21E of the Securities Exchange Act of 1934, as amended, and that involve risks and uncertainties. These statements include statements about the Company exploring all strategic options, including the sale of some or all of its assets or sale of the Company. We have attempted to identify forward-looking statements by such terminology as may, will, believe, estimate, expect, and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances), which constitute and are intended to identify forward-looking statements. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, numerous risks and uncertainties, including but not limited to the potential impacts of the COVID-19 pandemic on our business, operations, and financial condition, the outcome of the strategic review, continued interest in our rare disease portfolio, our ability to enroll patients in clinical trials, the outcome of any future meetings with the U.S. Food and Drug Administration or other regulatory agencies, the impact of competition, the ability to secure licenses for any technology that may be necessary to commercialize our products, the ability to achieve or obtain necessary regulatory approvals, the impact of changes in the financial markets and global economic conditions, risks associated with data analysis and reporting, and other risks disclosed in the Companys most recent Annual Report on Form 10-K and subsequent quarterly reports on Form 10-Q and other periodic reports filed with the Securities and Exchange Commission. The Company undertakes no obligation to revise the forward-looking statements or to update them to reflect events or circumstances occurring after the date of this press release, whether as a result of new information, future developments or otherwise, except as required by the federal securities laws.

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Abeona Therapeutics Announces Clinical Investigator Webinar to Review ABO-102 and ABO-101 Clinical Data Presented at the 17th Annual WORLDSymposium -...

Meeting the commercialization challenge of a surging gene and cell therapy market – FierceBiotech

Posted on February 7, 2021 by Danzig

Undaunted by the challenges the COVID-19 pandemic unleashed on the world the expected surge of cell and gene therapies already in the pipeline and on the horizon will continue to materialize, and with them the complexity of riding that wave of innovation.

Just two years ago the U.S. Food and Drug Administration (FDA) forecast that it would be flooded by 2020 with about 200 Investigational New Drugs a year on top of the more than 800 active cell-based or gene therapies it was already processing. The agency projected that by 2025 it would be approving anywhere between 10 to 20 new cell and gene therapy products a year. By 2024, the FDA and the pharmaceutical and biopharmaceutical industries expect more than 40 new and innovative cell and gene therapies will be available on the market.

Although the pandemic disrupted drug discovery and development efforts early in the crisis, the industry has been quick to respond and adjust. The CG&T market will likely slow from $6.68 billion in 2019 to $6.92 in 2020 because of the pandemic, yet it is forecast to recover and grow to an estimated $13.23 billion by 2023, according to Researchandmarkets.com.

There is more momentum than ever before to bring these innovative medicines to market, said Doug Cook, president of Commercialization Services and Animal Health at AmerisourceBergen. The influx of therapies offers tremendous promise and hope to patients with conditions where there are few treatment options and no cures. But these complex products introduce new considerations throughout the commercialization journey, so its critical that manufacturers work with a partner that can help them navigate challenges at each stepfrom pre-clinical and commercial logistics to market access strategies and patient support solutions.

Because CG&T are derived from a patients own cells, time and temperature have become critical factors from the moment they are extracted on through the manufacturing process and then returned as a curative life-saving therapy. As such, there is little room for failure or delay throughout the supply chain.

Given the narrow window of viability of these therapies they need to be shipped as quickly as possible to preserve the time the cells are active. With such a constraint on the time those cells are viable, the pressure on logistics providers has become even more acute. Clearly, supply chain companies that have larger networks and better access to more depots are more advantageous for manufacturers, but more importantly, for patients.

The complexity of these treatments can be staggering both from a development perspective and on into storage and transportation, Cook said. For the first time, the patient is now part of the supply chain where they used to be at the end of it, and thats really different than anything weve seen before.

Many, if not most, of CG&T require ultra-frozen storage from the development stage on through to the application to the patient. This is an element of the supply chain the public is becoming acutely aware of as a result of the COVID-19 pandemic. For example: Pfizer-BioNTechs COVID-19 vaccine must be stored in containers that can achieve between -80 to -60 degrees Celsius. C> require storage conditions from ultracold (-80 degrees Celsius) down to cryogenic temperatures (-135 to -150 degrees Celsius). To ensure the product remains viable throughout transport, the shipping containers must have the ability to keep a constant monitor of the temperatures as well as have real-time GPS tracking.

The shorter the shelf life of the cell therapy, the more intense the logistical challenges. To achieve successful outcomes in what are very patient-centric treatmentsoften referred to as a vein-to-vein supply chainrequires manufacturers to partner with experienced and technologically advanced wholesalers and distributors that have a global reach and ability to address issues with customs and country-specific regulatory requirements.

