StemCell Therapy

Every year, the MIT Technology Reviewputs its considerable brainpower into seeing what technological advances will shape the year ahead. Those technologies could range from manufacturing, like 3D Metal Printing in 2018, to the cow-free burger, as chosen by Bill Gates in 2019.

The point here is that all of these technologies genuinely have the potential to change how we live and work. I mean, one of the tech items chosen in 2011 was Facebooks Social Indexing, and we all know how that changed us.

The list this year ranges from privacy to anti-aging treatments that work, and various technologies using quantum mechanics in weird, unique ways.

Heres the full list, complete with links to MIT Technology Reviews blog post so you can learn more:

Phew, thats a lot of things to watch this year. I could really do with some of that anti-aging stuff though, like right now.

What do you think? Do you agree with this list? What other technologies do you believe deserve to be on here? Let us know down below in the comments or carry the discussion over to ourTwitterorFacebook.

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MIT Technology Reviews 10 breakthrough technologies to watch in 2020 - KnowTechie

When you first meet her, you wont be able to tell that Ipek Kuzu suffers from a rare genetic disease. The three-year-old plays happily on her own for hours, driving her toy cars and cooking in her pretend kitchen. But shes not well. Shes a little wobbly on her feet and doesnt say much, and if nothing is done, she may die by her mid-20s. Ipek has ataxia-telangiectasia, or A-T, a disease caused by an error in her DNA. It causes the loss of brain cells, along with a high risk of infection and cancer.

Its the sort of problem that makes doctors shake their heads. But Ipeks father, Mehmet, and mother, Tugba, hope shell escape that fate. Thanks in part to the persistence of Mehmet, a programmer at Google, in January she became one of the first handful of US patients to receive a hyper-personalized gene medicine, tailored to treat a unique mutation. The one-person drug, designed for her by a Boston doctor, Timothy Yu, is being called atipeksen, for A-T and Ipek.

To create atipeksen, Yu borrowed from recent biotech successes like gene therapy. Some new drugs, including cancer therapies, treat disease by directly manipulating genetic information inside a patients cells. Now doctors like Yu find they can alter those treatments as if they were digital programs. Change the code, reprogram the drug, and theres a chance of treating many genetic diseases, even those as unusual as Ipeks.

The new strategy could in theory help millions of people living with rare diseases, the vast majority of which are caused by genetic typos and have no treatment. US regulators say last year they fielded more than 80 requests to allow genetic treatments for individuals or very small groups, and that they may take steps to make tailor-made medicines easier to try. New technologies, including custom gene-editing treatments using CRISPR, are coming next.

Where it had taken decades for Ionis to perfect its drug, Yu now set a record: it took only eight months for Yu to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

I never thought we would be in a position to even contemplate trying to help these patients, says Stanley Crooke, a biotechnology entrepreneur and founder of Ionis Pharmaceuticals, based in Carlsbad, California. Its an astonishing moment.

Antisense drug

Right now, though, insurance companies wont pay for individualized gene drugs, and no company is making them (though some plan to). Only a few patients have ever gotten them, usually after heroic feats of arm-twisting and fundraising. And its no mistake that programmers like Mehmet Kuzu, who works on data privacy, are among the first to pursue individualized drugs. As computer scientists, they get it. This is all code, says Ethan Perlstein, chief scientific officer at the Christopher and Dana Reeve Foundation.

A nonprofit, the A-T Childrens Project, funded most of the cost of designing and making Ipeks drug. For Brad Margus, who created the foundation in 1993 after his two sons were diagnosed with A-T, the change between then and now couldnt be more dramatic. Weve raised so much money, weve funded so much research, but its so frustrating that the biology just kept getting more and more complex, he says. Now, were suddenly presented with this opportunity to just fix the problem at its source.

Ipek was only a few months old when her father began looking for a cure. A geneticist friend sent him a paper describing a possible treatment for her exact form of A-T, and Kuzu flew from Sunnyvale, California, to Los Angeles to meet the scientists behind the research. But they said no one had tried the drug in people: We need many more years to make this happen, they told him.

Courtesy Photo (Yu)

Kuzu didnt have years. After he returned from Los Angeles, Margus handed him a thumb drive with a video of a talk by Yu, a doctor at Boston Childrens Hospital, who described how he planned to treat a young girl with Batten disease (a different neurodegenerative condition) in what press reports would later dub a stunning illustration of personalized genomic medicine. Kuzu realized Yu was using the very same gene technology the Los Angeles scientists had dismissed as a pipe dream.

That technology is called antisense. Inside a cell, DNA encodes information to make proteins. Between the DNA and the protein, though, come messenger molecules called RNA that ferry the gene information out of the nucleus. Think of antisense as mirror-image molecules that stick to specific RNA messages, letter for letter, blocking them from being made into proteins. Its possible to silence a gene this way, and sometimes to overcome errors, too.

Though the first antisense drugs appeared 20 years ago, the concept achieved its first blockbuster success only in 2016. Thats when a drug called nusinersen, made by Ionis, was approved to treat children with spinal muscular atrophy, a genetic disease that would otherwise kill them by their second birthday.

Yu, a specialist in gene sequencing, had not worked with antisense before, but once hed identified the genetic error causing Batten disease in his young patient, Mila Makovec, it became apparent to him he didnt have to stop there. If he knew the gene error, why not create a gene drug? All of a sudden a lightbulb went off, Yu says. Couldnt one try to reverse this? It was such an appealing idea, and such a simple idea, that we basically just found ourselves unable to let that go.

Yu admits it was bold to suggest his idea to Milas mother, Julia Vitarello. But he was not starting from scratch. In a demonstration of how modular biotech drugs may become, he based milasen on the same chemistry backbone as the Ionis drug, except he made Milas particular mutation the genetic target. Where it had taken decades for Ionis to perfect a drug, Yu now set a record: it took only eight months for him to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

Whats different now is that someone like Tim Yu can develop a drug with no prior familiarity with this technology, says Art Krieg, chief scientific officer at Checkmate Pharmaceuticals, based in Cambridge, Massachusetts.

Source code

As word got out about milasen, Yu heard from more than a hundred families asking for his help. Thats put the Boston doctor in a tough position. Yu has plans to try antisense to treat a dozen kids with different diseases, but he knows its not the right approach for everyone, and hes still learning which diseases might be most amenable. And nothing is ever simpleor cheap. Each new version of a drug can behave differently and requires costly safety tests in animals.

Kuzu had the advantage that the Los Angeles researchers had already shown antisense might work. Whats more, Margus agreed that the A-T Childrens Project would help fund the research. But it wouldnt be fair to make the treatment just for Ipek if the foundation was paying for it. So Margus and Yu decided to test antisense drugs in the cells of three young A-T patients, including Ipek. Whichever kids cells responded best would get picked.

Matthew Monteith

While he waited for the test results, Kuzu raised about $200,000 from friends and coworkers at Google. One day, an email landed in his in-box from another Google employee who was fundraising to help a sick child. As he read it, Kuzu felt a jolt of recognition: his coworker, Jennifer Seth, was also working with Yu.

Seths daughter Lydia was born in December 2018. The baby, with beautiful chubby cheeks, carries a mutation that causes seizures and may lead to severe disabilities. Seths husband Rohan, a well-connected Silicon Valley entrepreneur, refers to the problem as a tiny random mutation in her source code. The Seths have raised more than $2 million, much of it from co-workers.

Custom drug

By then, Yu was ready to give Kuzu the good news: Ipeks cells had responded the best. So last September the family packed up and moved from California to Cambridge, Massachusetts, so Ipek could start getting atipeksen. The toddler got her first dose this January, under general anesthesia, through a lumbar puncture into her spine.

After a year, the Kuzus hope to learn whether or not the drug is helping. Doctors will track her brain volume and measure biomarkers in Ipeks cerebrospinal fluid as a readout of how her disease is progressing. And a team at Johns Hopkins will help compare her movements with those of other kids, both with and without A-T, to observe whether the expected disease symptoms are delayed.

One serious challenge facing gene drugs for individuals is that short of a healing miracle, it may ultimately be impossible to be sure they really work. Thats because the speed with which diseases like A-T progress can vary widely from person to person. Proving a drug is effective, or revealing that its a dud, almost always requires collecting data from many patients, not just one. Its important for parents who are ready to pay anything, try anything, to appreciate that experimental treatments often dont work, says Holly Fernandez Lynch, a lawyer and ethicist at the University of Pennsylvania. There are risks. Trying one could foreclose other options and even hasten death.

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Kuzu says his family weighed the risks and benefits. Since this is the first time for this kind of drug, we were a little scared, he says. But, he concluded, theres nothing else to do. This is the only thing that might give hope to us and the other families.

Another obstacle to ultra-personal drugs is that insurance wont pay for them. And so far, pharmaceutical companies arent interested either. They prioritize drugs that can be sold thousands of times, but as far as anyone knows, Ipek is the only person alive with her exact mutation. That leaves families facing extraordinary financial demands that only the wealthy, lucky, or well connected can meet. Developing Ipeks treatment has already cost $1.9 million, Margus estimates.

Some scientists think agencies such as the US National Institutes of Health should help fund the research, and will press their case at a meeting in Bethesda, Maryland, in April. Help could also come from the Food and Drug Administration, which is developing guidelines that may speed the work of doctors like Yu. The agency will receive updates on Mila and other patients if any of them experience severe side effects.

The FDA is also considering giving doctors more leeway to modify genetic drugs to try in new patients without securing new permissions each time. Peter Marks, director of the FDAs Center for Biologics Evaluation and Research, likens traditional drug manufacturing to factories that mass-produce identical T-shirts. But, he points out, its now possible to order an individual basic T-shirt embroidered with a company logo. So drug manufacturing could become more customized too, Marks believes.

Custom drugs carrying exactly the message a sick kids body needs? If we get there, credit will go to companies like Ionis that developed the new types of gene medicine. But it should also go to the Kuzusand to Brad Margus, Rohan Seth, Julia Vitarello, and all the other parents who are trying save their kids. In doing so, they are turning hyper-personalized medicine into reality.

Erika Check Hayden is director of the science communication program at the University of California, Santa Cruz.

