Category Archives: Transhuman News

Article Highlight | 5-May-2022

With gene therapy, a cure for growth-hormone resistant dwarfism may be on the horizon.

National University of Singapore, Yong Loo Lin School of Medicine

Researchers from the NUS Yong Loo Lin School of Medicine (NUS Medicine) have shown that gene therapy using a single-dose injection of a virus carrying the good gene can potentially be used to cure growth-hormone resistant dwarfism, also known as Laron Syndrome.

People with Laron syndrome are very short as their bodies are unable to use the growth hormone, a substance that helps the body to grow. The team led by Prof Lee K O, from Department of Medicine at NUS Medicine, attempted to increase a hormone called insulin-like-growth factor 1 (IGF1) in a laboratory model by replacing the defective growth hormone receptor gene, using a virus containing instructions specifically targeted at the liver. The liver is the main organ producing the IGF1 hormone. Previously, the only treatment available was injection of genetically-engineered recombinant insulin-like-growth factor 1 (rhIGF1), administered daily or even twice daily. Yet, the results from this original treatment have not been ideal.

The team previously generated a specific gene delivery tool, called the AAV8 carrier that expressed the human insulin gene in the liver. When this showed potential to be used by diabetic patients as a long-term basal insulin gene therapy, the team of researchers which included Dr Sia Kian Chuan and Dr Gan Shu Uin, from the Department of Surgery, attempted to further explore the potential of the AAV8 gene delivery tool to understand the extent of its efficacy. The results showed the significant size and weight which increased steadily throughout the course of 26 weeks, in comparison to the untreated laboratory model.

Other researchers have shown that there is persistent gene expression for up to 10 years to produce proteins in the liver necessary for growth, following a single dose of AAV administration. This makes AAV gene therapy an attractive treatment with potentially significantly good therapy outcomes.

Using an AAV8 gene delivery tool, gene therapy has emerged as a safe and efficient treatment with the potential to treat a variety of inherited or rare mutation disorders such as hemophilia and spinal muscular atrophy. There were no treatments available for these disorders previously. With these optimistic results, the AAV vector can be potentially used to treat people with Laron syndrome.

Prof Lee said, Gene therapy, has given us a promising start in managing dwarfism. This is far more favourable compared to rhIGF1 injections, once or twice daily for many years, which causes side effects of pain and discomfort to patients and comes as a huge financial burden to those involved.

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Promising results shown in the treatment of growth-hormone resistant dwarfism - EurekAlert

One of the most important systems in our bodies is the immune system. It defends our bodies from germs, infections, bacteria, viruses, and more. But, would you have imagined that about 1 in 58,000 babies are born with little to no Immune system? This is a very rare genetic disorder called Severe Combined Immunodeficiency (SCID). A baby can be diagnosed with SCID before birth through screenings, but most babies are diagnosed with SCID within the first six months of life.

When a child has SCID, it means they lack T cells, Natural Killer Cells, and Functional B cells. T Cells help protect the body from infection and help fight cancer. Natural Killer cells destroy cells infected with a virus. Functional B cells produce antibodies to fight bacteria and viruses.

The process of treating or curing a disease by altering a persons genes is known as gene therapy. In two previous studies conducted, SCID gene therapy consisted of two generations, both using viruses to deliver the genes.The first generation of treatment worked, but patients unfortunately developed leukemia, a cancer of the white blood cells that makes them abnormally large. The research community did deliver a second generation of gene therapies that were safer, but they did not completely restore the immune system.

To treat infants with SCID, stem cells are taken from the bone marrow of siblings, parents, or unrelated donors. Then, a bone marrow transplant introduces these healthy infection-fighting cells into the SCID infants body. The idea is that this will provide a new immune system for the patient. Generally, bone marrow stem cell transplants from family donors are effective but unavailable for more than 80% of patients in the world. This means a higher risk of the non-family donors T cells attacking and damaging the patients healthy cells.

