Category Archives: Gene Medicine

Ovarian cancer is a common form of cancer and a leading cause of cancer death among women. The genes we inherit affect our chances of developing ovarian cancer, and a new genomic study identifies 12 genetic variants associated with the risk.

The Centers for Disease Control and Prevention (CDC) report that almost 21,000 women in the United States were diagnosed with ovarian cancer in 2013, and more than 14,000 died from the disease.

Early detection of ovarian cancer is crucial in improving the patients' survival rate. If the cancer is diagnosed in the early stages - that is, before it has spread beyond the ovaries - the survival rate is estimated at 92 percent. However, according to the American Cancer Society, only 15 percent of ovarian cancers are diagnosed this early.

New research by an international team of scientists from the United Kingdom, the U.S., and Australia identifies 12 genetic variations that raise the likelihood of epithelial ovarian cancer.

Epithelial ovarian cancer (EOC) is the most common type of ovarian cancer. It forms in the epithelium (the tissue) that covers the ovaries.

The results of the new genomic study were published in the journal Nature Genetics.

The new study was conducted as part of the OncoArray Consortium - a large genomic study looking at almost 450,000 samples in an attempt to identify the genetic background for most common cancers.

The OncoArray Consortium used a novel genotyping technique that allowed the researchers to identify nearly 500,000 single nucleotide polymorphisms (SNPs), which are the most common type of variation found in the human genome.

The inherited genetic architecture accounts for a significant portion of a woman's risk of developing EOC, the authors explain.

"We know that a woman's genetic makeup accounts for about one third of her risk of developing ovarian cancer. This is the inherited component of disease risk. We are less certain of environmental factors that increase our risk, but we do know that several factors reduce the risk of ovarian cancer, including taking the oral contraceptive pill, having your tubes tied, and having children."

Prof. Paul Pharoah, co-lead author

Mutations in the BRCA1 and BRCA2 genes make up 40 percent of this risk.

These faulty genes are quite rare - occurring in approximately 1 in 300 people - and correlate with a high incidence of ovarian and breast cancer.

Using data from the OncoArray Consortium, the new study examined the DNA of more than 25,000 people diagnosed with EOC, as well as genetic data from a control group of nearly 41,000 healthy individuals.

Additionally, the researchers investigated more than 31,000 people who had the BRCA1 and BRCA2 genetic mutations, almost 4,000 of whom had EOC.

The researchers located 12 new genetic variants associated with EOC risk. Additionally, the new study confirmed 18 previously identified variants that had been linked to the risk of developing EOC.

Overall, 6.5 percent of the inherited genetic risk of developing EOC is now known.

The first author of the study, Dr. Catherine Phelan from the Moffitt Cancer Center in Tampa, FL, explains what this percentage means:

"Ovarian cancer is clearly a very complex disease - even the 30 risk variants that we now know increase risk of developing the disease account for just a small fraction of the inherited component. We believe that there will likely be many more genetic variants involved, each with extremely small effects. Most of these are likely to be common, but some will be rare."

The authors also note that some women will have multiple risk-associated gene variants, but even combined, these still do not account for more than a 2.8 percent chance of developing ovarian cancer in their lifetimes.

To put this number into perspective, patients who are offered the option to have their ovaries surgically removed as a preventive measure most often have a lifetime risk of at least 10 percent.

However, the researchers also note that a combination of these genetic variants and being a carrier of the faulty BRCA1 and BRCA2 genes might sometimes be enough to call for preventive surgery.

"In some ways, the hard work starts now. We really have little idea of the functional effect these variants have at the molecular or cellular level and so there are few clues as to how they might affect risk. If we can understand how they work, we will be in a better position to treat - and possibly prevent - ovarian cancer."

Dr. Simon Gayther, study co-author

Learn how tumor DNA fragments help to predict ovarian cancer outcomes.

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Study finds 12 genetic variants that raise the risk of ovarian cancer - Medical News Today

Miami Herald

Cutting-edge gene therapy provides hope for patients with inherited eye conditions Miami Herald For years, patients who had hereditary retinal diseases didn't really have much hope, said Dr. Byron Lam, a neuro-opthalmologist who specializes in hereditary retinal degenerations at UM's Miller School of Medicine. They were diagnosed, but there ...

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Cutting-edge gene therapy provides hope for patients with inherited eye conditions - Miami Herald

March 30, 2017 by Bob Yirka report Motor neurons from mice that received an experimental ALS treatment (top) displayed lower levels of a newly identified biomarker (brown areas) than observed in untreated animals (bottom). Credit: T.F. Gendron et al., Science Translational Medicine (2017)

(Medical Xpress)A very large team of researchers with members from the U.S., Italy and the Netherlands has found what might be a marker for ALS, which the team suggests could be used as a yardstick for measuring the effectiveness of treatments in clinical trials. In their paper published in the journal Science Translational Medicine, the team describes how they connected a genetic abnormality common in ALS patients with a protein they found in blood cells and cerebrospinal fluid.