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If DNA is like software, can we just fix the code? - MIT Technology Review

To characterize different patterns of variability of three repeated within-visit blood pressure (BP) readings and to determine the prevalence of specific variation trends in systolic (SBP), diastolic (DBP) blood pressure and pulse pressure (PP).Data from 53737 subjects from the National Health and Nutrition Examination Survey were analyzed. In each subject, three consecutive BP measurements were performed with a minimum time-interval of at least 30s. We propose three patterns of within-visit BP variability (separately for SBP, DBP and PP): (1) increasing trend (BP3>BP2>BP1); (2) decreasing trend (BP1>BP2>BP3) and (3) no trend (BP3BP2BP1). A threshold of minimum change (P>3mmHg) between BP1-BP2 and BP2-BP3 was also applied as a prerequisite for the definition of these trends.An increasing trend was observed among three consecutive measurements of SBP, DBP and PP in 7.4, 10.4 and 10.2%, respectively. When a minimum threshold of 3mmHg was set the respective increasing trends were observed in 1.8, 2.9 and 4.4%, respectively. There was a higher prevalence of decreasing trend within three consecutive SBP, DBP and PP readings: 17, 13.1 and 16.2%, respectively, whereas using a threshold of P >3mmHg the respective prevalence was 6.3, 4.1 and 7.7%. A maximum absolute difference >10mmHg within triplicate of SBP/DBP/PP readings was observed in 12.9, 13 and 29.4%, respectively. In the era of personalized medicine, these patterns are well worth further investigation concerning their pathophysiologic and clinical relevance.

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A cohort-based comprehensive characterization of different patterns of very short-term, within-visit, blood pressure variability. - Physician's Weekly

during the forecast period. The growth in this market is attributed to technological advancements in single-cell analysis products, increasing government funding for cell-based research, growing biotechnology and biopharmaceutical industries, wide applications of single-cell analysis in cancer research, growing focus on personalized medicine, and the increasing incidence and prevalence of chronic and infectious diseases.

New York, Feb. 28, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Single-cell Analysis Market by Cell Type, Product, Technique, Application, End User - Global Forecasts to 2025" - https://www.reportlinker.com/p04579530/?utm_source=GNW However, the high cost of single-cell analysis products is expected to restrain the growth of this market to a certain extent during the forecast period.

The academic & research laboratories segment accounted for the largest market share in 2018On the basis of end user, the single-cell analysis market is segmented into academic and research laboratories, biotechnology and pharmaceutical companies, hospitals and diagnostic laboratories, and cell banks and IVF centers.The academic and research laboratories segment accounted for the largest market share in 2018.

Factors such as growth in funding for life science research and the increasing number of medical colleges and universities are driving the growth of this end-user segment.

Flow cytometry is the largest technique segment of the single-cell analysis marketBased on technique, the single-cell analysis market is segmented into flow cytometry, NGS, PCR, microscopy, mass spectrometry, and other techniques.The flow cytometry segment accounted for the largest market share in 2018.

The large share of this segment is attributed to the wide usage of flow cytometry in detecting and measuring the physical and chemical characteristics of a population of cells or particles.

North America will continue to dominate the single-cell analysis market in 2025The single-cell analysis market, by region, is segmented into North America, Europe, Asia Pacific, Latin America, and the Middle East & Africa.In 2018, North America accounted for the largest share of the single-cell analysis market.

The large share of North America can be attributed to the increasing drug development activities in the pharmaceutical and biotechnology industries, rising prevalence of chronic and infectious diseases, and an increase in stem cell research activities.

The breakup of primary participants is as mentioned below: By Company Type - Tier 1: 45%, Tier 2: 30%, and Tier 3: 25% By Designation - C-level: 35%, Director-level: 25%, and Others: 40% By Region - North America: 40%, Europe: 20%, Asia Pacific: 25%, Latin America: 10%, and the Middle East & Africa: 5%

Prominent players in the single-cell analysis market include Becton, Dickinson and Company (US), Danaher Corporation (US), Merck Millipore (US), QIAGEN (Netherlands), Thermo Fisher Scientific (US), General Electric Company (US), 10x Genomics (US), Promega Corporation (US), Illumina (US), Bio-Rad Laboratories (US), Fluidigm Corporation (US), Agilent Technologies (US), NanoString Technologies (US), Tecan Group (Switzerland), Sartorius AG (Germany), Luminex Corporation (US), Takara Bio (Japan), Fluxion Biosciences (US), Menarini Silicon Biosystems (Italy), and LumaCyte (US).

Research Coverage:The report analyzes the single-cell analysis market and aims at estimating the market size and future growth potential of this market based on various segments such as product, cell type, technique, application, end user, and region. The report also provides a competitive analysis of the key players in this market, along with their company profiles, product offerings, recent developments, and key market strategies.

Reasons to Buy the ReportThe report will enrich established firms as well as new entrants/smaller firms to gauge the pulse of the market, which, in turn, would help them garner a greater share of the market. Firms purchasing the report could use one or a combination of the below-mentioned strategies to strengthen their positions in the market.

This report provides insights into: Market Penetration: Comprehensive information on the product portfolios of the top players in the single-cell analysis market. The report analyzes this market by product, application, cell type, technique, end user, and region Market Development: Comprehensive information on the lucrative emerging markets by product, application, cell type, technique, end user, and region Market Diversification: Exhaustive information about products, growing geographies, recent developments, and investments in the single-cell analysis market Competitive Assessment: In-depth assessment of market shares, growth strategies, product offerings, and capabilities of leading players in the single-cell analysis marketRead the full report: https://www.reportlinker.com/p04579530/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The global single-cell analysis market is projected to reach USD 5.6 billion by 2025 from USD 2.1 billion in 2019, at a CAGR of 17.8% - Yahoo Finance

Machine learning is helping Penn Medicine researchers identify the size and shape of brain networks in individual children, which may be useful for understanding psychiatric disorders. In a new study publishedin the journalNeuron,a multidisciplinary team showed how brain networks unique to each child can predict cognition. The study, which used machine learning techniques to analyze the functional magnetic resonance imaging (fMRI) scans of nearly 700 children, adolescents, and young adults, is the first to show that functional neuroanatomy can vary greatly among kids, and is refined during development.

The human brain has a pattern of folds and ridges on its surface that provide physical landmarks for finding brain areas. The functional networks that govern cognition have long been studied in humans by liningup activation patternsthe software of the brainto the hardware of these physical landmarks. However, this process assumes that the functions of the brain are located on the same landmarks in each person. This works well for many simple brain systems. However, multiple recent studies in adults have shown this is not the case for more complex brain systems responsible for executive functiona set of mental processes which includes self-control and attention. In these systems, the functional networks do not always line up with the brains physical landmarks of folds and ridges. Instead, each adult has their own specific layout. Until now, it was unknown how such person-specific networks might change as kids grow up, or relate to executive function.

The exciting part of this work is that we are now able to identify the spatial layout of these functional networks in individual kids, rather than looking at everyone using the same one size fits all approach, says senior authorTheodore D. Satterthwaite, an assistant professor of psychiatry in the Perelman School of Medicine. Like adults, we found that functional neuroanatomy varies quite a lot among different kidseach child has a unique pattern. Also like adults, the networks that vary the most between kids are the same executive networks responsible for regulating the sorts of behaviors that can often land adolescents in hot water, like risk taking and impulsivity.

Read more at Penn Medicine News.

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Machine learning identifies personalized brain networks in children - Penn: Office of University Communications

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Shares of Iovance Biotherapeutics shot up Tuesday on rumors the company could be up for sale. The news comes a day after the company said it intends to speak with regulatory agencies later this year about its programs in melanoma and cervical cancer.

First reported by Bloomberg, Iovance is reportedly working with a financial adviser about a potential sale following conversations about a potential takeover from a larger company. The information was provided by unidentified sources who are familiar with the matter, Bloomberg said. The news sent shares of Iovance up more than 30% in Tuesdays trading. Part of that boost was due to the companys fourth-quarter progress in its clinical pipeline. In anticipation of potential approval and commercialization of its lead candidates, Iovance said it was building its internal manufacturing capability, as well as expanding its commercial team and infrastructure.

While nothing has been formally stated, Benjamin Burnett, an analyst with Stifel Financial Inc. said in a note that acquiring Iovance would make sense for some companies, including Takeda Pharmaceutical and Gilead Sciences, Bloomberg reported. This morning, Takeda announced its intention to acquire celiac disease-focused PvP Biologics for $330 million to complement its gastrointestinal pipeline. Burnett said Iovance is one of the few cell therapy companies in the coverage of Stifel Financial that has been de-risked to a large degree by a proof-of-concept study. Because of that, Burnett said they can see how this might be one of the more interesting cell therapy take-out candidates.

Despite the potential for an acquisition, Iovance could opt to remain independent, the unidentified sources told Bloomberg. A representative for Iovance declined to comment, Bloomberg added.

San Carlos, Calif.-based Iovance specializes in cell therapy focused on treating solid tumors with tumor infiltrating lymphocyte (TIL) therapies. In a previous interview with BioSpace, Iovance Chief Executive Officer Maria Fardis explained that TIL technology is a boosting of the bodys natural immunity. The TIL is removed from a cancerous tumor, amplified in number through cell culture to attack the disease, then are reinserted into the tumor to do the work. Because the amplified TILs can attack the whole tumor, including any potential mutations, Fardis described it as the most exquisite kind of personalized medicine for a patient.

Iovances investigational candidates include lifileucel, which is being investigated as a potential treatment for melanoma and LN-145, a potential treatment for patients with recurrent, metastatic or persistent cervical carcinoma. Lifileucel has received both fast-track and regenerative medicine advanced therapy from the U.S. Food and Drug Administration in melanoma, a common type of skin cancer, accounting for approximately 96,000 patients diagnosed annually and 7,200 deaths each year in the United States, Fardis said in a call with analysts Tuesday, according to transcripts.

In its most recent announcement regarding lifileucel in melanoma, the company reported an overall response rate (ORR) of 36.4% in 66 patients who were heavily pretreated.

The company is enrolling patients in a second pivotal study of LN-145 in patients with metastatic cervical cancer. During 2019, LN-145 received breakthrough therapy designation or BTD, as well as fast-track designation from the FDA. These designations were supported by compelling data demonstrating a 44% ORR from 27 patients in the ongoing study, Fardis said.