As the wave of these therapies begins to swell past the approval stage, the need for infrastructure that can handle CG&T has to be in place to avoid bottlenecks and delays that could limit patient access.

Because of all the complexity, handoffs are where mistakes happen, and you need a partner who focuses on all those small details and makes the process seamless, Cook said. This is where experience matters, and capabilities are essential.

In order to continue to meet and exceed its capabilities, early last year AmerisourceBergen strengthened its logistics offerings by integrating its global logistics provider, World Courier, with ICS, its third-party (3PL) provider. Now fully integrated, the service offers a complete cryogenic supply chain. World Courier and ICS offer vapor-charged cryogenic storage with fully automated technology and temperature-controlled transport from a manufacturers location to a storage facility and then to each point of care in dry shipment containers. The group has extensive experience in navigating international borders while maintaining temperature requirements.

With a global network of more than 140 offices, World Couriers has the ability to provide cryogenic shipping solutions that are close to patient and manufacturing locations, which provides much more flexibility as well as cutting response times for patient and hospital needs.

Its become clear as we navigated through COVID that everything has to be connected in ways they werent before, Cook said. As a result, weve invested in more technology services to better position ourselves to support CG&T and play the role of partner and connector more than ever before.

And we are always looking at ways to offer more cohesive capabilities.

To learn more about how AmerisourceBergen anticipates supply and demand and how we do business and the role of distributors in the supply chain check out:https://www.amerisourcebergen.com/pharmaceutical-distribution/value-of-the-distributor

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Meeting the commercialization challenge of a surging gene and cell therapy market - FierceBiotech

Albumedix enters into collaboration agreement with Cell and Gene Therapy Catapult – PharmiWeb.com

Posted on February 7, 2021 by Danzig

Nottingham, UK 2nd February 2021 Life Science Newswire Albumedix Ltd. (Albumedix), an enabler of advanced therapies and the world leader in recombinant human albumin (rAlb), announced today that they have entered into a collaboration agreement with the Cell and Gene Therapy Catapult (CGT Catapult) to investigate the use of Albumedix proprietary albumin-based solutions for advanced therapy applications, including viral vectors manufacturing.

This agreement reflects the continued efforts of Albumedix to engage with the industry and expand upon its knowledge in the field, and the CGT Catapults mission to drive the growth of the UK cell and gene therapy industry by helping cell and gene therapy organisations across the world translate early-stage research into commercially viable and investable therapies.

Albumedix Chief Executive Officer; Jonas Skjdt Mller commented on the collaboration:

With a mission to empower excellence in advanced therapies, we are committed to continuously playing an integral part in enabling our customers to advance in a fast-moving industry. For us to do so, we continuously look at other industry leaders to establish collaborations. Continuing to learn from each other allows innovation in the market to advance, and Albumedix to support our customers with in-depth knowledge of how rAlb can uniquely benefit their therapies. Cell and Gene Therapy Catapult is the ideal partner; located in our own backyard here in the UK and with incredible skills, knowledge and drive to advance the cell and gene therapy industry we are excited about this collaboration.

Matthew Durdy, Chief Executive Officer at Cell and Gene Therapy Catapult commented:

The opportunity to collaborate with a leading company like Albumedix Ltd in order to assess and drive the potential of their latest technology is something that we embrace. The prospect of improving manufacturing of viral vectors such as Adeno-associated virus (AAV) through this exciting technology is something which could significantly benefit and advance the wider cell and gene therapy field.

Activities under this agreement will be carried out both at the CGT Catapult facility in Braintree and at Albumedix new R&D center, with state-of-the-art laboratories specifically designed for the process optimization, characterization and formulation development of advanced therapies.

Get in touch with Albumedix today by emailing communications@albumedix.com to learn more about their Recombumin range of world leading recombinant human albumin products. Reach out to Cell and Gene Therapy Catapult by emailing communications@ct.catapult.org.uk to learn more about how they can help your organisation to translate early stage research into commercially viable and investable therapies.