Amyotrophic lateral sclerosis (ALS), aka Lou Gehrig's disease, is a disorder that causes nerve degeneration leading to muscle atrophy and eventually death. To date, there is no known cure, though one drug has been found to delay the progression of the disease for a few months. One of the things standing in the way of a cure is a lack of tests that can tell researchers if a treatment under study is having any discernable positive impact. This is because there is no test for the disorder itself. In this new effort, the researchers believe they may have found a marker that could be used to test for the disorder, and more importantly, serve as a means for measuring whether a drug developed to reduce symptoms, or better yet a cure for the disease, actually does what is hoped.

The researchers started by looking at patients with a gene mutation called C9ORF72 which is believed to be behind the onset of most types of genetically caused ALS (and also some types of dementia.) During their research, they discovered that many such patients had more than normal amounts of a protein called polyGP in their cerebrospinal fluid and also in their blood cells. Inspired, they conducted a study comparing patients with polyGP in their cerebrospinal fluid with those that had the mutation and with control groups.

The team reports that they found the protein buildup in 134 people who had the mutation, which included 83 people who had ALS, 27 people who had no symptoms, and 24 people who had other types of diseases. Furthermore, they found that the protein buildup was not found in 120 people who did not have the mutation, including those with different types of ALS.

These findings, the group suggests, mean that testing for polyGP might someday soon be used as a viable way to measure treatment success, which could perhaps one day lead to better therapies or perhaps a cure.

Explore further: Children of patients with C9orf72 mutations are at a greater risk of frontotemporal dementia or ALS at a younger age

More information: Tania F. Gendron et al. Poly(GP) proteins are a useful pharmacodynamic marker for-associated amyotrophic lateral sclerosis, Science Translational Medicine (2017). DOI: 10.1126/scitranslmed.aai7866

Abstract There is no effective treatment for amyotrophic lateral sclerosis (ALS), a devastating motor neuron disease. However, discovery of a G4C2 repeat expansion in the C9ORF72 gene as the most common genetic cause of ALS has opened up new avenues for therapeutic intervention for this form of ALS. G4C2 repeat expansion RNAs and proteins of repeating dipeptides synthesized from these transcripts are believed to play a key role in C9ORF72-associated ALS (c9ALS). Therapeutics that target G4C2 RNA, such as antisense oligonucleotides (ASOs) and small molecules, are thus being actively investigated. A limitation in moving such treatments from bench to bedside is a lack of pharmacodynamic markers for use in clinical trials. We explored whether poly(GP) proteins translated from G4C2 RNA could serve such a purpose. Poly(GP) proteins were detected in cerebrospinal fluid (CSF) and in peripheral blood mononuclear cells from c9ALS patients and, notably, from asymptomatic C9ORF72 mutation carriers. Moreover, CSF poly(GP) proteins remained relatively constant over time, boding well for their use in gauging biochemical responses to potential treatments. Treating c9ALS patient cells or a mouse model of c9ALS with ASOs that target G4C2 RNA resulted in decreased intracellular and extracellular poly(GP) proteins. This decrease paralleled reductions in G4C2 RNA and downstream G4C2 RNAmediated events. These findings indicate that tracking poly(GP) proteins in CSF could provide a means to assess target engagement of G4C2 RNAbased therapies in symptomatic C9ORF72 repeat expansion carriers and presymptomatic individuals who are expected to benefit from early therapeutic intervention.

2017 Medical Xpress

The most common genetic cause of the brain diseases frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is a mutation in the C9orf72 gene. Researchers from VIB and UAntwerp, headed by Prof. Christine Van ...

Misfolded proteins associated with Parkinson's disease were detected in cerebrospinal fluid by scientists at McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), paving the way to ...

Flinders University researchers are pioneering a new and simple test to pick up signals of Motor Neuron Disease in patients.

A simple blood test may be as accurate as a spinal fluid test when trying to determine whether symptoms are caused by Parkinson's disease or another atypical parkinsonism disorder, according to a new study published in the ...

A buildup of plaque and dysfunctional proteins in the brain are hallmarks of Alzheimer's disease. While much Alzheimer's research has focused on accumulation of the protein amyloid beta, researchers have begun to pay closer ...

Under ordinary circumstances, the protein tau contributes to the normal, healthy functioning of brain neurons. In some people, though, it collects into toxic tangles that damage brain cells. Such tangles are a hallmark of ...