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Report: Iovance Exploring Potential Sale of the Company - BioSpace

The various technologies that make up IT infrastructure are the foundation for all the other forms of health IT that make hospitals and health systems operate effectively. As such, infrastructure technologies are among the most important in the healthcare information technology arena, and they must be operating optimally.

Here, three infrastructure technology experts from Cisco Systems, Dell Technologies and VMware offer best practices for optimizing infrastructure so that it is working best for individual healthcare provider organizations. They target their advice at healthcare CIOs and other health IT leaders who are looking to make sure their infrastructure is rock solid and humming along smoothly.

To fully optimize infrastructure, IT needs to plan for the entire business transformation journey to include reimagining their apps for the patient/clinician experience and then build the infrastructure for those experiences, said Kathryn Howe, Cisco healthcare director, Americas industry digital transformation.

Patients today need humanized experiences from healthcare providers, personalized interactions, easy access to information, and on-demand responses from clinicians, she explained. To keep up with the ever-changing patient needs, healthcare organizations are becoming more digitized, offering new apps and more. Adopting new technologies can create as many challenges as advantages if organizations focus only on optimizing IT infrastructure. IT needs a digital transformation framework to succeed.

Kathryn Howe, Cisco Systems

Integrating, securing and optimizing the IT infrastructure is the first step in the digital transformation framework, she said.

Its the enablement stage where healthcare providers optimize their IT infrastructures to digitize existing services, she noted. This step will streamline and enhance employee and customer experiences through primary offerings such as home care services, mobile engagement and location-based analytics. With the infrastructure in place, CIOs get to optimize their resources to deliver more value, such as implementing personalized engagement strategies, offering online support groups and virtual services.

The IT infrastructure is fully optimized when it is being used to power the organizations most sophisticated endeavors, she added, from new business models to disruptive digital experiences like AI-driven patient scheduling and predictive analytics.

On another front, typically, when a healthcare provider organization is looking to invest in an IT optimization project, it first considers its internal resources, specifically budget and the potential for staff disruption, said David Dimond, healthcare and life sciences chief innovation officer at Dell Technologies.

We can learn from some of the recent rocky implementations of electronic health records in which budgets exceeded expectations and significant delays were experienced in implementation and integration, he stated. According to one survey, 56% of respondentsdidnt believe that the challenges of adopting a new EHR system were equal to, or outweighed, the benefits of integration.

David Dimond, Dell Technologies

Examples like these have made healthcare organization boards circumspect in investing in digital health projects, Dimond contended.

This thinking is unfortunate, as some infrastructure optimizations can free up resources to invest in innovation, as is the case with multi-cloud deployment, he explained. Adopting, or optimizing, a multi-cloud infrastructure allows healthcare organizations to capture, process and access data significantly faster wherever it resides improving everything from patient care delivery to billing.

Just as every healthcare provider organization must have its own specific business model, each companys cloud strategy must match its specific clinical and business workload needs, he asserted.

Cloud strategies are ever-evolving, not simple one-off solutions, he said. Multi-cloud solutions have come a long way you adopt a hybrid cloud environment with an integrated cloud infrastructure compute, storage, networking and security that runs on premises and in public clouds. Organizations should expect consistent operations with infrastructure across private and public cloud, and the edge for a true hybrid cloud experience that is seamless to its end users.

For example, on-premises solutions may be optimal for certain workloads and ideal in terms of risk reduction and monitoring, while off-premises solutions offer better manageability, ease of procurement and cost, he said.

For this reason, every healthcare provider must decide their own workload priorities and optimize their cloud strategy to match the best location for data and applications, he said. A multi-cloud infrastructure provides a single pane of glass to identify and monitor the data across the healthcare ecosystem, simplifying intelligence at the point of care and collaboration among clinicians.

Christopher Logan, director of healthcare industry strategy at VMware, offers another best practice when optimizing infrastructure technology: operational automation.

Automation in healthcare, when coupled with emerging technologies like AI, does not get its fair amount of press or headlines, he said. When applying automation across/within the infrastructure, basic operational tasks and administration can result in a number of efficiencies like better patient experience, greater employee satisfaction, increased quality of services, improved project delivery and a significant reduction in cost.

Christopher Logan, VMware

Another best practice, he said, is workforce transformation.The workforce is constantly evolving, due to factors such as technological advancements and the demand for new skill sets.

Coupled with the fact that employees today have high expectations for their digital experiences, workforce transformation is critical in achieving broader digital transformation, he explained. It is imperative that all healthcare organizations find the right tools and technologies that provide employees with flexibility and secure access to ease IT management burdens and improve productivity.

This does not stop there, as providing a consistent user experience has the capability to transform both the patient and employee experience, which is critical for engagement and retention, he added.

When it comes to optimizing infrastructure, cybersecurity strategies need to permeate infrastructure as well as all levels of a healthcare provider organization, said Howe of Cisco.

Todays CIOs face more than the risk of costly data breaches, she said. Failing to meet standards like HIPAA can result in fines for up to $1.5 million per year. In order to protect patient data and meet compliance standards, CIOs need to enforce a strategy that permeates all layers of the organization, from technologies to the people.

At the network level, a fully integrated secure IT infrastructure will be key to enabling IT teams to maintain a pulse on all activities in real time and address potential risks before they occur, she advised.

An effective tactic is using micro-segmentation to limit the spread of attacks between devices and across the network by creating profiles, policies and permissions that are specific to those devices, reducing unauthorized access for all users, she said.

At the user level, it is vital to empower and train teams to keep data secure.

Implementing two-factor authentication platforms for patients, healthcare staff and third-party vendors should be a non-negotiable, and can help organizations stay compliant and safe by ensuring that only trusted users and devices can access certain sensitive applications or data, she cautioned. This is especially important as more healthcare organizations adopt remote access technologies and devices to deliver seamless connected experiences to patients and streamline workflows for clinicians.

Logan of VMware agrees with Howe that cybersecurity must be a big part of infrastructure optimization.

Sophistication and frequency of cyberattacks are increasingly placing a strain across all sectors, especially in healthcare, he noted. In order to navigate these complex and dynamic environments, healthcare organizations and their leaders must have a strong investment in digital technologies, and an even larger investment on cybersecurity strategies.

A proactive cybersecurity strategy and shift needs to continue happening across healthcare to protect patient data from security threats, ensuring the availability and integrity of critical healthcare workloads, he added.

Elsewhere, he said that hybrid and public cloud migration is an important part of infrastructure optimizxation.

Organizations across all industries are increasingly adopting hybrid and public cloud models, due to its offerings of scalability, agility and speed to market, he said. By making use of cloud solutions whether from Google, Amazon, Microsoft or another provider healthcare providers can simply scale the technical resources needed to run critical applications and drive cost savings.

At the same time, this is preparing those providers to adopt IT modernization to deliver dynamic on-demand services to meet the needs of their workforce and patients, he added.

The Internet of Things is a big part of healthcare IT infrastructure. An emerging focus for healthcare organizations is building out their IoT strategy.

IoT and edge solutions have been adopted by consumers, most notably, fitness trackers and smartwatches, said Dimond of Dell Technologies. A study by Statistafound that more than 56.7 million people wore wearables like smartwatches and Fitbits in 2019. This market will continue to grow and analysts predict the number of users will increase to 67 million people in 2022.

In an acute care setting, there are 10-15 connected devices for every U.S. hospital bed, which creates a significant amount of data, he noted. Overall, healthcare data grew 878%from 2016 to 2018, with much of it coming from sensors, wearables and mobile apps for preventative care and chronic disease management.

However, it is one thing to generate all this data, and quite another challenge to digest it all and generate patient insights. Healthcare providers are investing in distributed analytics to improve patient safety and monitor recovery, expand chronic disease management, enhance precision medicine through research, and manage pharmaceutical supply safety just to name a few applications, Dimond said.

Real-time analytics at the edge creates an opportunity to identify, refine and understand the data where it originates, for the fastest possible insights and action, he said. To support the distributed network of data-driven devices, healthcare organizations require a multi-faceted approach.

As healthcare provider organizations build their edge and IoT strategy, they need to evaluate their unique multi-cloud approach in parallel with specific application workloads, he advised.

Depending on classification, some data such as EHRs, laboratory information systems and clinical decision application data may be stored on-premises, he concluded. Other data may be stored in the cloud whether private, public or hybrid. It is important to consider how data can flow securely and efficiently from the edge to the data center and to multiple clouds.

Twitter:@SiwickiHealthITEmail the writer:bill.siwicki@himssmedia.comHealthcare IT News is a HIMSS Media publication.

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Tech optimization: Keeping infrastructure tech rock solid - Healthcare IT News

ST. PETERSBURG, Fla.--(BUSINESS WIRE)--InformedDNA, the nations largest independent provider of genetics services, today announced the addition of healthcare industry veterans to its executive leadership team and its board of directors. Paul Danao has joined the company as chief growth officer, responsible for driving revenue growth and retention through sales, marketing and client management. Dr. Jacqueline Kosecoff, a renowned healthcare industry expert, has joined InformedDNAs board as an independent director.

Founded in 2007, InformedDNA was the first company in the U.S. to use telephonic services to connect genetic counselors to patients. Since then, it has expanded to provide technology-led services to patients, healthcare providers, health systems, health plans, and life science organizations.

While the healthcare industry is in the infancy of a genomics revolution, its crucial for health systems, payers and providers to determine now how to infuse the rapid pace of discoveries into the healthcare ecosystem, said David Nixon, chief executive officer at InformedDNA. Jacqueline and Paul both have extensive executive leadership experience at major health plans and health systems. Each will no doubt make substantial contributions to InformedDNA, in their respective roles, as we help bring about a future in which genomics expertise will inform most healthcare decision-making, enabling true precision medicine to become a ubiquitous reality.

Dr. Kosecoff works in private equity to identify, select, mentor and manage health services and IT companies. She is managing partner at Moriah Partners, LLC, and senior advisor at Warburg Pincus. Previously, she served as a senior executive with UnitedHealth Group-PacifiCare where she was chief executive officer of OptumRx. Dr. Kosecoff was founder, president and chief operating officer of Protocare, and earlier, served as professor of Medicine and Public Health at the University of California, Los Angeles. She holds a B.A. from the University of California, Los Angeles, an M.S. in Applied Mathematics from Brown University, and a doctorate from the University of California, Los Angeles.