About Albumedix Dedicated to Better Health

Albumedix is a science-driven, life-science company focused on enabling the creation of superior biopharmaceuticals utilizing our recombinant human albumin products. We believe in empowering excellence to enable advanced therapies and facilitate otherwise unstable drug candidates reach patients worldwide. We are proud to be recognized as the world leader in recombinant human albumin with products and technologies used in clinical and marketed drugs by pharmaceutical and medical device companies worldwide. Headquartered in Nottingham, England with more than 100 people all committed to improving patient quality of life. We are just as passionate about albumin and albumin-enabled therapies today as we were when we started more than 35 years ago. For more information, please reach out to Albumedix at communications@albumedix.com or visit http://www.albumedix.com

About Cell and Gene Therapy Catapult

The Cell and Gene Therapy Catapult was established as an independent centre of excellence to advance the growth of the UK cell and gene therapy industry, by bridging the gap between scientific research and full-scale commercialisation. With more than 330 employees focusing on cell and gene therapy technologies, it works with partners in academia and industry to ensure these life-changing therapies can be developed for use in health services throughout the world. It offers leading-edge capability, technology and innovation to enable companies to take products into clinical trials and provide clinical, process development, manufacturing, regulatory, health economics and market access expertise. Its aim is to make the UK the most compelling and logical choice for UK and international partners to develop and commercialise these advanced therapies. The Cell and Gene Therapy Catapult works with Innovate UK. For more information please visit ct.catapult.org.uk or visit http://www.gov.uk/innovate-uk.

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Albumedix enters into collaboration agreement with Cell and Gene Therapy Catapult - PharmiWeb.com

Avacta JV raises $7.3m for cell and gene therapy push | Business Weekly – Business Weekly

Posted on February 7, 2021 by Danzig

A Cambridge UK-Korea joint venture promising great things in nextgen cell and gene therapy technology has been rewarded with major cash backing in a Series A round.

Avactas JV with Daewoong Pharmaceutical AffyXell Therapeutics has secured $7.3 million to further develop its pipeline of next generation cell and gene therapies.

AffyXell was established in January 2020 to develop novel mesenchymal stem cell therapies. The business is combining Avactas Affimer platform with Daewoongs MSC platform such that the stem cells are genetically modified to produce and secrete therapeutic Affimer proteins in situ in the patient.

The Affimer proteins are designed to enhance the therapeutic effects of the MSC creating a novel, next generation cell therapy platform.

The Series A funding has been raised from a group of venture funds including Samsung Venture Investment Corporation, Shinhan Venture Investment, Smilegate Investment, Shinhan Investment Corporation, Kolon Investment, Stonebridge Ventures and Gyeongnam Venture Investment.

The proceeds will be used by AffyXell to further the development of MSCs engineered to produce Affimer molecules generated by Avacta that suppress immune response and restore immune balance.

While initially focusing on inflammatory and autoimmune diseases and prevention of organ transplant rejection, longer term goals could also include applications in regenerative medicine, infectious diseases and oncology.

Avacta's R & D costs associated with the generation of the Affimer proteins are funded by AffyXell whilst Avacta retains the rights to commercialise the Affimer proteins outside the field of cell therapies.

Avacta CEO Dr Alastair Smith said: The potential for AffyXells new class of MSC therapies to deliver improved treatments for a wide range of inflammatory and autoimmune diseases is significant, in a market estimated to be worth $16 billionn by 2025.

We expect these novel engineered MSCs to show a more powerful therapeutic effect than existing antibodies and stem cells and they therefore have the potential to lead the rapidly growing field of cell and gene therapy.

AffyXell is uniquely positioned to develop novel and powerful cell therapies through the combination of two world-class technologies: Avactas Affimer platform and Daewoongs proprietary technology for generating off-the-shelf allogeneic MSC therapies.

Completion of the Series A funding is a strong validation of this concept and moves us closer to providing these new therapies to the patients who need them.

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Avacta JV raises $7.3m for cell and gene therapy push | Business Weekly - Business Weekly

FDA’s New Guidance on Cell and Gene Therapy Recommends Assessment of COVID-19 Transmission Risks – Lexology

Posted on February 7, 2021 by Danzig

FDAS New Guidance on Cell and Gene Therapy Recommends Assessment of COVID-19 Transmission Risks

The U.S. Food and Drug Administration (FDA) recently published guidance[1] to assist manufacturers of licensed and investigational cell and gene therapy (CGT) products in minimizing the potential transmission of the novel coronavirus, SARS-CoV-2. In this Guidance, FDA recommends that CGT manufacturers conduct a risk assessment to identify and evaluate factors that may allow SARS-CoV-2 to be transmitted by the CGT product and to implement appropriate strategies to mitigate the risk. The evaluation should include, as appropriate, donor assessment, cell and/or tissue source materials, and certain manufacturing processes, such as cell expansion and viral reduction steps, which can affect viral spread.

This CGT Guidance is intended to supplement FDAs prior June 2020 guidance[2] for responding to COVID-19 infection in employees involved in drugs and biologics product manufacturing. The new Guidance builds upon FDAs prior recommendations by providing updated considerations specific to development and manufacturing of CGT products, which may be susceptible to viral contamination.