In this study, the researchers used a type of gene therapy involving a lentiviral vector. A lentiviral vector is a type of virus called a lentivirus that inserts its RNA into the hosts cells. They took advantage of this viruss action to insert a corrected gene sequence, as an RNA strand, into the patients own bone marrow stem cells to both fix the genetic error and reduce the chance of rejection. The gene of interest is IL2RG, which instructs the body to make certain immune proteins in the bone marrow. When this gene is broken, SCID results.

The research team had successfully tried this type of treatment before in children and young adults with SCID. They combined the lentiviral vector gene therapy with a chemotherapy agent called nonmyeloablative busulfan, typically given to patients before a stem cell transplant. This drug destroys a patients bone marrow cells in preparation for new stem cells. The researchers hypothesized that lentiviral gene therapy, after a low dose of this drug busulfan, would be a safe and effective treatment for infants with recently diagnosed SCID.

First, the infants bone marrow was collected. The correct gene was inserted into the patients blood stem cells using the lentivirus vector or carrier. The cells were then frozen and went through quality testing in order to detect, reduce, and correct any problems that may have occurred. Importantly, the lentiviral vector contained protectors that prevented the gene therapy from accidentally causing leukemia. The protectors work by blocking the virus from turning on certain oncogenes (or cancer-linked genes) that happen to sit next to the IL2RG gene on the chromosome.

They recruited a group of eight infants newly diagnosed with SCID. The researchers conducted their experiment by giving the infants one to two daily doses of busulfan by injection. They customized the initial dose based on the weight and age of the patient and previous knowledge on how this drug typically moves through the body.

The results of the experiment supported the research teams prediction. Natural Killer cells were restored within the first four months in seven of the eights infants as the T cells. The eighth infant initially developed a low T cell count but improved after a boost of gene-corrected cells without needing additional busulfan pre-treatment. Several types of blood cells such as T, B and natural killer cells made in the bone marrow seemed active within 3-4 months after infusion with the viral lentiviral vector.

The combination of lentiviral gene therapy with busulfan conditioning appeared safe in all eight infants. These results aligned with what the researchers expected. Patients were followed for a range of 6-24 months after the study to assess whether their new immune system remained stable. After the 24 month period, they concluded that this treatment was more effective than current treatments for SCID patients with fewer side effects.

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New treatment for infants with weakened immune systems - Sciworthy

Bioinformatics Marketis valued atUSD 10.82 Billion in 2021and is expected to reachUSD 24.07 Billion by 2028with aCAGR of 12.1%over the forecast period.

The increasing scope in research and development, drug discovery, new advancements in genetics analysis and synthesis methods and techniques are driving the Bioinformatics market.

The healthcare sector has seen a development in the last couple of years with the coronavirus pandemic hurting the world in the hardest ways possible and changing the way people live forever. Healthcare has been the topic of discussions at the macro and micro levels and manufacturers have realized that it is time for them to invest in technology and come up with innovative ways to help people. They get funded extensively with the government initiatives too as the authorities all over the world create commissions to help the healthcare sector. The research initiatives take time and multiple rounds of investment but in the interest of the people at large they make sure that those requirements are met. Bioinformatics market in healthcare depends a lot on how innovative the advancements are and how they are used in the long run as the lock in period is always going to be long.

A trend which is aiding Bioinformatics market in healthcare is the habits of people which are increasingly becoming unhealthier. People, particularly in the developing countries live a life where they work really hard and they do not have the time to focus on their health. That is why there is a rise in number of obesity and other diseases in the world. With technological advancements, many illnesses can be diagnosed before they become serious ailments. Diabetes is a common illness which can now be tapped by checking the blood sugar levels at home through advancements of technology. The technological advancements in Bioinformatics market in healthcare can also help people get healthcare services remotely. It is difficult particularly in the developing nations to manage time for their healthcare requirements. This has increased the prevalence of illnesses that made the world look at innovative ways to come up with solutions. In the pandemic, we saw that testing kits played a key role in preventing the spread of the pandemic.

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Some major key players for global Bioinformatics market are,

Bioinformatics market in healthcare has now seen its future vision and how the world will operate once the pandemic is over. Technology is going to play a key role in how the world moves forward. The challenges are going to increase only with the eating habits increasingly becoming worse. Healthcare sector has also been focusing on the mental health aspect. There are innovative ways where counseling can be given online with the use of technology. Governments are also focusing on finding means of e-healthcare in order to benefit people remotely. E-healthcare has also been aided by the accessibility of social media to the deepest part of countries.