Said Dr. Kosecoff, Having been involved with InformedDNA as an advisor for the last year, Ive seen first-hand how the company brings a rare depth of genomics expertise to the healthcare industry, leading it to experience more than 50 percent annual growth in each of the last two years. I look forward to my new director role and increased interaction with the companys leaders as we enable additional healthcare companies to better understand the genomics space. This will facilitate better genetics-related decisions that result in more personalized care, improved outcomes, and lower costs.

Danao will focus on aligning sales, marketing and client management activities to deliver consistent and high-value contact to accelerate customer acquisition and retention. Prior to joining InformedDNA, he held senior leadership roles at several healthcare technology and service companies, including BlueCross BlueShield Association, AIM Specialty Health, and Healthcare Payment Specialists. Danao holds a B.B.A. from the University of Michigan and a Master of Health Services Administration from the University of Michigan School of Public Health.

This is a transformational time in the era of genetics-based medical care. InformedDNAs continued commitment to maintaining the highest level of genetics expertise and service excellence has already helped many leading U.S. healthcare organizations to decode the business of genetics, said Paul Danao, InformedDNAs new chief growth officer. Its with much enthusiasm that I join such a talented team of professionals to lead the companys sales and marketing initiatives for services that guide healthcare providers clinical decisions, help shape clinical trial processes, and enable insurers to craft evidence-based coverage policies for genetic tests.

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest, full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure that health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

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InformedDNA Recruits New Chief Growth Officer, Welcomes Industry Veteran to Board of Directors - Business Wire

Given the quite reasonable concerns this past week over the blinding of three womenby a stem cell clinic injecting fat stem cells into eyes, I thought it was time to take a look at stem-cell-procedure complications. All medical procedures have complications. So what bar can we use to see if those complications are reasonable, and how should those be reported and measured?

First, to decide what complications might be reasonable, we need to understand the playing field of common side effects of conventional treatments. So what are some common complications in my world of orthopedic care, and how often do they happen?

So conventional procedures and widely used medications can have big time complications and rates!

To date, I think weve reported the most comprehensive paper on stem-cell-related complications. In more than 2,300 patients and 3,000 procedures, the total complication rate was 2.0%. Of those, four were deemed to be more serious and definitely related to the procedure by at least one independent reviewer not related to our group. Since this is out of 3.012, this is a serious-complication rate of 0.13%. Pretty small compared to the rates reported above for common orthopedic procedures.

This week we saw reported that the complication rate for the fat stem cell clinic that blinded three consecutive patients was approximately 0.01%. That seems about ten times less, despite the significant reported complications. Why? The data is an apples to oranges comparison.

For our reported data, a registry infrastructure was used where questionnaires were sent to every patient, and if they failed to respond, telephone calls were made. Based on conversations I have had with participating physicians, the stem cell outfit with the complications uses a passive system where the doctors are told to report the complications. Its likely that pinging patients about whats wrong can find more complications when compared to relying on a busy physician to report his or her complications.

Regrettably, the stem cell outfit that blinded these patients hasnt published any safety data on the widespread use of fat stem cells, so there is no research to review. This is concerning.

As you can see from the above risks, stem-cell-based orthopedic therapies have low-risk profiles when compared to conventional orthopedic procedures. Hence, when complications do occur, they are rare. However, to determine risk, efficacy is also needed as part of the calculus. So lets look at knee replacement.

So how good is knee replacement compared to garden-variety physical therapy (PT)? Not great. In a recent study (video below), 3 in 4 knee-replacement candidates undergoing PT instead of surgery decided not get a knee replacement after one year.Also you need to amputate 56 knees to find just one patient who reports more than a 15% functional improvement as a result of this maximally invasive surgery.

Looking at the relative efficacy of two procedures is hard without a head-to-head comparison trial. However, in the case of knee arthritis, we can comparetwo different studies that both compare to PT. In the above caseof knee replacement, we know how that invasive procedure fared, and below well look at a same-day stem cell procedure.

For the stem cell procedure, well be looking at the Regenexx bone-marrow-based version. Below is a graphic that discusses that out of more than 5,000 knee stem-cell-treated patients, as of this month, only about 12% went on to get a knee replacement despite their treatment at 12 years. This was based on 100% response rate from a random sample of 100 registry patients.

Below are the yet unpublished results of our randomized controlled trial where knee-replacement candidates were treated with our Regenexx knee stem cell procedure versus physical therapy:

The patients with a stem cell procedure report more knee function more quickly compared to the physical therapy group (listed here as Exercise Therapy). The PT group crossed over to the stem cell procedure at three months, which is why the PT data is only tracked for that long.

So comparing risks and benefits of these two therapies, the risk of knee replacement is significantly greater and the outcome based on a randomized controlled trial is likely no better than a stem cell injection. Hence, the risk/benefit of a Regenexx-protocol knee stem cell procedure is good compared to traditional care.

The upshot? While the risks of stem cell therapy are likely lower than most traditional treatments, for some indications, like injecting fat stem cells in the eye, that equation goes in the wrong direction. The goal with todays review was also to open a debate about when stem cell therapy is likely the better option.So lets have a reasonable discussion about stem cell risks and not throw the baby out with the bathwater!

See the article here:
complication rates stem cell procedures - Regenexx

Stem cell therapies have the potential to treat many conditions, but so far theres little proof that they do. Even so, clinics around the world offer stem cell-based treatments for a host of medical problems. New research warns that some of these treatments might not be effective and can, in fact, cause harm sometimes many years down the line.

A report in the journal CMAJ details the case of a 38-year-old man who developed a benign tumor on his spinal cord that his doctors linked to an experimental stem cell treatment he received 12 years earlier. They said his case highlights the hazards of unproven stem cell-based therapies, as well as the length of time it can take for serious problems to arise.

The worst-case scenario is not necessarily that [stem cell therapy] doesnt work, said Dr. Nanette Hache, one of the mans physicians and a professor of radiology at Memorial University of Newfoundland. There can be other complications, such as tumor formation.

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When the man was 20 years old, he injured his spine during a trampoline accident. Even after surgery and rehabilitation, he was left with some paralysis in his arms and severe paralysis in his legs and torso. At age 26, he underwent a stem cell procedure in Portugal that involved transplanting cells from inside his nose onto the spot of his spinal cord injury. The goal was to alleviate his pain and perhaps even help him walk again.

For people who have run out of conventional options, the choice to try something that hasnt been solidly tested could seem low risk and high reward.

You can imagine if you had this type of injury youd want to research it and see if there was anything out there that could potentially help you, Hache said. Even if wasnt mainstream medicine.

Instead of relief, the man experienced additional pain and never gained extra use of his arms or legs. Twelve years later, he was referred to Hache and her colleagues after he noticed decreasing function in his arms and bladder over the previous three or four years.

The team identified a large mass on the upper part of his spine. When they analyzed samples taken from the mass, they matched the cells in the samples to the type of cells that had been transplanted into his spinal cord: cells from the olfactory mucosa the mucous membrane that lines the nasal cavities.

Hache and her colleagues surgically removed part of the mans tumor but could not remove it entirely without risking further injury. While the tumor isnt considered cancerous, the team is using radiation to help slow its regrowth.

Cells from inside the nose may seem like a strange choice for a spinal graft, but the olfactory mucosa is easy to access and contains cells that can differentiate to form various cell types. Scientists are studying their use in stem cell transplants, and there is some evidence to support the idea that this approach could help patients recover from spinal cord injuries.

The procedure has shown some promise in animal models, and the team in Portugal that performed the mans transplant published a pilot study of the procedure in 20 individuals with spinal cord injuries. They reported improvements in about half of them. Other studies had similar findings.

But as Hache and her colleagues point out in the CMAJ report, these studies examined a small number of patients and were neither randomized nor blinded. Given the lack of controls, it is difficult to know whether any improvements were due to the transplant or to the rehabilitation that patients underwent after surgery.

University of Minnesota bioethicist Leigh Turner said this case demonstrates what can happen when techniques and cells that arent fully understood are used to treat disease.

If you put the wrong kinds of cells in the wrong location in the human body, there can be unwanted effects that just arent clear at the time, he said. And they arent necessarily picked up in preclinical research or with animal models.

Some stem cell-based therapies, like bone marrow transplants, are known to be relatively safe and effective. For many other stem cell approaches though, Hache and others believe that more research is needed before they are offered to patients.

The patient she treated joins what may be a growing group of people who experience serious complications from stem cell transplants. A 2018 analysis reported 35 cases of complications or deaths following unproven stem cell-based treatments, including loss of vision, infections, cardiovascular complications, and cancer. While the researchers acknowledged that some of these problems could have been caused by the implant procedure, others are likely the direct result of the yet unproven treatments using stem cells, they wrote.

Cases like this sometimes bring up concerns about stem cell tourism, in which people travel to different countries for operations and treatments that arent available or accessible in their home countries.

While this patient did travel to Portugal, Turner, who has long voiced criticism of clinics that offer unproven treatments, said his case is complicated.

Its not quite as simple as individuals from Canada, United States, and elsewhere going to some kind of dodgy, obscure clinic in the far ends of the world, Turner said, pointing out that the doctor who performed the transplant has published in peer-reviewed journals and appears to have observed few adverse effects in the patients he and his team treated and tracked.

Stem cell-based therapies are available in North America, and the United States actually has the largest number of stem cell clinics in the world. But invasive procedures like this tend to happen more often outside the U.S. and Canada, Hache said.

There are several known cases in which individuals developed similar spinal tumors after undergoing stem cell transplants using olfactory mucosal cells. At least one of them received a stem cell transplant from the same medical team in Portugal as the man Hache is now treating. In its pilot study, the Portuguese team followed patients after their surgery for an average of about 28 months. For Haches patient, that would not have been long enough to detect the mass that eventually grew on his spine.

Its such a slow process for these tumors to grow, Hache said. The latency period can be years and in his case was greater than seven years.

Given the longer time frame needed for such side effects to show, similar cases could arise down the line. There could also be patients who are experiencing long-term effects that havent led to case reports.

Are there other individuals walking around who have these complications and they just didnt make it into the academic literature? Turner said. I think its a possibility. It may be that from a long-term perspective, the safety profile is different. We need to be aware of the possibility of long-term complications.

Stem cell clinics in North America and around the world have been criticized for advertising unproven therapies to patients.