Risk Assessment and Mitigation Strategies

FDA notes that it is not aware of any CGT products known to have been contaminated with SARS-CoV-2 or of transmission of SARS-CoV-2 through CGT products. Furthermore, FDA at this time is not providing specific recommendations for testing source materials, intermediates, or final CGT products for SARS-CoV-2. The CGT Guidance makes clear, however, that manufacturers should carefully evaluate whether the novel coronavirus poses new risks to the safety and quality of their CGT products. Such an evaluation aligns with FDAs understanding of current Good Manufacturing Practice (cGMP) requirements. Thus, even if it is determined that the risk is minimal, it is important for CGT developers and manufacturers to document a thorough risk assessment that can be provided to FDA or other regulators upon request, such as during an inspection. The risk-based approach should consider, among other things, the number of patients expected to be treated with the CGT product, since a product manufactured from a cell bank and used to treat a large number of patients would have a higher contamination risk than a product intended for autologous use.

FDA recommends that manufacturers of CGT products derived from human cell, tissue, or cellular or Tissue-based Products (HCT/P) include COVID-19 risk factors in their donor eligibility screening. Specifically, manufacturers should consider whether, in the 28 days prior to HCT/P collection, the donor had close contact with individuals diagnosed with or suspected of having COVID-19, had been diagnosed with or suspected of having COVID-19, or had a positive test result from a diagnostic test but never developed symptoms. At this time, FDA does not recommend screening asymptomatic donors for SARS-CoV-2; however, CGT manufacturers considering testing as a risk mitigation strategy should use viral testing methods previously authorized by FDA for this purpose.

In assessing source materials, manufacturers should consider, for example, the ability of the coronavirus to infect and replicate in the source cells and tissues, as well as the risk of infection of the specific organ system (e.g., the respiratory system) from which the materials are sourced. In addition to evaluating source materials, however, manufacturers should also focus on the manufacturing process used to control viral spread (e.g., cell expansion in culture, viral reduction steps, producer cell lines, controls for open systems), and contamination risk during manufacturing. This is especially important, given that SARS-CoV-2 has been found to be capable of infecting or replicating in cells often used for vector propagation, such as HEK293 and Vero cells. The manufacturers quality unit should review and approve any risk assessments. If the risk assessment indicates the need to address specific risks related to SARS-CoV-2, manufacturers may consider product testing as a potential risk mitigation strategy.

These assessment activities are in addition to FDAs expectations that manufacturers prevent or mitigate the potential for contamination from a sick employee engaged in product manufacturing. Manufacturers should ensure that employees practice good sanitation and health habits. Further, as detailed in FDAs June 2020 guidance, manufacturers should confirm appropriate implementation of policies restricting infected employees from production areas and ensure that adequate cGMP controls are in place to prevent transmission among employees and contamination of product. This earlier guidance also provides specific recommendations on manufacturing controls to prevent contamination and ensuring continuity of manufacturing operations.

Next Steps

CGT manufacturers should submit a description of their risk assessment and mitigation strategies in their Investigation New Drug Application, Biologics License Application, or master file with FDA. For currently marketed products or for pending applications subject to pre-approval inspections, FDA may also confirm through inspections or record requests that the assessment has been completed and appropriate viral control strategies are in place. It is critical that risk assessments be clearly documented and conclusions well supported by technical and scientific data. For example, risk assessments may need to include review of existing cleanroom process and microbiological controls to prevent or minimize contamination. Manufacturers may need to consider their current product testing procedures. Relevant questions may include What qualification or validation data supports the detection of SAR-CoV-2, if present, in your final product?, Would your current cell bank and harvest testing and related controls detect the coronavirus if present in the source materials?, and How can existing data regarding the removal of adventitious viral agents and other impurities be applied under the current risk assessment? Manufacturers should also consider revisiting their risk assessments as they gain more knowledge about their CGT products and manufacturing processes and as additional information about SARS-CoV-2 becomes available.

The publication of this new CGT Guidance is only one of almost a dozen guidance documents in this rapidly developing area that FDA has published in the last year. CBERs 2021 guidance agenda also includes a number of other important CGT topics that are expected to be the subject of guidance this year.

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FDA's New Guidance on Cell and Gene Therapy Recommends Assessment of COVID-19 Transmission Risks - Lexology

Taysha Gene Therapies Highlights Strategic Priorities and Provides 2021 Business Outlook – Business Wire

Posted on February 7, 2021 by Danzig

DALLAS--(BUSINESS WIRE)--Taysha Gene Therapies, Inc. (Nasdaq: TSHA) (Taysha), a patient-centric, clinical-stage gene therapy company focused on developing and commercializing AAV-based gene therapies for the treatment of monogenic diseases of the central nervous system (CNS) in both rare and large patient populations, today highlighted its strategic priorities and provided a business outlook for 2021.