The growth of literacy and awareness is also helping people get their consultancy online. The COVID pandemic showed the world ways in which adoption of technology can be the key to how countries deal with healthcare emergencies. Another factor which is aiding growth is how the insurance is extending its wings to the online consultancy too. This will continuously aid the initiatives of online consultancy and help the healthcare sector see growth in the coming years. Bioinformatics market in healthcare surely has a future which will depend on technological advancements

Bioinformatics Market: Key Features

The report throws light on the competitive landscape, segmentation, geographical expansion, and revenue, production, and consumption growth of the Bioinformatics market. Bioinformatics Market Size, Growth Analysis, Industry Trend, and Forecast, offers details of the factors influencing the global business scope. This report provides future products, joint ventures, marketing strategy, developments, mergers and acquisitions, marketing, promotions, revenue, import, export, CAGR values, the industry as a whole, and the particular competitors faced are also studied in the large-scale market.

Bioinformatics Market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, production sites and facilities, company strengths and weaknesses, product launch, product trials pipelines, product approvals, patents, product width and breath, application dominance, technology lifeline curve. The data points provided are only related to the companys focus related to Bioinformatics market. Leading global Bioinformatics market players and manufacturers are studied to give a brief idea about competitions.

Latest news and industry developments in terms of market expansions, acquisitions, growth strategies, joint ventures and collaborations, product launches, market expansions etc. are included in the report. The report focuses on the operation and their competitive landscape present within the market. Identification of numerous key players of the market will help the reader perceive the ways and collaborations that players will need to understand the competition within the global Bioinformatics market.

Bioinformatics Market report provides depth analysis of the market recent developments and comprehensive competitive landscape created by the COVID19/CORONA Virus pandemic. Bioinformatics Market report is helpful for strategists, marketers and senior management, And Key Players in Bioinformatics Industry.

Market Dynamics Of Bioinformatics Market

Global Bioinformatics market report has the best research offerings and the required critical information for looking new product trends or competitive analysis of an existing or emerging market. Companies can sharpen their competitive edge again and again with this business report. The report comprises of expert insights on global industries, products, company profiles, and market trends. Users can gain unlimited, company-wide access to a comprehensive catalog of industry-specific market research from this industry analysis report. The market report examines industries at a much higher level than an industry study.

Table of Content: Global Bioinformatics Market Research Report

Chapter 1: Global Bioinformatics Industry Overview

Chapter 2: Global Economic Impact on Bioinformatics Market

Chapter 3: Global Market Size Competition by Industry Producers

Chapter 4: Global Productions, Revenue (Value), according to Regions

Chapter 5: Global Supplies (Production), Consumption, Export, Import, geographically

Chapter 6: Global Productions, Revenue (Value), Price Trend, Product Type

Chapter 7: Global Market Analysis, on the basis of Application

Chapter 8: Bioinformatics Market Industry Value Chain

Chapter 9: Bioinformatics Market Chain, Sourcing Strategy, and Downstream Buyers

Chapter 10: Strategies and key policies by Distributors/Suppliers/Traders

Chapter 11: Key Economic Indicators, by Market Vendors

Chapter 12: Market Effect Factors Analysis

Chapter 13: Global Bioinformatics Market Forecast Period

Chapter 14: Future Of The Market

Chapter 15: Appendix

Substantial research & development activities carry out by some players that comprises offering training to covering recent information on new technology, materials and techniques to innovative practice solutions, will complement the market growth is also explained. Frequent technological advances, superior portability, and ease of handling for Bioinformatics are boosting adoption in home and alternate care settings as well. Furthermore, non-profit and government initiatives, and awareness programs, and an influx of funding for research studies have positively influenced developments within the industry.

Global Bioinformatics Market: Regional Analysis

The research report includes specific segments by region (country), by company, by Type and by Application. This study provides information about the sales and revenue during the historic and forecasted period of 2022 to 2028. Understanding the segments helps in identifying the importance of different factors that aid the market growth.