Stanford scientists have identified a small group of neurons that communicates goings-on in the brain's respiratory control center to the structure responsible for generating arousal throughout the brain.

The part of the brain that creates mental maps of one's environment plays a much broader role in memory and learning than was previously thought, according to new research published this week in the journal Nature by researchers ...

The human brain's cerebellum controls the body's ability to tightly and accurately coordinate and time movements as fine as picking up a pin and as muscular as running a foot race. Now, Johns Hopkins researchers have added ...

The human brain is constantly abuzz with electrical activity as brain cells, called neurons, respond to sensory input and give rise to the world we perceive. Six particular regions of the brain, called face patches, contain ...

(Medical Xpress)A very large team of researchers with members from the U.S., Italy and the Netherlands has found what might be a marker for ALS, which the team suggests could be used as a yardstick for measuring the effectiveness ...

A new computer-based brain simulation shows that motor tics in Tourette syndrome may arise from interactions between multiple areas of the brain, rather than a single malfunctioning area, according to a study published in ...

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Possible genetic marker for ALS found might prove useful for measuring effectiveness of treatments - Medical Xpress

Pacific Business News (Honolulu)

Astaxanthin compound found to switch on the FOX03 'Longevity Gene' in mice Science Daily "All of us have the FOXO3 gene, which protects against aging in humans," said Dr. Bradley Willcox, MD, Professor and Director of Research at the Department of Geriatric Medicine, JABSOM, and Principal Investigator of the National Institutes of Health ... University of Hawaii, Cardax say study shows anti-aging potentialPacific Business News (Honolulu) Activation of 'longevity gene' could lead to promising anti-aging therapyKHON2 UH study: Compound found in seafood, algae 'activates' longevity geneHawaii News Now all 8 news articles »

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Astaxanthin compound found to switch on the FOX03 'Longevity Gene' in mice - Science Daily

KANNAPOLIS A person could be almost three times more likely to develop multiple sclerosis if they are carrying variants of two particular genes, according to the latest findings from scientists at Duke Health and The University of Texas Medical Branch at Galveston.

The finding, published in the March 23 issue of the journal Cell, could open the way for new tests to identify those at greatest risk of MS and autoimmune disorders, as well as the development of drugs, the researchers said.

The research used biospecimens from the MS cohort of the Measurement to Understand the Reclassification of Disease Of Cabarrus/Kannapolis ( MURDOCK ) Study. The MURDOCK Study is Duke Healths longitudinal clinical research study based at the North Carolina Research Campus in Kannapolis, N.C. The MURDOCK community registry and bio-repository includes more than 12,000 participants and nearly 460,000 biological specimens.

Multiple sclerosis is a major cause of neurological disease in younger adults between the ages of 20 and 50 and disproportionally affects women.

The disease causes the bodys own immune system to attack nerve cells in the spinal cord and brain, causing problems with vision, muscle control, balance and basic body functions. Other symptoms can occur, and could lead to permanent disability.

While treatable, current MS therapies have adverse side effects, as they focus on slowing the progression of the disease through suppression of the immune system. There is no cure for MS.

Our study identifies an interaction with a known MS risk gene to unlock a new MS candidate gene, and in doing so, establishing a novel mechanism that is associated with the risk of multiple sclerosis and other autoimmune diseases, said co-lead author Simon Gregory, Ph.D., director of Genomics and Epigenetics at the Duke Molecular Physiology Institute and principal investigator for the MURDOCK MS Study.

Gregory with colleagues at University of Texas Medical Branch, the University of California, Berkeley, and Case Western Reserve University found two particular DNA variants that appear to play a role in MS. One of these variants is in IL7R, a gene previously associated with MS, and the other in DDX39B, a gene not previously connected to the disease.

When the two are present in a persons genetic code, their interaction can lead to an over-production of a protein called sIL7R. That proteins interactions with the bodys immune system plays an important, but not completely understood, role in MS.

Researchers used MURDOCK biospecimens to examine the chromosomal differences between DDX39B and IL7R.

The researchers said this new information could potentially be used to craft new tests to diagnose multiple sclerosis, or to improve therapeutic toolkits to fight MS and other autoimmune disorders.

One could envision how this type of knowledge will someday lead to diagnose multiple sclerosis sooner and, now that we have promising therapies, a doctor could start the appropriate treatment more quickly. It is not out the realm of possibility to imagine a path for screening for other autoimmune diseases such as Type 1 Diabetes, said co-lead author Mariano Garcia-Blanco, M.D., Ph.D., professor and chair of the Department of Biochemistry and Molecular Biology at University of Texas Medical Branch.