Because people are vulnerable and because theyve got this illness and theyre desperate for a cure of some sort, theyre willing to take risks, Hache said. And they pay a good sum of money to have these treatments done.

The case report notes that olfactory mucosal transplants cost about $50,000, which does not take into account expenses for travel, accommodation, and recovery. Patients may be aware of the costs and some of the risks, said Hache, but cases like this show how many unknowns remain regarding the long-term effects of unproven stem cell therapies.

The patient probably figured, at the end of the day I guess I lost that money and I am not any better, Hache said. Not realizing that there was a worse outcome.

Go here to see the original:
Case highlights the risks of experimental stem cell ...

There are several steps in the transplant process. The steps are much the same, no matter what type of transplant youre going to have.

You will first be evaluated to find out if you are eligible for a transplant. A transplant is very hard on your body. For many people, transplants can mean a cure, but for some people, problems can lead to severe complications or even death. Youll want to weigh the pros and cons before you start.

Transplants can also be hard emotionally. They often require being in the hospital, being isolated, and theres a high risk of side effects. Many of the effects are short-term, but some problems can go on for years. This can mean changes in the way you live your life. For some people its just for a while, but for others, the changes may be lifelong.

Before you have a transplant, you need to discuss the transplant process and all its effects with your doctors. It also helps to talk to others who have already had transplants.

Its also very hard going through weeks and months of not knowing how your transplant will turn out. This takes a lot of time and emotional energy from the patient, caregivers, and loved ones. Its very important to have the support of those close to you. For example, youll need a responsible adult who will be with you to give you medicines, help watch for problems, and stay in touch with your transplant team after you go home. Your transplant team will help you and your caregiver learn what you need to know. The team can also help you and your loved ones work through the ups and downs as you prepare for and go through the transplant.

Many different medical tests will be done, and questions will be asked to try to find out how well you can handle the transplant process. These might include:

You will also talk about your health insurance coverage and related costs that you might have to pay.

You may have a central venous catheter (CVC) put into a large vein in your chest. This is most often done as outpatient surgery, and usually only local anesthesia is needed (the place where the catheter goes in is made numb). Nurses will use the catheter to draw blood and give you medicines.

If youre getting an autologous transplant, a special catheter can be placed that can also be used for apheresis to harvest your stem cells.

The CVC will stay in during your treatment and for some time afterward, usually until your transplanted stem cells have engrafted and your blood counts are on a steady climb to normal.

Younger people, those who are in the early stages of disease, or those who have not already had a lot of treatment, often do better with transplants. Some transplant centers set age limits. For instance, they may not allow regular allogeneic transplants for people over 50 or autologous transplants for people over 65. Some people also may not be eligible for transplant if they have other major health problems, such as serious heart, lung, liver, or kidney disease. A mini-transplant, described under Allogeneic stem cell transplant in Types of Stem Cell Transplants for Cancer Treatment may be an option for some of these people.

The hospitals transplant team will decide if you need to be in the hospital to have your transplant, if it will be done in an outpatient center, or if you will be in the hospital just for parts of it. If you have to be in the hospital, you will probably go in the day before the transplant procedure is scheduled to start. Before conditioning treatment begins (see section below), the transplant team makes sure you and your family understand the process and want to go forward with it.

If you will be having all or part of your transplant as an outpatient, youll need to be very near the transplant center during the early stages. Youll need a family member or loved one as a caregiver who can stay with you all the time. You and the caregiver will also need reliable transportation to and from the clinic. The transplant team will be watching you closely for complications, so expect to be at the clinic every day for a few weeks. You may still need to be in the hospital if your situation changes or if you start having complications.

To reduce the chance of infection during treatment, patients who are in the hospital are put in private rooms that have special air filters. The room may also have a protective barrier to separate it from other rooms and hallways. Some have an air pressure system that makes sure no unclean outside air gets into the room. If youre going to be treated as an outpatient, you will get instructions on avoiding infection.

The transplant experience can be overwhelming. Your transplant team will be there to help you physically and emotionally prepare for the process and discuss your needs. Every effort will be made to answer questions so you and your family fully understand what will be happening to you as you go through transplant.

Its important for you and your family to know what to expect, because once conditioning treatment begins (see the next section), theres no going back there can be serious problems if treatment is stopped at any time during transplant.

Conditioning, also known as bone marrow preparation or myeloablation, is treatment with high-dose chemo and/or radiation therapy. Its the first step in the transplant process and typically takes a week or two. Its done for one or more of these reasons:

The conditioning treatment is different for every transplant. Your treatment will be planned based on the type of cancer you have, the type of transplant, and any chemo or radiation therapy youve had in the past.

If chemo is part of your treatment plan, it will be given in your central venous catheter and/or as pills. If radiation therapy is planned, its given to the entire body (called total body irradiation or TBI). TBI may be given in a single treatment session or in divided doses over a few days.

This phase of the transplant can be very uncomfortable because very high treatment doses are used. Chemo and radiation side effects can make you sick, and it may take you months to fully recover. A very common problem is mouth sores that will need to be treated with strong pain medicines. You may also have nausea, vomiting, be unable to eat, lose your hair, and have lung or breathing problems.

Conditioning can also cause premature menopause in women and often makes both men and women sterile (unable to have children). (See Stem cell transplant and having children in Stem Cell Transplant Side Effects.)

After the conditioning treatment, youll be given a couple of days to rest before getting the stem cells. They will be given through your central venous catheter, much like a blood transfusion. If the stem cells were frozen, you might get some drugs before the stem cells are given. These drugs are used to help reduce your risk of reacting to the preservatives that are used when freezing the cells.

If the stem cells were frozen, they are thawed in warm water then given right away. There may be more than 1 bag of stem cells. For allogeneic or syngeneic transplants, the donor cells may be harvested (removed) in an operating room, and then processed in the lab right away. Once they are ready, the cells are brought in and given to you theyre not frozen. The length of time it takes to get all the stem cells depends on how much fluid the stem cells are in.

You will be awake for this process, and it doesnt hurt. This is a big step and often has great meaning for recipients and their families. Many people consider this their rebirth or chance at a second life. They may celebrate this day as they would their actual birthday.

Side effects from the infusion are rare and usually mild. The preserving agent used when freezing the stem cells (called dimethylsulfoxide or DMSO) causes many of the side effects. For instance, you might have a strong taste of garlic or creamed corn in your mouth. Sucking on candy or sipping flavored drinks during and after the infusion can help with the taste. Your body will also smell like this. The smell may bother those around you, but you might not even notice it. The smell, along with the taste, may last for a few days, but slowly fades away. Often having cut up oranges in the room will offset the odor. Patients who have transplants from cells that were not frozen do not have this problem because the cells are not mixed with the preserving agent.

Other side effects you might have during and right after the stem cell infusion include:

Again, side effects are rare and usually mild. If they do happen, they are treated as needed. The stem cell infusion must always be completed.

The recovery stage begins after the stem cell infusion. During this time, you and your family wait for the cells to engraft, or take, after which they start to multiply and make new blood cells. The time it takes to start seeing a steady return to normal blood counts varies depending on the patient and the transplant type, but its usually about 2 to 6 weeks. Youll be in the hospital or visit the transplant center daily for at least a few weeks.

During the first couple of weeks youll have low numbers of red and white blood cells and platelets. Right after transplant, when your counts are the lowest, you may be given antibiotics to help keep you from getting infections. (This is called prophylactic antibiotics.) You may get a combination of anti-bacterial, anti-fungal, and anti-viral drugs. These are usually given until your white blood cell count reaches a certain level. Still, you can have problems, such as infection from too few white blood cells (neutropenia), or bleeding from too few platelets (thrombocytopenia). Many patients have high fevers and need IV antibiotics to treat serious infections. Transfusions of red blood cells and platelets are often needed until the bone marrow starts working and new blood cells are being made by the infused stem cells.

Except for graft-versus-host disease, which only happens with allogeneic transplants, the side effects from autologous, allogeneic, and syngeneic stem cell transplants are much the same. Problems may include stomach, heart, lung, liver, or kidney problems. (Stem Cell Transplant Side Effects goes into the details.) You might also go through feelings of distress, anxiety, depression, joy, or anger. Adjusting emotionally after the stem cells can be hard because of the length of time you feel ill and isolated from others.

You might feel as if you are on an emotional roller coaster during this time. Support and encouragement from family, friends, and the transplant team are very important to get you through the challenges after transplant.

The discharge process actually begins weeks before your transplant. It starts with the transplant team teaching you and your primary (main) caregiver about:

For the most part, transplant centers dont send patients home until they meet the following criteria (Why Are Stem Cell Transplants Used as Cancer Treatment? has more information about neutrophils, platelets, and hematocrit):

If you do not meet all of these requirements, but still dont need the intensive care of the transplant unit, you might be moved to another oncology unit. When you do go home, you might need to stay near the transplant center for some time, depending on your condition.

The process of stem cell transplant doesnt end when you go home. Youll feel tired, and some people have physical or mental health problems in the rehabilitation period. You might still be taking a lot of medicines. These ongoing needs must now be managed at home, so caregiver and friend/family support is very important.

Transplant patients are still followed closely during rehab. You might need daily or weekly exams along with things like blood tests, and maybe other tests, too. During early rehab, you also might need blood and platelet transfusions, antibiotics, or other treatments. At first youll need to see your transplant team often, maybe even every day, but youll progress to less frequent visits if things are going well. It can take 6 to 12 months, or even longer, for blood counts to get close to normal and your immune system to work well. During this time, your team will still be closely watching you.

Some problems might show up as much as a year or more after the stem cells were infused. They can include:

Other problems can also come up, such as:

Your transplant team is still there to help you. Its important that you talk to them about any problems you are having they can help you get the support you need to manage the changes that you are going through. They can also help you know if problems are serious, or a normal part of recovery. The National Bone Marrow Transplant Link helps patients, caregivers, and families by providing information and support services before, during, and after transplant. They can be reached at 1-800-LINK-BMT (1-800-546-5268) or online at http://www.nbmtlink.org.

Follow this link:
Whats It Like to Get a Stem Cell Transplant? | American ...

Lance was diagnosed with cerebral palsy a year ago. His family hopes non-FDA approved stem cell treatment for the disease can help him walk and talk.

CAMP HILL, Pa. A family in Cumberland County has turned to stem cells to treat their two-year-old son diagnosed with cerebral palsy. The only problem: stem cell treatment for the disease hasn't been approved by the FDA.