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Bioinformatics Market Size, Share, And Trends Analysis Report, By Application (Drug Development, Protein Function Analysis, Gene Therapy, Molecular...

Retinal regions of preserved photoreceptors identified as targets for subretinal delivery of AAV8-based gene therapy to address mutations in genes that cause forms of Leber congenital amaurosis

Subretinal injection well tolerated in preclinical dose-ranging studies

Data presented at Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting 2022

RESEARCH TRIANGLE PARK, N.C., May 04, 2022 (GLOBE NEWSWIRE) -- Opus Genetics, a patient-focused gene therapy company developing treatments for inherited retinal diseases, today announced promising new preclinical data from studies evaluating the potential of its gene therapies OPGx-001 and OPGx-002 to address forms of Leber congenital amaurosis (LCA), a group of rare inherited retinal diseases characterized by photoreceptor degeneration, due to mutations ofLCA5orRDH12genes, respectively.

In preparation for IND-enabling trials of OPGx-001 and OPGx-002, studies were conducted to determine eligibility, therapeutic window, and possible outcome measures for gene therapy for LCA5 and RDH12 inherited retinal diseases. In addition, safety evaluations for the subretinal delivery of an AAV8 vector containing LCA5 or RDH12 were performed in non-human primates (NHP).

The data demonstrated that despite severe retinal dysfunction, LCA patients exhibited detectable photoreceptor regions that may be targets for gene augmentation, identified in the central and midperipheral retina of LCA5-LCA patients and in the pericentral and peripapillary retina of RDH12-LCA patients. In two dose-ranging studies in NHPs, subretinal delivery of OPGx-001 and OPGx-002 was well tolerated, with mild inflammatory changes observed at the higher dose. The data support the therapeutic potential and tolerability of gene augmentation to address LCA5-LCA and RDH12-LCA and provide guidance for formal preclinical toxicology studies and future human clinical trials.

Patients with Leber congenital amaurosis due to mutations of the LCA5 or RDH12 genes experience rapid retinal degeneration, resulting in vision loss in early childhood, said Ash Jayagopal, Ph.D., Chief Scientific Officer of Opus. The detection of preserved photoreceptors in LCA patients signals a therapeutic opportunity to target the mutation and potentially restore structure and function through gene augmentation. In addition, the encouraging dose-ranging results in the primate model suggest subretinal delivery of Opus AAV8-based gene therapies are safe and inform the doses to be used in our toxicology studies, a key step on our path toward the clinic for OPGx-001 and OPGx-002.

The data were presented today at the Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting 2022 in Denver, Colo., by Jean Bennett, M.D., Ph.D., Scientific Co-founder, Opus Genetics, and University of Pennsylvania Perelman School of Medicine; and Tomas Aleman, M.D., University of Pennsylvania Perelman School of Medicine.

Also at ARVO 2022, Dr. Jayagopal was awarded the title of ARVO Fellow, an honor established to recognize current ARVO members for their individual accomplishments, leadership and contributions to the ARVO Association.

About Opus GeneticsOpus Genetics is a groundbreaking gene therapy company for inherited retinal diseases with a unique model and purpose. Backed by Foundation Fighting Blindnesss venture arm, the RD Fund, Opus combines unparalleled insight and commitment to patient need with wholly owned programs in numerous retinal diseases. Its AAV-based gene therapy portfolio tackles some of the most neglected forms of inherited blindness while creating novel manufacturing scale and efficiencies. Based in Research Triangle Park, N.C., the company leverages knowledge of the best science and the expertise of pioneers in ocular gene therapy to transparently drive transformative treatments to patients. For more information, visit http://www.opusgenetics.com.

Media Contact: Heather Anderson6 Degrees919-827-5539handerson@6degreespr.com

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Opus Genetics Announces Promising New Data Highlighting Potential of AAV-based Gene Therapies for the Treatment of Rare Inherited Retinal Diseases -...

Deep in the human brain, a very specific kind of cell dies during Parkinsons disease.

For the first time, researchers have sorted large numbers of human brain cells in the substantia nigra into 10 distinct types. Just one is especially vulnerable in Parkinsons disease, the team reports May 5 in Nature Neuroscience. The result could lead to a clearer view of how Parkinsons takes hold, and perhaps even ways to stop it.