In addition to Gregory and Garcia-Blanco, study authors include lead author Gaddiel Galarza, Farren B.S. Briggs, Irina Evsyukova, Geraldine Schott-Lerner, Edward M. Kennedy, Tinashe Nyanhete, Liuyang Wang, Laura Bergamaschi, Steven G. Widen, Georgia D. Tomaras, Dennis C. Ko, Shelton S. Bradrick and Lisa F. Barcellos.

The research was supported by the National Institutes of Health, National MS Society Pilot Award, Duke University Whitehead Scholarship, Ruth and A. Morris Williams Faculty Research Prize funds from Duke University School of Medicine, start-up funds from University of Texas Medical Branch and funds from Mr. Herman Stone and family for MS research.

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New Gene Interaction Appears to be Associated with Increased MS ... - Independent Tribune

Despite their focus on rare genetic syndromes, the researchers say their work will be helpful to the millions worldwide who have lost control of their weight for reasons other than genetics.

"If you know the gene and the function of the gene, then you know which biological mechanism is defective," said David Meyre, senior author of the study and an associate professor at McMaster University's School of Medicine in Ontario, Canada. This knowledge of obesity genetics, then, can be applied to more common forms of the condition, he said.

A case in point would be leptin, which is a hormone produced by the body's fat cells and is found to be deficient in some people due to genetic mutations. The gene responsible for producing the "satiety hormone," as leptin is known, was first identified in 1990. Since then, knowledge of this gene has shifted our understanding of fat cells and how weight gain occurs.

"The reason we studied this is very simple," said Meyre. "Every time I was writing a research paper and I was describing what we knew about the genetics of obesity, I didn't have a reference." One day, he decided to write the necessary reference himself, since he suspected the 20 to 30 commonly known genetic syndromes might be, in fact, an underestimation.

"For the study, we focused on monogenic forms of obesity," said Meyre. He explained that monogenic or "Mendelian" forms mean that if you have one mutation, you develop the disease. "It's not that it increases your risk, it's 100% sure you develop the disease," he said. For example, Huntington's disease, a progressive brain disorder that causes uncontrolled movements and loss of thinking ability, is caused by a single inherited gene mutation.

The monogenic obesity syndromes are very rare, Meyre noted, so rare they may collectively represent only 0.5% of the obese population in Canada -- one in a million births.

Meyre and his colleagues from McMaster University and University of British Columbia searched seven databases for papers on the topic. The team adopted a systematic strategy for reviewing the scientific literature, which included two independent reviews of each paper.

All told, the researchers analyzed 161 papers and found 79 obesity syndromes reported in the scientific literature.

"My intuition was correct," said Meyre.

In the monogenic obesity syndromes, not only does the genetic defect result in obesity but it also causes additional abnormal features, including mental disability, characteristic facial features, kidney disease and heart malformation.

Of the 79 syndromes identified, 19 had the genetics worked out completely so that a simple lab test would be able to confirm the condition. Another 11 had been partially clarified, while 27 had been mapped to a chromosomal region. For the remaining 22 syndromes, researchers had not yet identified the genes or location along the chromosomes.

"Identifying genes is very important for the families," said Meyre. He explained that some of the more common syndromes have been treated with a hormone that works very well to improve symptoms. If the genetics are worked out for each of these syndromes, that should enable scientists to find or develop appropriate treatments.

"We also hope that our study will help clinicians to recognize these syndromes," said Meyre. Since in the entire course of their careers, doctors may encounter just one, maybe two patients with these syndromes, most of the time, due to a lack of familiarity and information, the conditions go unrecognized and patients do not get help.

Additionally, the results will help scientists better understand the genes and molecules important to obesity among members of the general population.

Mary Freivogel, president of the National Society of Genetic Counselors, found the comprehensive nature of the new study to be a strength.

"One weakness of the study is that some of these obesity syndromes are so rare that it was not possible for the authors to determine how often the syndrome occurs in the general population nor how reliable the information reported about the syndrome was," said Freivogel, who played no part in the new study.

"Most of the obesity in the United States is NOT syndromic, said Freivogel. She explained that the overwhelming majority of cases are "polygenic and multifactorial," meaning it has resulted from a combination of multiple genetic factors, as well as environmental and lifestyle factors. Freivogel added that anyone wishing to undergo a genetic test might want to talk with a counselor to ensure the test is the right choice and any results are interpreted correctly.

Beales, who was not involved in the new study, also felt pleased that someone had updated this "specialised category of obesity." However, he disagrees with the recommendation proposed by Meyre and his co-authors to name each disease after the scientists who discovered them.