The day he was born, when he wheeled him down the hall and he was only a pound, and I started to cry and said, will he live? And he said, of course Hes only small," said Danielle Maxwell, Lance's mom.

The words, "he's only small," are what Lance's mom and father Rob have lived by since the day he was born. The preemie, born three months early, has been through several surgeries and complications along the way. But, Lance has always been a fighter.

Lance fought so hard just to survive the beginning of life, and come home with us," said Danielle. "And he is just so happy and loving and amazing.

About a year ago, Lance was diagnosed with cerebral palsy. Doctors told his family, he will never walk, talk or take care of himself.

We just dont believe that," said Danielle. "We dont.

Lance receives a lot of different therapies but, his parents did not want to just stop there.

We both overwhelmingly feel, he never gave up, he never gave up on us, he never gave up on himself," said Rob. "So, we owe it to him to give him the opportunity. Its really that simple, he deserves the opportunity."

Danielle began researching stem cell therapies, even speaking to doctors in countries overseas where treatment with stem cells is more readily accessible than in the U.S. The FDA has approved stem cell treatments for some conditions but not cerebral palsy. However, trials to determine the effectiveness of stem cell treatment for the disease are underway.

What weve seen is a small but real appearing improvement in motor function," said Doctor Charles Cox with University of Texas Health in Houston, began a trial in 2013 on the safety and effectiveness of banked cord blood or bone marrow stem cells in children with cerebral palsy, and is now just wrapping up the results from the trial.

The overall results of this study depend if youre a glass half full or half empty kind of person," said Dr. Cox. "It is not a compelling miraculous result. Its not, Oh my God, this child was treated and look at this profound benefit.'"

Because stem cell treatment for cerebral palsy is still in trial phases, it's not approved treatment by the FDA. However, the Maxwells did find a doctor in Harrisburg willing to transfer stem cells from a full-term baby's umbilical cord to Lance. But, since it isn't FDA approved, we were not allowed to be there to show Lance receiving the stem cells. The Maxwells are hopeful following this procedure Lance may someday walk and more importantly be able to communicate with them.

He wants to be involved," said Rob. "You can tell hes trying to communicate he just cant get over that hump. We believe stem cells could be that bridge to help him move a little faster.

Danielle says, it will take about six months to see if the stem cells will have any definitive benefits for Lance. But, already says she's seeing progress. She says Lance is not able to stand on his own.

Read this article:
Cumberland County family turns to non-FDA approved stem cell treatment to help two-year-old son with cerebral palsy - FOX43.com

There is new hope for patients with a rare autoimmune disorder. In mild cases, scleroderma causes areas of hardened skin. But in severe cases, it can also cause deadly hardening of internal organs like the lungs.

A transplant typically used to treat cancer is having remarkable results for patients who had little hope of surviving.

A year ago, Chuck Beschta couldn't walk more than a few minutes without stopping to rest.

"Just going out and doing normal activities outside raking the lawn, mowing the grass, shoveling the driveway, whatever, snow blowing those became impossible," he said.

After months of testing, he was diagnosed with severe scleroderma, which was hardening his skin. But even worse, it was hardening his lungs, making it hard to breathe.

"He was getting worse despite the best therapy we had to offer," University of Wisconsin rheumatologist Dr. Kevin McKown said.

McKown recommended a stem cell transplant newly approved for scleroderma to reboot Beschta's immune system.

"There's a process by which they try to remove the autoreactive immune cells, the cells that are caught in the immune process, and then they infuse that back in and hope that the body will basically take up and graft that immune system," McKown said.

Beschta saw almost immediate results. His skin was softer and his breathing improved. He hopes his scleroderma has been cured.

"I think we can be optimistic, and so far the people who have been followed out as far as 10 years out don't seem to be getting it back," McKown said.

Without a transplant, less than half the patients who have diffuse scleroderma and severe lung disease live 10 years past diagnosis.

Stem cell transplants are commonly used to treat leukemia and lymphoma, cancers that affect the blood and lymphatic system.

MEDICAL BREAKTHROUGHSRESEARCH SUMMARYTOPIC: NEW THERAPY FOR SCLERODERMAREPORT: MB #4698

BACKGROUND: Scleroderma is an autoimmune rheumatic disease where an overproduction of collagen produced in the body tissues causes the skin and internal organs to harden. The symptoms and effects range by person, but some common symptoms include hardened patches of skin (locations on the body vary,) painful and numb-feeling fingers and toes, and sharp internal pain in the esophagus, intestines, heart, lungs, or kidneys. Women are four times as likely to have scleroderma and the onset is between 30 and 50 years of age. However, anyone from infants to the elderly can have scleroderma. Possible risk factors include having certain gene variations as other family members, ethnic groups, exposure to certain medications or drugs, and already having another autoimmune disease, like rheumatoid arthritis, lupus or Sjogren's syndrome. (Source: https://www.scleroderma.org/site/SPageNavigator/patients_whatis.html;jsessionid=00000000.app30132b?NONCE_TOKEN=9B76519DF6B5819859319F0B63B805C9#.XheCGVVKhaQ , https://www.mayoclinic.org/diseases-conditions/scleroderma/symptoms-causes/syc-20351952 )

DIAGNOSING: A physical exam will be conducted as well as a blood test to check for elevated levels of antibodies the immune system produced. The doctor will also take a sample of skin to be tested in the lab. If there are complaints about internal pain, the doctor may run other tests, including imaging, organ function, and other blood tests. (Source: https://www.mayoclinic.org/diseases-conditions/scleroderma/diagnosis-treatment/drc-20351957 )

NEW TECHNOLOGY: A new stem cell transplant that's commonly known to treat cancer is improving the quality and quantity of life for those with scleroderma. Rheumatologists at University of Wisconsin Health tested the treatment since they have already been conducting bone marrow transplants for decades. Surgeons take out a sample of the patient's bone marrow, isolate the stem cells, and use radiation and chemotherapy to clean out their immune system. The same stem cells are later injected back into the patient's immune system with the hope that new cells will grow and the system is rid of the bad ones. The process is dangerous when the cells are taken out because the patient's immune system is more vulnerable, making infections more likely to occur. However, after four and a half years, 79% of patients that underwent the treatment were alive without serious complications compared to 50% that were treated with the original drugs. (Source: https://madison.com/wsj/news/local/health-med-fit/man-with-severe-autoimmune-disease-gets-stem-cell-transplant-at/article_7e8e17a5-21da-52f8-b728-fe584dab2b77.html)

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New technique developed to treat hardening of internal organs - WNDU-TV

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According to the latest report published by Credence Research, Inc.Anemia Treatment Drugs Market Growth, Future Prospects, and Competitive Analysis, 2018-2026,the global Anemia Treatment Drugs market was valued at USD 23,155.8 million in 2017 and is expected to grow at CAGR by 16.4 percent in the 2018 to 2026 forecast period.

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According to the American Society of Hematology, anemia is the most common hematological disorder, affecting more than 3 million Americans every year. The global scenario is more serious because the World Health Organization states that around 1.62 billion people worldwide are affected by anemia, which is equal to 22.5 percent of the global population. In addition to the highest prevalence of anemia in pre-school children, men have the lowest prevalence. In addition, the highest number of individuals affected by pre-school anemia are non-pregnant women, which is approximately 31.2% of the total anemic population. Treatment depends specifically on the type of anemia and other complications associated with it. Currently, anemia is specifically targeted at supplements and chronic conditions are directly treated with blood transfusion, stem cell transplantation or bone marrow transplantation.

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The major types of anemia that are treated with drugs include irondeficiency anemia, thalassemia, aplastic anemia, hemolytic anemia, sickle cellanemia, and pernicious anemia. In 2017, iron deficiency anemia and sickle cellanemia together dominated the market, accounting for almost 60% of the marketshare. The key factors responsible for the growth of these two types of anemiaare the highest prevalence of sickle cell anemia and aplastic anemia, and theavailable drug treatment costs more than other types. These two types of anemiaare expected to remain dominant throughout the forecast period due to theexpected market entry of more than 10 molecules during the forecast period from2018 to 2026.

The anemia drug market includes drugs such as vitamins & iron supplements, antibiotics, immunosuppressants, bone marrow stimulants, corticosteroids, gene therapy & iron chelating agents. In 2017, immunosuppressive and corticosteroids accounted for a combined market share of 58 percent due to key market driving factors such as increasing anemia prevalence, increasing anemia-related awareness at the initiative of government and non-government organizations, and continuing advances in the research and development of the anemia treatment industry. The anemia drug line is very strong and several prominent players are present along with their promising molecules. The most efficient molecules in the drug pipeline are FG-4592/roxadustat (FibroGen), Daprodustat / GSK1278863 (GlaxoSmithKline), Molidustat / BAY85-3934 (Bayer), Rivipansel (Pfizer), Luspatercept (Celgene), OMS721 (Omeros Corporation) and LentiGlobin BB305 (bluebird bio). As a result, a strong drug pipeline is expected to drive the overall market for anemia treatment drugs significantly throughout the forecast period.

Market CompetitionAssessment:

The anemia treatment drug market is expected to grow significantly in the near future and there are several companies operating in this market and expected to enter the market. The overall competitive scenario is expected to observe a paradigm shift towards gene therapy & monoclonal antibody therapies.

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Key Market Movements:

List of CompaniesCovered:

Market Segmentation:

By Anemia Type Segment

Iron deficiency anemia

Thalassemia

Aplastic anemia

Hemolytic anemia

Sickle cell anemia

Pernicious anemia

By Drug Type Segment

Supplements

Antibiotics

Immunosuppressant

Bone Marrow Stimulants

Corticosteroids

Gene Therapy

Iron Chelating Agents

By Geography SegmentType

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Anemia Treatment Drugs Market (16.4% CAGR) 2018 to 2026: Global Industry Size, Share, Growth, Trends, and Forecast - Mobile Computing Today

February 28, 2020, 8:46 PM

6 min read

Over four decades after a woman was sexually assaulted and killed, a suspect has finally been identified through the new, but growing, investigative tool of genetic genealogy.

Naomi Sanders was found sexually assaulted and strangled to death on Feb. 27, 1973 inside her apartment in Vallejo, California, about 30 miles outside San Francisco.