The new research goes right to the core of the matter, says neuroscientist Raj Awatramani of Northwestern University Feinberg School of Medicine in Chicago. Pinpointing the brain cells that seem to be especially susceptible to the devastating disease is the strength of this paper, says Awatramani, who was not involved in the study.

Parkinsons disease steals peoples ability to move smoothly, leaving balance problems, tremors and rigidity. In the United States, nearly 1 million people are estimated to have Parkinsons. Scientists have known for decades that these symptoms come with the death of nerve cells in the substantia nigra. Neurons there churn out dopamine, a chemical signal involved in movement, among other jobs (SN: 9/7/17).

But those dopamine-making neurons are not all equally vulnerable in Parkinsons, it turns out.

This seemed like an opportunity to really clarify which kinds of cells are actually dying in Parkinsons disease, says Evan Macosko, a psychiatrist and neuroscientist at Massachusetts General Hospital in Boston and the Broad Institute of MIT and Harvard.

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The tricky part was that dopamine-making neurons in the substantia nigra are rare. In samples of postmortem brains, we couldnt survey enough of [the cells] to really get an answer, Macosko says. But Abdulraouf Abdulraouf, a researcher in Macoskos laboratory, led experiments that sorted these cells, figuring out a way to selectively pull the cells nuclei out from the rest of the cells present in the substantia nigra. That enrichment ultimately led to an abundance of nuclei to analyze.

By studying over 15,000 nuclei from the brains of eight formerly healthy people, the researchers further sorted dopamine-making cells in the substantia nigra into 10 distinct groups. Each of these cell groups was defined by a specific brain location and certain combinations of genes that were active.

When the researchers looked at substantia nigra neurons in the brains of people who died with either Parkinsons disease or the related Lewy body dementia, the team noticed something curious: One of these 10 cell types was drastically diminished.

These missing neurons were identified by their location in the lower part of the substantia nigra and an active AGTR1 gene, lab member Tushar Kamath and colleagues found. That gene was thought to serve simply as a good way to identify these cells, Macosko says; researchers dont know whether the gene has a role in these dopamine-making cells fate in people.

The new finding points to ways to perhaps counter the debilitating diseases. Scientists have been keen to replace the missing dopamine-making neurons in the brains of people with Parkinsons. The new study shows what those cells would need to look like, Awatramani says. If a particular subtype is more vulnerable in Parkinsons disease, maybe thats the one we should be trying to replace, he says.

In fact, Macosko says that stem cell scientists have already been in contact, eager to make these specific cells. We hope this is a guidepost, Macosko says.

The new study involved only a small number of human brains. Going forward, Macosko and his colleagues hope to study more brains, and more parts of those brains. We were able to get some pretty interesting insights with a relatively small number of people, he says. When we get to larger numbers of people with other kinds of diseases, I think were going to learn a lot.

See more here:
A very specific kind of brain cell dies off in people with Parkinson's - Science News Magazine

Gene Editing Tools Marketresearch is an intelligence report with meticulous efforts undertaken to study the right and valuable information. The data which has been looked upon is done considering both, the existing top players and the upcoming competitors. Business strategies of the key players and the new entering market industries are studied in detail. Well explained SWOT analysis, revenue share and contact information are shared in this report analysis. It also provides market information in terms of development and its capacities.

Gene Editing Tools Market is growing at a High CAGR during the forecast period 2022-2029. The increasing interest of the individuals in this industry is that the major reason for the expansion of this market.

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Thermofisher Scientific, CRISPR Therapeutics, Editas Medicine, NHGRI, Intellia Therapeutics, Merck KGaA

Various factors are responsible for the markets growth trajectory, which are studied at length in the report. In addition, the report lists down the restraints that are posing threat to the global Gene Editing Tools market. It also gauges the bargaining power of suppliers and buyers, threat from new entrants and product substitute, and the degree of competition prevailing in the market. The influence of the latest government guidelines is also analysed in detail in the report. It studies the Gene Editing Tools markets trajectory between forecast periods.