"This is an antiquated notion and unhelpful," said Beales, who observed the preferred name for DiGeorge syndrome -- a common genetic disorder resulting in cognitive impairment and other medical complications -- is now called Deletion22 syndrome, which is a more useful way to look at the disease.

Still, the work has its virtues, said Beales.

"I think where a catalogue of this nature is valuable is that it provides a good resource for researchers who are interested in extrapolating from rare to common," said Beales. "The Mendelian disorders have an untapped potential to reveal mechanistic insights (and possibly new treatments) to common (non-syndromic) obesity."

Dr. Liam R. Brunham, an assistant professor of medicine at University of British Columbia, said the most remarkable finding of the review may be that of the 79 obesity syndromes, the genetic basis of only one-quarter of them is known. Very likely, then, there is "a huge amount regarding the genetics of obesity that remains to be discovered," said Brunham. He was not involved in the study.

Using leptin as an example, Brunham said there's much that can be learned regarding the biology of obesity from even a single gene.

"This suggests that discovering the genetic basis of the remaining obesity syndromes will yield huge advances in our understanding of obesity, which could lead to new opportunities for its treatment and prevention," said Brunham.

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The weirder side of obesity: genetic forms of obesity are rare yet numerous - CNN

Cell Therapy Manufacturing Market, 2027: Partnerships / Collaborations have been Widespread and will Continue to act as Key Enablers

Dublin, March 28, 2017 -- Research and Markets has announced the addition of the "Cell Therapy Manufacturing Market, 2017-2027" report to their offering.

During the course of our study, we identified over 110 organizations that are actively involved in the manufacturing of cell therapies.

The scope of this report primarily includes manufacturing of advanced therapy medicinal products (ATMPs) that involve the use of immune cells such as T-cells, Tregs, dendritic cells, tumor cells and NK cells, and stem cells such as adult stem cells, human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs).

Several players, including cell therapy developers, research institutes, contract manufacturing organizations, and government and non-profit organizations, are playing a critical role in the development and manufacturing of these cell therapies. In fact, a number of these players have made heavy investments to expand their existing capabilities and establish new facilities for cell therapy products in order to meet the increasing demand.

Additionally, stakeholders have received significant support from governments worldwide, in terms of funding and establishment of consortiums to accelerate the transition of these therapies from laboratories to clinics. It is important to highlight that companies that offer logistics and operational services have developed systems / tools for safer and quicker delivery of therapies from manufacturing sites to patients; this has been identified as one of the key challenges in the overall development process.

Popular examples of approved cell-based therapies include (in order of their year of approval) Carticel, CreaVax-RCC, JACE, ReliNethra, PROVENGE and Prochymal. In addition, over 500 cell-based therapy candidates are currently in different stages of clinical development; these are being evaluated in over 1,000 active clinical studies in various regions across the globe. The growing number of cell therapy candidates, coupled with their rapid progression through the various phases of clinical development, continues to create an increasing demand for facilities that offer manufacturing services for these therapies.

The market already has a wide array of well-established players, mid-sized companies and start-ups. Several industry players as well as academic institutes are significantly contributing to the production of GMP grade cell types. In addition, the market has witnessed the entry of several players that offer novel technology solutions, aimed at improving and upgrading existing cell-based therapies and their manufacturing processes. We have observed that such players have signed multiple partnerships / collaborations with an aim to optimize, scale-up and expand the capabilities for production of cell-based therapies.

Key Topics Covered:

1. PREFACE

2. EXECUTIVE SUMMARY

3. CELL THERAPY MANUFACTURING: INTRODUCTION 3.1. Context and Background 3.2. Cell-based Therapies: Introduction 3.3. Cell Therapy Manufacturing: An Introduction 3.4. Cell-based Therapies Manufacturing: Key Challenges 3.5. Cell Therapy Manufacturing: Types of Manufacturers 3.6. Cell Therapy Manufacturing: Other Important Considerations 3.7. Cell Therapy Manufacturing: Regulatory Landscape

4. MARKET OVERVIEW 4.1. Chapter Overview 4.2. Cell Therapy Manufacturing: Overall Market Landscape 4.3. Cell Therapy Manufacturing: Role of Logistic Service Providers

5. ROADMAPS: POTENTIAL STRATEGIES TO OVERCOME EXISTING CHALLENGES 5.1. Chapter Overview 5.2. Roadmap for the United States 5.3. Roadmaps for Other Geographies

6. CELL THERAPY MANUFACTURING: IN-HOUSE MANUFACTURERS 6.1. Chapter Overview 6.2. Argos Therapeutics 6.3. Bavarian Nordic 6.4. Cytori Therapeutics 6.5. Juno Therapeutics 6.6. MEDIPOST 6.7. SOTIO (Acquired by PPF Group) 6.8. Stemedica Cell Technologies

