Category Archives: Genetic Medicine

Osteoarthritis takes a major toll on quality of life. In addition to pain, stiffness, and loss of mobility, patients with this progressive disease are at risk of losing muscle tone, strength, and stamina. Patients with osteoarthritis often struggle with anxiety, depression, isolation, and financial difficulties as they lose their ability to work.1

In the quest to improve patient outcomes, top osteoarthritis experts are taking a 3-pronged approach to tackling this disease. These efforts target ways to prevent osteoarthritis, improve diagnosis, monitor disease progression, and evaluate treatment options.

Rather than prioritizing the treatment of osteoarthritis, numerous rheumatologists are focusing their research efforts on ways of preventing disease onset. Virginia Byers Kraus, MD, PhD, is a professor of medicine, pathology, and orthopedic surgery at Duke University School of Medicine in Durham, North Carolina. In her recent interview with Rheumatology Advisor, she noted that some of her osteoarthritis research focuses on identifying genetic contributors that increase an individuals risk of developing osteoarthritis. According to Kraus, Very large studies have identified more than 80 genetic contributors to osteoarthritis Several [of these genes cause] changes in growth factors, supporting a view that in part, osteoarthritis is a failure to adequately repair ongoing daily joint damage.

Now that this mechanism has been identified, she says, I work on biochemical markers and have found that a low level of biomarkers related to joint tissue synthesis predicts risk of osteoarthritis progression of the knee.

Addressing osteoarthritis biomarkers is also a research focus for David T. Felson, MD, MPH, professor of medicine and epidemiology at Boston University Schools of Medicine and Public Health. Specifically, Dr Felson identifies biomechanical risk factor associated with osteoarthritis. He then tests biomechanical treatments in an effort to determine if addressing those risk factors can delay or prevent the onset of osteoarthritis. In 2019, Dr Felson received a National Institutes of Health P30 Center Grant to further his study of osteoarthritis. P30 Center Grants are awarded to researchers who collaborate on multidisciplinary, network research efforts in their areas of study.

As osteoarthritis prevention research continues, experts are developing methods for establishing the diagnosis of this condition earlier. As osteoarthritis is a progressive disease, Dr Kraus says, early diagnosis and improved disease tracking are crucial because it is very disabling and highly prevalent around the world and a major contributor to inability to engage in physical activity and, thereby, heart disease.

Ali Guermazi, MD, PhD, professor of radiology and rheumatology at Boston University School of Medicine, has been working to improve the process of diagnosis of osteoarthritis. A board-certified radiologist, Dr Guermazi focuses on the use of magnetic resonance imaging (MRI) to diagnose and track the progression of osteoarthritis, as well as to identify structural risk factors for osteoarthritis. Dr Guermazi contributed to the development of several radiologic methods for assessing risk and progression of osteoarthritis in the knee and hip, including a technique for measuring joint space width, since this marker is an indicator of osteoarthritis progression.

An integral approach to improved care in osteoarthritis is, of course, evaluating new and accepted treatment protocols. Dr Felson studies the efficacy of applying accepted rheumatologic disease treatments to patients with osteoarthritis. Jeffrey Katz, MD, MS, director of the Orthopaedic and Arthritis Center for Outcomes Research at Brigham and Womens Hospital in Boston, Massachusetts, also studies treatment efficacy. Dr Katzs work is of a comparative nature in that he studied patients with osteoarthritis and torn menisci, a common side effect of the disease, investigating whether surgery or rehabilitative therapy provide better recovery outcomes.

Dr Kraus is also interested in treatments for osteoarthritis; her work focuses on identifying new osteoarthritis therapies. We have been working on [the study of] regenerative microRNA that humans share with limb-regenerating salamanders, says Dr Kraus. MicroRNA are a class of noncoding ribonucleic acid, a substance present in all living cells, which are involved in regulating the ways genes express themselves.2 Dr Kraus chose to focus on this area of research because we believe [the miRNA] hold promise as a future means of boosting the innate but insufficient regenerative capacity of the human joint. If successful, her research could help to reverse existing disease damage in people with osteoarthritis, something that is not yet possible with current therapy.

By tackling OA on all fronts, the experts profiled hope to reduce the impact of this progressive disease, which is currently the most prevalent form of arthritis in the United States.3 With research advances, patients with osteoarthritis can hope to see improvement in symptom management and limited disease progression, while gaining valuable tools to help delay disease onset.