We enter 2021 having built a strong foundation on which to execute our corporate and pipeline objectives. Notably, we expanded our seasoned leadership team and esteemed board of directors steeped in gene therapy development and commercialization expertise, successfully raised funds in our initial public offering, transitioned from a preclinical- to a clinical-stage company, and achieved important progress on R&D initiatives and our three-pillar manufacturing strategy, said RA Session II, President, Founder and CEO of Taysha. 2021 will be a transformational year as we intend to rapidly advance multiple drug candidates to clinical proof-of-concept, further expand our platform-enabled pipeline and advance next-generation technologies. Specifically, we expect to report clinical data for our GM2 gangliosidosis program in the second half of this year and have multiple ongoing clinical studies by year end. We also anticipate several IND/CTA submissions across three CNS franchises and have multiple therapies in IND/CTA-enabling studies while advancing four new programs into preclinical development. In addition, we are excited to advance our next-generation platform technologies and further our efforts in redosing, transgene regulation and capsid development. We believe that our platform will drive future sustained innovation and value creation and look forward to highlighting the productivity of our platform in an R&D day later this year. Lastly, we continue to make progress on cGMP facility and process development capabilities with the completion of the design phase and initiation of procurement of long lead equipment.

Anticipated Milestones by Program

TSHA-101 for infantile GM2 gangliosidosis: the first bicistronic gene therapy in clinical development designed to deliver two genes HEXA and HEXB intrathecally for the treatment of infantile GM2 gangliosidosis, also called Tay-Sachs or Sandhoff disease

TSHA-118 in CLN1: a self-complementary AAV9 viral vector designed to express a human codon-optimized CLN1 transgene to potentially treat CLN1, a rapidly progressing rare lysosomal storage disease with no approved treatments

TSHA-102 in Rett syndrome: a self-complementary AAV9 gene therapy in development for one of the most common genetic causes of severe intellectual disability, designed to deliver MECP2 as well as a novel miRARE platform that regulates transgene expression on a cell-by-cell basis

TSHA-104 in SURF1-associated Leigh syndrome: a self-complementary AAV9 viral vector with a codon optimized transgene encoding the human SURF1 protein to potentially treat SURF1-associated Leigh syndrome, a monogenic mitochondrial disorder with no approved treatments

Pipeline programs advancing into IND/CTA-enabling studies

Discovery programs

Next-generation technology platform

Anticipated Corporate Milestones in 2021

About Taysha Gene Therapies

Taysha Gene Therapies (Nasdaq: TSHA) is on a mission to eradicate monogenic CNS disease. With a singular focus on developing curative medicines, we aim to rapidly translate our treatments from bench to bedside. We have combined our teams proven experience in gene therapy drug development and commercialization with the world-class UT Southwestern Gene Therapy Program to build an extensive, AAV gene therapy pipeline focused on both rare and large-market indications. Together, we leverage our fully integrated platforman engine for potential new cureswith a goal of dramatically improving patients lives. More information is available at http://www.tayshagtx.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as anticipates, believes, expects, intends, projects, and future or similar expressions are intended to identify forward-looking statements. Forward-looking statements include statements concerning or implying the potential of our product candidates to positively impact quality of life and alter the course of disease in the patients we seek to treat, our research, development and regulatory plans for our product candidates and early-stage programs, the potential for these product candidates to receive regulatory approval from the FDA or equivalent foreign regulatory agencies, and whether, if approved, these product candidates will be successfully distributed and marketed, our corporate growth plans and our plans to establish a commercial-scale cGMP manufacturing facility to provide preclinical, clinical and commercial supply. Forward-looking statements are based on managements current expectations and are subject to various risks and uncertainties that could cause actual results to differ materially and adversely from those expressed or implied by such forward-looking statements. Accordingly, these forward-looking statements do not constitute guarantees of future performance, and you are cautioned not to place undue reliance on these forward-looking statements. Risks regarding our business are described in detail in our Securities and Exchange Commission (SEC) filings, including in our Quarterly Report on Form 10-Q for the quarter ended September 30, 2020, which is available on the SECs website at http://www.sec.gov. Additional information will be made available in other filings that we make from time to time with the SEC. Such risks may be amplified by the impacts of the COVID-19 pandemic. These forward-looking statements speak only as of the date hereof, and we disclaim any obligation to update these statements except as may be required by law.

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Taysha Gene Therapies Highlights Strategic Priorities and Provides 2021 Business Outlook - Business Wire

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