7. CELL THERAPY MANUFACTURING: INDUSTRY PLAYERS 7.1. Chapter Overview 7.2. Cell and Gene Therapy Catapult 7.3. CELLforCURE 7.4. Lonza 7.5. PharmaCell 7.6. PCT, a Caladrius Company 7.7. Roslin Cell Therapies 7.8. Waisman Biomanufacturing

8. CELL THERAPY MANUFACTURING: NON-INDUSTRY PLAYERS 8.1. Chapter Overview 8.2. Center for Cell and Gene Therapy, Baylor College of Medicine, US 8.3. Centre for Cell Manufacturing Ireland, National University of Ireland, Ireland 8.4. Clinical Cell and Vaccine Production Facility, University of Pennsylvania, US 8.5. Guy's And St. Thomas' GMP Facility, Guy's Hospital, UK 8.6. Newcastle Cellular Therapies Facility, Newcastle University, UK 8.7. Rayne Cell Therapy Suite, King's College London, UK 8.8. Scottish National Blood Transfusion Services Cellular Therapy Facility, Scottish Centre of Regenerative Medicine, UK 8.9. Laboratory of Cell and Gene Medicine, Stanford University, US

9. ROLE OF NON-PROFIT ORGANIZATIONS 9.1. Chapter overview 9.2. Cell Therapy Manufacturing: List of Non-Profit Organizations 9.3. Cell Therapy Manufacturing: International Societies

10. RECENT DEVELOPMENTS 10.1. Chapter Overview 10.2. Collaboration / Agreement Models 10.3. Cell Therapy Manufacturing: List of Collaborations 10.4. Cell Therapy Manufacturing: Partnership Analysis

11. MARKET SIZING AND FORECAST 11.1. Context and Background 11.2. Forecast Methodology 11.3. Cell Therapy Manufacturing Market, 2017-2027 11.4. Cell Therapy Manufacturing Market: Regional View

12. SWOT ANALYSIS

13. CONCLUSION 13.1. A Growing Pipeline of Cell Therapy Products is Likely to Increase the Demand for Manufacturing of Cell-based Therapies 13.2. Stakeholders are Continuously Striving to Overcome Existing Challenges 13.3. Developed Economies have Emerged as Prominent Hubs for Cell Therapy Manufacturing 13.4. Both Industry and Academia have Jointly Led the Initiatives; The Trend is Likely to Persist in the Near Term 13.5. Partnerships / Collaborations have been Widespread and will Continue to act as Key Enablers 13.6. The Manufacturing of Cell-based Therapies is Likely to Become a Multi-billion Dollar Market in the Coming Decade

14. SURVEY ANALYSIS 14.1. Chapter Overview 14.2. Seniority Level of Respondents 14.3. Type of Cell Therapy 14.4. Scale of Operation 14.5. Source of Cells 14.6. Type of Cell Culture System 14.7. Fill / Finish Service

15. INTERVIEW TRANSCRIPTS 15.1. Chapter Overview 15.2. Tim Oldham, CEO, Cell Therapies 15.3. Brian Dattilo, Manager of Business Development, Waisman Biomanufacturing 15.4. Mathilde Girard, Department Leader, Cell Therapy Innovation and Development, YposKesi 15.5. Dr. Gerard J Bos (CEO, CiMaas)

16. APPENDIX: TABULATED DATA

17. APPENDIX: LIST OF COMPANIES AND RESEARCH ORGANIZATIONS

For more information about this report visit http://www.researchandmarkets.com/research/bvlctq/cell_therapy

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Cell Therapy Manufacturing Market, 2027: Partnerships / Collaborations have been Widespread and will Continue to ... - EconoTimes

THURSDAY, March 23, 2017 (HealthDay News) -- Researchers say they have found the genetic cause of a rare disorder that causes children to be born with deafness, blindness, albinism and fragile bones.

The syndrome is called COMMAD. It occurs when children inherit two mutations -- one from each parent -- of a gene called MITF. Each parent is also deaf due to another rare genetic disorder called Waardenburg syndrome 2A.

Further research is needed to learn more about the role of MITF during early development and how mutations in this gene result in the development of Waardenburg 2A and COMMAD, said researchers from the U.S. National Eye Institute (NEI).

COMMAD stands for the names of a number of conditions that affect people with this disorder. It includes missing tissue around the eye; abnormally dense bones prone to fracture; small or abnormally formed eyes; an abnormally large head; albinism (lack of melanin in the skin, eyes and hair), and deafness.