Sanders, 57, lived alone and was the onsite manager for the apartment complex, the Vallejo Police Department said.

Naomi Sanders is seen in an undated photo released by the Vallejo Police Department with a release that an investigation into her 1973 murder has used genetic genealogy to lead them to a suspect.

But the years ticked by without progress in her case.

In 2014, forensic testing was completed on the clothes Sanders was wearing when she was killed, and analysts found a semen stain, said police.

A DNA profile was developed from the stain and entered into the law enforcement database Combined DNA Index System (CODIS) -- but there was no match, police said.

Detectives said they continued to run the DNA profile against new people when they were added to CODIS, still without a match.

In 2016, detectives tried familial DNA technology, which allowed them to search the California DNA database and wider DNA databases in other states for people related to the unknown suspect, police said. Again, they didn't get a hit.

Police said the break in the case finally came when authorities started to look into genetic genealogy in 2018.

Through genetic genealogy, an unknown killer's DNA left at a crime scene can be identified through his or her family members, who voluntarily submit their DNA to a genealogy database. This allows police to create a much larger family tree than using law enforcement databases like CODIS.

Genetic genealogy first came to light as an investigative tool in April 2018 when the suspected "Golden State Killer" was arrested through the technique. Since then, over 100 suspects have been identified through the technology, according to Parabon NanoLabs Chief Genetic Genealogist CeCe Moore, who worked on the Sanders case.

After working through the family tree of Sanders' unknown killer in April 2019, analysts were able to zero-in on two persons of interest, authorities said.

Detectives went to Louisiana in 2019 where they collected a discarded item from one of those persons of interest, police said. They tested the DNA from that item, but didn't get a match, so they eliminated the man as a suspect, police said.

That left police with the second person of interest -- who was dead and had been cremated, they said.

Authorities contacted one of his sons and collected his DNA, which determined that Sanders' suspected killer was Robert Dale Edwards, the Vallejo police announced Thursday.

Robert Dale Edwards is pictured in an undated image released by the Vallejo Police Department with a statement that they used DNA to established him as the suspect in the 1973 murder of Naomi Sanders in Vallejo, Calif. Edwards died in 1993.

Edwards was a 22-year-old living in Vallejo at the time of the crime, police said. Detectives learned that Edwards' father was a co-worker of Sanders, police said.

He had a criminal history, including attempted murder, assault and domestic violence, police said.

Edwards died in 1993 of a drug overdose, police said.

Sanders' family released a statement through the police department, saying so many relatives over the last 46 years "have also passed, and, unfortunately, they cannot be afforded the truth as to what happened."

"Those of us who do remember the stories of Naomi's life and untimely death can now feel closure thanks to the determination and teamwork of the Vallejo Police Department and partnering law enforcement agencies," the family said.

"May Naomi now rest in peace," her family said.

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She was sexually assaulted and killed in 1973. Now genetic genealogy identified a suspect. - ABC News

WEST PALM BEACH, FL Migraine prevalence was significantly higher among patients with multiple sclerosis (MS) compared with healthy controls, with several genetic variants being shared between migraine and MS, according to research presented at the Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) 2020 Forum held from February 27 to 29, 2020, in West Palm Beach, Florida. Several variants were found to increase migraine risk but decrease MS risk; these findings may lead to improvements in targeted treatments and therapies.

Although symptoms and risk factors for migraine and MS often overlap, and up to 69% of patients with MS suffer migraine, it is unknown whether these 2 disorders are independent or have a common biological etiology, such as genetics. The current study used data on 1094 patients with MS and 12,176 control participants who were Kaiser Permanente Northern California Health Plan members to investigate if any genetic variants independently associated with migraine or MS could be identified from genome-wide association studies that are shared between both conditions.

Migraine status was determined via self-report and validated electronic health record algorithm. Prior genome-wide association studies of MS or migraine were used to identify variants, and after quality control, investigators analyzed 902 variants with minor allele frequency greater than 1%. Observed and permuted P for each phenotype were obtained from logistic regression and compared with identify variants associated with both phenotypes. Logistic regression models were adjusted for sex and ancestry among any variants that had significant associations with both phenotypes.

The migraine model was adjusted for a propensity score representing the probability of MS case-control status to account for potential ascertainment bias from obtaining a secondary phenotype from a case-control study.

Among the 1094 patients with MS, the mean age was 49.95 years old (SD=9.02) compared with 49.01 years old (SD=8.92) for controls. Women made up 79.98% of MS cases and 80.60% of controls. Median MS Severity Score was 3.21 (SD=2.43). Migraine incidence was significantly higher (P <.05) among MS cases (40%) compared with controls (29%). Preliminary results found 5 genetic variants (rs6677309, rs10801908, rs1335532, rs62420820, and rs17066096) that were significantly associated (P <.05) with both MS and migraine. Three of these were protective for MS (rs6677309, rs10801908, and rs1335532), and all variants increased odds of migraine.

Study investigators concluded, Results showed the prevalence of migraine was significantly higher among individuals with MS compared [with] healthy controls.Several genetic variants were shared between MS and migraine, and implicated genes include CD58, which modulates regulatory T-cells, and several immune genes (IL20RA, IL22RA2, IFNGR1 and TNFAIP3) within the 6q23 chromosomal region. Because several variants increase risk of migraine but decrease risk of MS, there may be implications for targeted therapies and treatments.

Visit Neurology Advisors conference section for continuous coverage from the ACTRIMS 2020 Forum.

Reference

Horton M, Robinson S, Shao X, et al. Discovery of shared genetic variants associated with multiple sclerosis and migraine. Presented at: 5th Annual Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) Forum; February 27-29, 2020; West Palm Beach, FL. Abstract P140.

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Shared Genetic Variants Associated With Migraine and Multiple Sclerosis - Neurology Advisor

SELBYVILLE, Del., Feb. 27, 2020 /PRNewswire/ -- Global Market Insights, Inc. has recently added a new report on genetic testing market which estimates the global market valuationfor genetic testing will cross US$ 28.5 billion by 2026. A growing demand for DTC genetic testing will drivemarket expansion over the forecast period. Genetic testing can project the risk of diseases, identify carriers and establish diagnoses. DTC genetic testing can help individuals identify ancestral origins and predisposition to certain illnesses. This can enable individuals to prepare or prevent the onset of certain diseases. Increasing awareness among people regarding their health will drive industry growth.

Growing adoption of genetic testing in oncology and genetic diseases in North America will propel the market expansion. Genetic testing to determine the probability of cancer and rare diseases helps in planning the treatment. Genetic testing helps in the formulation of the most effective treatment for cancer and other diseases. Hence, the growing application of genetic testing in cancer and genomic disorders will fuel the genetic testing market growth.

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Nutrigenomic testing was valued at USD 408.9 million in 2019 and will witness significant growth over the forecast period. Nutrigenomic testing determines how genetic variations change the individual reaction to nutrients. Nutrigenomic can assist with optimum nutritional planning. Rising incidence of obesity due to increased consumption of junk food and sedentary lifestyle will fuel the segment growth over the forecast period. Furthermore, growing awareness regarding customized diets will fuel market growth.

The cancer testing market held nearly 52% market share in 2019 and will exhibit robust growth in the forecast period. The growth can be attributed to the advancements in genetic testing that can confirm the diagnosis. Furthermore, genetic testing can help with the formulation of the most effective drugs for the treatment of cancer, improving patient outcomes. These factors will boost the growth of the cancer testing segment.

The European genetic testing market held a substantial value in 2019 and is poised to exhibit nearly 13% CAGR over the forecast period. The growing geriatric population will boostdemand for genetic testing in the region. Furthermore, presence of key market players in the region will positively impact the technology adoption. Additionally, favorable government initiatives to harmonize genetic testing and ensure accurate and reliable results will boost market growth.

Browse key industry insights spread across 146 pages with 138 market data tables & 8 figures & charts from the report, "Genetic Testing Market Share & Forecast, 2020 2026" in detail along with the table of contents:

https://www.gminsights.com/industry-analysis/genetic-testing-market

Some major findings of the genetic testing market report include:

Few notable players in the genetic testing market share are 23andME, Abbott Molecular, Bayer Diagnostics, Cepheid, Counsyl, PacBio, Illumina Inc., Qiagen, Roche Diagnostics, BioCartis, and Siemens. The market players are adopting strategies such as innovative product launches and acquisitions to expand their customer base and market share.

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Partial chapters of report table of contents (TOC):

Chapter 2. Executive Summary

2.1. Genetic testing industry 360synopsis, 2015 - 2026

2.1.1. Business trends

2.1.2. Test-type trends

2.1.3. Application trends

2.1.4. Regional trends

Chapter 3. Genetic Testing Industry Insights

3.1. Industry segmentation

3.2. Industry landscape, 2015 - 2026

3.3. Industry impact forces

3.3.1. Growth drivers

3.3.1.1. Physician adoption of genetic tests into clinical care

3.3.1.2. Technological advancements and availability of new tests

3.3.1.3. Growing application of genetic testing in oncology and genetic diseases in North America

3.3.1.4. Consumer interest in personalized medicines in Europe

3.3.1.5. Growing demand for direct-to-consumer genetic testing

3.3.2. Industry pitfalls & challenges

3.3.2.1. High costs of genetic testing

3.3.2.2. Dearth of experienced professionals and advanced infrastructure in developing and underdeveloped economies

3.4. Growth potential analysis

3.4.1. By test type

3.4.2. By application

3.5. Regulatory landscape

3.5.1. U.S.

3.5.2. Europe

3.6. Market share analysis, 2018

3.6.1. Market share analysis, by North America, 2018

3.6.2. Market share analysis, by Europe, 2018

3.6.3. Market share analysis, by Asia Pacific, 2018

3.6.4. Market share analysis, by Latin America, 2018

3.6.5. Market share analysis, by Middle East & Africa, 2018

3.7. Porter's analysis

3.8. Competitive landscape, 2018

3.8.1. Strategy dashboard

3.9. PESTEL analysis

About Global Market Insights

Global Market Insights, Inc., headquartered inDelaware, U.S., is a global market research and consulting service provider, offering syndicated and custom research reports along with growth consulting services. Our business intelligence and industry research reports offer clients with penetrative insights and actionable market data specially designed and presented to aid strategic decision making. These exhaustive reports are designed via a proprietary research methodology and are available for key industries such as chemicals, advanced materials, technology, renewable energy and biotechnology.