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Gene Editing Tools Market by 2029 Thermofisher Scientific, CRISPR Therapeutics, Editas Medicine Queen Anne and Mangolia News - Queen Anne and...

While scientists know that sleep deprivation has a negative effect on the body, they are still researching how it affects different organs.

Researchers from China and the U.S. recently published a study in Stem Cell Reports on how poor sleep can affect the eyes. They found that sleep deprivation can affect both stem cells in the cornea and the tear film surface of the cornea.

Getting a good nights sleep on a regular basis is important, but according to the Centers for Disease Control and Prevention (CDC), more than one-third of adults dont get enough sleep. Doctors recommend that adults get at least 7 hours of sleep per night.

The CDC reports that not getting enough sleep can cause a myriad of health issues, such as having a higher risk for obesity, developing diabetes, and high blood pressure.

Part of the issue contributing to so many people not getting enough rest is having a sleep disorder. The National Institutes of Health reports that around 40 million Americans have a sleep disorder.

Some sleep disorders include:

For those who are not affected by a sleep disorder, the best way to regularly get enough sleep is to practice good sleep hygiene. People can accomplish this by going to bed at the same time every night, avoiding screens 1-2 hours before bed, and not drinking alcohol before bed.

The researchers in this study used mice to learn more about how sleep deprivation affects the eyes.

According to the authors, the cornea is the clear front surface of the eye. They also write that the cornea has an overlying tear film that helps keep the eyes comfortable and offers protection against infection.

The researchers were interested to find out to what degree sleep deprivation may affect stem cells in the cornea.

As Dr. Neil Neimark, a board certified family physician in functional medicine who applies stem cell therapy in his practice, noted in a TEDx Talks podcast, stem cells have healing power and all tissue repair in the body is initiated by stem cells.

The researchers of the current study assessed gene expression in the mice after 2 days of sleep deprivation and then after 10 days of sleep deprivation.

At the 2-day point, the researchers found that 287 genes were significantly upregulated and 88 were downregulated in corneas. At the 10-day point, they saw 272 significantly upregulated genes and 150 downregulated genes.

The authors tested the mice after 1 and 2 months of further sleep deprivation and found that the transparency of the cornea was reduced and the ocular surface was rough.

While stem cells were upregulated in the sleep-deprived mice early on, it eventually led to what the authors referred to as an early manifestation of limbal stem cell deficiency. After being upregulated for so long, the stem cells became depleted.

Short-term consequences of insufficient sleep or delayed sleep cause ocular discomfort, including dryness, pain, pruritus, and hyperemia of the eye, the authors note.

Despite these issues, the authors observed that treating the mice with damaged corneas with eye drops containing antioxidants helped restore the eye health of the mice.

Dr. Howard R. Krauss, a surgical neuro-ophthalmologist and director of Neuro-Ophthalmology for the Pacific Neuroscience Institute at Providence Saint Johns Health Center in Santa Monica, CA, who was not involved in the study, spoke to Medical News Today about the findings.

The design of the study was to study chemical and cellular changes in the ocular surface of sleep-deprived mice, revealing indeed that there are damaging effects, which shed light on mechanisms which may be at play in human symptoms and disease, Dr. Krauss said.

While Dr. Krauss thought the study was helpful at showing how sleep deprivation can potentially affect humans, he noted a limitation.

A weakness of the study is the methodology by which sleep deprivation is induced in mice, who are in cages, perched on sticks to remain above a water-filled bottom when the mouse falls asleep, it falls into the water, immediately wakes up, and climbs back up onto the stick, Dr. Krauss explained.

Dr. Krauss said the method used to induce sleep deprivation raises the question of how much of the chemical and cellular change they observed was purely secondary to sleep deprivation and how much may be a stress reaction to the means by which sleep deprivation has been engineered.

Nonetheless, the study refocuses our attention on sleep deprivation and leads us to think that the scope of damaging effects of sleep deprivation may be far [broader] than we realize, he said.

As such, the human need for sleep for maintenance of good health becomes more obvious every day. Dr. Howard R. Krauss

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Sleep deprivation may increase the risk of eye disease - Medical News Today