Identifying the genetic cause of COMMAD is important because deaf people commonly choose to marry other deaf persons. People who are deaf may not know that their deafness is associated with Waardenburg 2A, the researchers explained.

Deaf couples may want to consider genetic counseling prior to conceiving a child. If both potential parents have Waardenburg 2A, they risk passing mutated versions of MITF to their children, who would then have COMMAD, study lead author Dr. Brian Brooks said in a NEI news release.

Brooks is chief of the NEI's Pediatric, Developmental, and Genetic Ophthalmology section.

The study describes two unrelated cases of children born with COMMAD who inherited the two mutations of MITF from their parents.

Most people who are born deaf don't have Waardenburg 2A. Along with hearing loss, people with the syndrome have premature graying of the hair, blue eyes, fair skin and sometimes vision problems, the researchers said.

The study was published recently in the American Journal of Human Genetics.

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Scientists Spot Gene for Rare Disorder Causing Deafness, Blindness - Sioux City Journal

Science Daily

Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder Science Daily In a first-of-its-kind study published in the March 1, 2017 edition of Molecular Therapy, researchers from the National Institute on Deafness and Other Communication Disorders (NIDCD) and Johns Hopkins University School of Medicine showed that gene ...

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Novel gene therapy experiment offers hope for people with certain hearing loss and dizziness disorder - Science Daily

Ran Yingying, a former state television presenter, is also the wife of Chinese Boxing Association flyweight champion Zou Shiming. Recently, Ran drew attention for posting the test scores of her 6-year-old sons commercial genetic test, which had come up with a series of figures covering everything from his ability to learn languages to music appreciation, athletic ability, interpersonal skills, and aptitude for mathematics.

It looks like the son of Chinas most successful boxer did not get his fathers sports genes, Ran wrote, mostly in jest. Her post was forwarded tens of thousands of times, with manycommenters saying they want to perform similar tests on themselves or their kids.

Such genetic tests have become so popular that in late 2015, 22 experts in the fields of genomics and sports science published a statementin the British Journal of Sports Medicine saying that no child or young athlete should be subjected to genetic testing to spot athletic talent or boost performance. They concluded that the scientific evidence on the effectiveness of these commercial tests is simply far too weak to back their use.

Public demand is running high regardless. With varying levels of scientific support, startups are already offering a wide array of genetic tests, be they screenings for health risks or predictors of personality.

The test taken by Rans child cost 6,500 yuan ($940) and was developed by DaAn Gene, a Guangzhou-based genomics company that only began offering personal genetic testing products in 2015. Affiliated with Sun Yat-sen University, DaAn had been focusing on research-related gene studies and working with institutions. It was only in the past two years that it started targeting members of the public as customers.

In China, there are over 150 genomics firms. Currently, 70 percent of them mainly offer gene-testing services, and an increasing number of them have started to offer tests to individual consumers. With attractive advertisements and mysteriously advanced technology, genomics firms have become attractive choices for investors. A rough calculation byCN Healthcaresays that 40 Chinese gene companies received investment in 2016, worth over 80 billion yuan in total.

According to the National Human Genome Research Institute in the U.S., genome sequencing costs started to fall sharply in 2007, when the cost per genome was around $10 million. By 2015, that number had dropped to less than$1,000.

As these businesses increasingly target the public, two types of gene companies have emerged: On one side, there are the traditional gene technology companies that entered the market before 2012; on the other side are the startups targeting individual customers and promoting the commercial use of genomics.

The young startups frame the debate as established gene companies turning their backs on ordinary consumers, while the traditional companies claim that many of these consumer-focused businesses are distorting genetic science. Li Ruiqiang, CEO of Beijing-based Novogene, says his company would never offer talent tests, as they only choose to do things that are scientifically reliable.

But at the same time, there are also companies like DaAn Gene that cover both professional and personal tests. As a leading company in the genomics industry, its our responsibility to help more people learn about gene studies, with lower prices and from a simpler angle,a spokesperson at DaAn Gene told Chinese business newspaper 21st Century in 2015.

A Changing Industry

China has strict rules for public hospitals hoping to distribute gene products developed by private companies: An official approval from the China Food and Drug Administration is needed, but in a general sense, the official attitude appears to favor the wider use of gene technology in medical fields. In 2015, the Chinese health ministry for the first time allowed107 hospitalsto conduct non-invasive prenatal tests (NIPTs). One year later, the ban was lifted, and all hospitals with an obstetrics department could do the test.

Worldwide, DNA-based tests are available for over1,500 diseasesin people of all ages, yet so far in China, the NIPT, which costs about 2,000 yuan per test, is the most common and screens for three kinds of genetic disease.