GMIPulse,our business analytics platformoffers an online, interactive option of exploring our proprietary industry research data in an easy-to-use and dynamic manner. Clients get to explore market intelligence across 11 top-level categories and hundreds of industry segments within them, covering regional, company level and cross-sectional statistics that make our offering a stand-out for decision-makers.

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Arun HegdeCorporate Sales, USAGlobal Market Insights, Inc.Phone:1-302-846-7766Toll Free:1-888-689-0688Email:sales@gminsights.com

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genetic-testing-market-size-will.jpg Genetic Testing Market size will exceed $28.5 Bn by 2026 Genetic Testing Market size slated to surpass USD 28.5 billion by 2026, according to a new research report by Global Market Insights, Inc.

Related Links

Direct-to-Consumer Genetic Testing Market

Prenatal and New-born Genetic Testing Market

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Genetic Testing Market demand to hit USD 28.5 Bn by 2026: Global Market Insights, Inc. - PRNewswire

Newswise Recent advances in computing enable researchers to explore the life sciences in ways that would have been impossible a few decades ago. One new tool is the ability to sequence genomes, revealing peoples full DNA blueprints. The collection of more and more genetic data allows researchers to compare the DNA of many people and observe variations, including those shared by people with a common ancestry.

Sohini Ramachandran, Ph.D., is director of the Center for Computational Molecular Biology and associate professor of biology and computer science at Brown University in Providence, Rhode Island. She is also a recent recipient of the Presidential Early Career Award for Scientists and Engineers (PECASE). Dr. Ramachandran researches the causes and consequences of human genetic variations using computer models. Starting with genomic data from living people, her lab applies statistical methods, mathematical modeling, and computer simulations to discover how human populations moved and changed genetically over time.

Sohini Ramachandran, Brown University. Credit: Danish Saroee/Swedish Collegium for Advanced Study.

Dr. Ramachandran and her team focus on further uncovering how the genetic architecture, or composition of traits, varies among people with different ancestries. Variations in the genetic composition of disease-causing genes can make individuals respond differently to the same therapy, and understanding these variations could help doctors recommend the best treatment for each patient.

Many of the large genome-wide association studies that have looked for the basis of traits or diseases have been in populations of European ancestry, with the assumption that their genetic architecture is the same across populations. However, this isnt necessarily the case. Most diseases are caused by the interaction of many genetic variants. As a result, people who have different ancestries and the same disease may share some disease-causing variants but have population-specific variants that also play a role in the disease.

Dr. Ramachandran is excited to bring her knowledge of human evolutionary histories into studying genetic variation to better understand and potentially treat diseases and to identify adaptive mutations. She says evolutionary histories can help researchers make sense of data from the genome-wide association studies used to investigate diseases, understand why results from these studies are often difficult to replicate, and determine if results apply only to certain populations. The genome-wide association studies have a lot of downstream effects because some of the results from these studies are affecting decisions that are being made in clinics, and its not clear if those results are relevant to everyone, she says.

For Dr. Ramachandran, receiving a PECASE highlights the importance of statistical and computational work in human genetics and disease and reinforces the value of including evolutionary biology in modern medical practices.

Dr. Ramachandrans research is supported in by part NIGMS grants R01GM118652 and P20GM109035.

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PECASE Honoree Sohini Ramachandran Studies the Genetic Foundations of Traits in Diverse Populations - Newswise

IRDiRChad two goals to achieve by 2020: to contribute to the development of 200 new therapies - which you have exceeded and to facilitate the diagnosis of most rare diseases. How are you faring?

'We surpassed the goal for new therapies in 2016. There has been a great deal of progress in diagnosis too. In 2010 there was a genetic test available for 2,200 rare diseases, and by 2019 that figure was over 4,000. There is still some way to go.

'There are several thousand (rare diseases; more than 6,000 have been found so far), which seems really daunting. But we are in a new era of systems biology (which tries to understand the body as a whole) and international cooperation that is delivering great progress towards diagnosing and treating more and more of these diseases.'

Do most rare diseases have a genetic cause?

'Genetics is estimated to account for between 70% and 80% of all rare diseases. Those that are left dont yet have a name and have not yet been associated with a genetic variation (which would allow a diagnostic test), but often there is some family history that suggests they are genetic.

'There are also some rare infectious diseases, rare autoimmune diseases and rare cancers that are not genetic in origin. And these are trickier to diagnose.'

What exactly are we talking about when we say a disease is rare?

'There is a legal definition for rare diseases, but it is different depending on where you are in the world. A disease is considered rare in Europe if it affects fewer than one in 2,000 people. In the US, however, a rare disease is one that affects fewer than 200,000 people over the whole population. This means there is a subset of diseases close to the threshold that are considered rare in one country but not in another. But most rare diseases are a lot rarer than that. Some of the rarest affect just 10 in a million people. They are the rare among the rare.'

What difference can a diagnosis make to patients?

'Giving a name to a disease is a major step forward for patients and families, even if it doesnt bring an immediate benefit to their quality of life. From my personal experience here in Italy, we see families spend years on what is called the diagnostic odyssey, wandering from one hospital and test to another. Having a diagnosis allows them to close this page of their lives where they are in total darkness. And while there might not be a therapy available, the diagnosis can relate the disease to a group of other diseases where a standard of care is already available, such as using diet, physiotherapy and palliative care.

'It also has a social impact as it allows families to connect to others with similar problems, and they can share experiences with each other. One parent might find their child sleeps better if they do something with them before bed, or give them particular exercises. So, it brings improvements in everyday life. It also brings some hope of an end solution of a treatment or a cure, although many parents are realistic about how long this may take.'

How exactly are you helping more rare diseases to be diagnosed?

'There are two developments that have really accelerated the identification of genetic defects associated with rare diseases.

'The first is next generation sequencing, which allows large-scale genetic analysis to be done far more rapidly than it was before. The other is tools that allow the comparison of results from patients that live very far away. One of these, known as the Matchmaker Exchange, means that a clinical centre in Italy, for example, might associate a clinical manifestation with a genetic alteration through sequencing. But to prove it is the cause of the disease, they need to match the same genetic alteration to the same clinical manifestation in other patients. But those patients could be in Mexico or Japan. The Matchmaker Exchange allows data from patients in different parts of the world to be combined and so is accelerating the ability to confirm whether a certain disease is associated with a certain genetic defect.'

What challenges are there?

'At the moment, most of the analysis is done in parts of the genome that code for proteins, known as the exome, but that is only a small part of the DNA (about 1.5%). To find the genetic cause of all diseases (that have one) we need to look outside the exome, which is becoming possible now with whole genome sequencing.'

Some of the rarest (diseases) affect just 10 in a million people. They are the rare among the rare.

Dr Lucia Monaco, Chair, International Rare Diseases Research Consortium.

What about diseases that dont have a genetic cause?

'Some (rare diseases that are not genetic in origin) can be caused by errors as DNA is transcribed into RNA before producing proteins, or alterations in the proteins themselves. Diseases can also be caused by the metabolites produced in the cells by the action of enzymes, for example.

'Advances in the omics (the sciences that study all the cell metabolites, proteins or encoding instructions in the body) is making inroads here, particularly thanks to the computing systems able to handle the data involved, but nowhere near as much as we have with genomics (the first omics field to be developed).'

2020 was the target date for your last set of goals, so whats next?

'In 2017, the IRDiRC set a new goal of getting 1,000 new therapies approved for rare diseases by 2027. It has built three scientific committees that are working on therapies, diagnosis and interdisciplinary fields such as data sharing and sharing biological samples. Their job is to identify the strategic questions that need to be addressed, identify tools or make recommendations to health bodies, funders and policymakers.

'One of the other areas of focus I find particularly interesting is the problems faced by indigenous populations. Diagnosing a disease that requires the symptoms to be described in a way that another doctor using another language will be able to recognise. This is relatively simple if we all work in English in the developed world. But it is far harder in the developing world, particularly among populations that have indigenous languages. These are the most neglected of the neglected as their symptoms are not even addressed in their language.'

The research in this article was funded by the EU. If you liked this article, please consider sharing it on social media.

Rare diseases are individually rare but when you count them together around 30 million people in the EU suffer from one. There are several challenges in diagnosing and treating these conditions, including the fact that medical experts in a particular disease may not be local to the patient, the challenge of finding enough people to run trials for drugs, and the fact that pharmaceutical companies have little incentive to spend time and money developing products that will only help a small amount of people.

To support research and innovation into rare diseases, the EU has provided 1.4 billion to more than 200 projects over the last 13 years. Initiatives include E-Rare, now in its third iteration, a network of 23funding agencies from17 countries to fund transnational research.

In 2019, the EU launched the European Joint Programme in Rare Diseases an alliance between 130 institutions from 35 countries to improve the quality and take-up of rare disease research and develop an efficient way of funding the research. They also established a group of virtual networks for rare disease patients to allow them to benefit from medical expertise from all over the EU. The consortium works with several so-called European Reference Networks, virtual groups of healthcare professionals providing highly specialised care in areas such as epilepsies, rare neurodegenerative diseases and paediatric cancer.

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Q&A: 'We can diagnose more than 4000 rare diseases but there's still a long way to go' - Horizon magazine

Several years ago, Richard Neher, an evolutionary biologist at the University of Basel in Switzerland, and his colleagues wanted to monitor changes to the flus genetic makeup to see if the data would help scientists build more-effective flu vaccines. They developed an online interface and published the results in a publicly available interactive web browser.

Now, theyve adapted it to keep track of the genetic tweaks to SARS-CoV-2 as the virus moves from major hotspots in China to smaller pockets in other countries.

The Scientist: How do viral genomes sequences from swabs taken from infected patients help you build a family tree of the virus?

Richard Neher: These coronavirsuses tend to change their genome, they mutate, at a fairly high rate. As time goes on, the lineages pick up independent mutations, and then they cause outbreaks in different parts of the world.

TS: What can the data tell you about the viruss origins?

RN: The first takeaway is that all these sequences are very, very similar, about eight mutations different than the root. Thats eight mutations in a 30,000-base sequence. What this tells us is that the virus came from one source, not too long ago, somewhere between mid-November and early December.

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Tracking the global spread of the coronavirus through its genetic signature - Genetic Literacy Project