Although the government has allowed nearly all hospitals to conduct NIPTs, these tests which involve widely accepted science, still arent a direction many startup companies plan to specialize in. This is largely because two companies,Berry Genomicsand BGI, basically dominate the NIPT service market, leaving slim opportunities for newcomers.

Zheng Hongkun founded Biomarker Technologies in 2009 after working at BGI for nine years. With an estimated market value of 1 billion yuan, his company develops sequencing technologies and provides data and sequencing services for research institutes. Zheng says Biomarker will put more effort into developing genetic applications for early tumor detection and more precise medical treatment. Apart from reproductive health, tumors are the other area in which genomics can play an important role, he adds.

Gene data mining and analysis remain challenging areas, but they also have the biggest potential, says Zheng. In order to apply this to disease detection and medical treatment, we need more data to study and experiment on.

After doing two genetic tests, Huang Jinzhang, the former editor-in-chief of Phoenix Weekly, decided to start his own genomics company, Gese DNA, which focuses on providing readable content. The aim is to present information in a straightforward way, without technical jargon or figures.

I did genetic tests twice in 2013 with a very famous, very professional genomics company, and they gave me a report: a 14-megabyte document full of genetic code which I could not decipher by myself, Huang told China Newsweek magazine in December 2016. Afterward, he decided to develop a more user-friendly alternative.

The package offered by Gese DNA, which costs 499 yuan, claims to answer questions relating to six aspects of health and character for example, how fast you can learn new things, whether youre easily addicted to something, or if you have an introverted personality. If youre a man, it can even tell you the probability that youll go bald.

Compared to medical uses like NIPT and tumor treatment, personal genetic tests, which purport to answer peoples questions about their health, lifestyle, and personality, tend to be more explicit, have less scientific backing, and be less regulated.

On Taobao, Chinas largest online e-commerce platform, there are clear rules banning the sale of these genetic products, although gene-testing packages, ranging in price from 99 to 2,999 yuan, can still be found at over 40 stores. Most of these target parents who want to find out more about their childrens talents.

Though recognized by many people and favored by startups and venture capitalists, genetic tests remain controversial. If a parent forces their child whose genes showed athletic ability to play sports even though the child prefers piano, or if an employer wants to see the test results, there are obvious ethical problems, says Huang Shangzhi, a professor at Peking Union Medical College Hospital in Beijing.

A controversial business model

But ethical issues and accuracy are not primary concerns for many businesspeople. WeGene, another personal genetics company, not only generates talent reports, but also gives health resolution packages that include advice on losing weight or curing insomnia.

Selling health solutions to consumers is a common business model applied by companies, but there is also another approach: data collection.

California-based23andMe has become a role model for many Chinese genomics companies. Initially a personal genetics startup, 23andMe has now become a research company that partners with drug developers and medical institutions. In 2015, it announced adeal with Pfizer, giving the giant drugmaker access to data it collected from 650,000 individuals.

Marcy Darnovsky, executive director of the Center for Genetics and Society, wrote in an articlecriticizing 23andMe: Once you part with your genetic information, there cant be guarantees of privacy and anonymity.

Will 23andMes Chinese acolytes follow a similar path to monetization by selling data? Cheng says that companies like Gese DNA and WeGene can certainly accumulate a lot of data, which is a core component for genetic research.

Personal genetic testing startups can see a path to becoming data-oriented research companies, provided they can get enough private data and permission to use it. Alternatively, they can try to develop their medical teams, becoming more service-oriented by partnering with hospitals and medical institutions to offer health solutions.

The qualifications to decode genes could be a determining factorfor startups, Professor Huang says. For talent tests, accuracy might not be vital, but medical treatment is different and Huang says China lacks trained genetic consultants. The genetic test results are useful tools for clinical diagnosis and treatment, but only people with both genetic knowledge and clinical experience can make sense of the data, he says, adding that only an estimated 5 percent of doctors in China are qualified to do this.

Speculating about the future of the genomics industry, Huang says that genetic tests alone cannot constitute an industry. While ensuring data security, companies will have to work together to share and integrate data resources to develop either health consultancies for ordinary people or disease treatment for the medical industry, he says. In either case, these gene companies cannot work alone they have to work with hospitals, drugmakers, or other research institutes.

This is an original article by CKGSB Knowledge and has been used with their permission. The article was first published here on Feb. 8, 2017.

(Header image: A laboratory technician holds a centrifuged blood sample to be used in a genetic test in Xian, Shaanxi province, Dec. 1, 2016. Wei Yongxian/VCG)

Link:
Code and Capital: Genetic Testing in China - Sixth Tone