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How Top Experts Are Advancing Osteoarthritis Care and Assessments in the United States - Rheumatology Advisor

Researchers say they have potentially developed a new, more convenient tests for the coronavirus that uses the genetic technology known as CRISPR and could produce results in less than an hour.

The researchers at Massachusetts Institute of Technology and the Broad Institute say the new test, known as STOPCovid, was found to be as accurate as the current molecular test known as aPCR test. They tested 400 patient samples and the new test was found to detect 93% of positive cases.Their findings were published in theNew England Journal of Medicine this week.

"We found that we could essentially match the gold standard," said Jonathan Gootenberg, a McGovern Institute fellow at MIT. "This could be done very rapidly and without expensive instrumentation."

Omar Abudayyeh, another MIT McGovern fellow working on the research, said the test is sensitive and can detect even a low amount of the virus. He said the testing would be most useful as a regular diagnostic tool that would be repeatedly test patients.

"If you're cheap enough and easy enough to run every day, you're going to capture someone when their viral load is high enough that you'll be able to take them out into quarantine before they can spread," Abudayyeh said.

The researchers useda CRISPR-based process to concentrate viral genetic material in a test sample. They said that would eliminate the need for the testing materials that are currently in short supply because of the pandemic, and a commercial lab would not have to process the results.

"Using these technologies will really allow for much more rapid testing down from days to sometimes less than an hour," said MIT McGovern fellow Jonathan Gootenberg. "That would enable a drastic change in how the tracing and handling of the pandemic is done."

They hope to further simplify the test so it can be used by patients at home. Gootenberg said they are working with clinical test developers to have this type of test on the market in a few months.

The researchers worked with other scientists at the University of Washington, Fred Hutchinson Cancer Research Center, Brigham and Women's Hospital, and the Ragon Institute.

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MIT, Harvard Researchers Say They're Close To A New Rapid COVID Test - WBUR

SCOTCH PLAINS, N.J. (PRWEB) September 18, 2020

NJ Top Docs, Dr. William Ziegler and Dr. Alan Martinez of the Reproductive Science Center of New Jersey strive to provide the highest quality medical care in a comfortable compassionate environment. COVID-19 has not slowed down the technological advancements at the Reproductive Science Center of New Jersey.

At the Reproductive Science Center of New Jersey, Dr. William Ziegler and Dr. Alan Martinez have the ability to assess their patients embryos for genetic abnormalities prior to transferring them into the uterus utilizing Pre-Implantation Genetic Testing. These NJ Top Docs are also able to assess the patients uterine lining for receptivity to make sure the uterine environment is properly prepared to accept the embryo.

A few safety precautions being taken at the Reproductive Science Center of New Jersey during the pandemic include limiting use of the waiting area, patients have the opportunity to schedule consultations using telemedicine, and if an in-office procedure or visit is required, the patients are scheduled in a way to reduce patient-to-patient exposure. In addition to many other safety precautions, each exam room is cleaned with 70% alcohol wipes between each patient visit.

To date, COVID-19 does not appear to affect a pregnancy if the mother contracts the virus. However, due to the uncertainty of the virus in pregnancy, Dr. Ziegler and Dr. Martinez have expanded their consultations to include information about the possible effects to the mother and her pregnancy when COVID-19 positive.

In addition, the laboratory at the Reproductive Science Center of New Jersey has separated the embryos created prior to the COVID-19 outbreak from those created after the pandemic.

To learn more about the NJ Top Docs at the Reproductive Science Center of New Jersey please visit: https://njtopdocs.com/nj-doctors/rscnj/

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NJ Top Docs is a comprehensive, trusted and exclusive healthcare resource featuring reviewed and approved Top Doctors and Dentists in New Jersey online in an easy to use format. NJ Top Docs only reviews and approves providers based on merit after they have been extensively vetted.

NJ Top Docs is a division of USA Top Docs which allows patients to meet providers online before making their appointment.

For more information, please click here to contact us or visit http://www.NJTopDocs.com.

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The Reproductive Medicine Specialists At Reproductive Science Center of NJ Continue To Serve Patients Throughout The COVID-19 Pandemic - PR Web

Newswise Boston, Mass. Joseph F. Arboleda-Velsquez, MD, PhD, an Assistant Professor of Ophthalmology at Harvard Medical School and assistant scientist at Massachusetts Eye and Ear who studies small vessel disease in the brain and the eye, has been awarded a five-year, $4 Million gift from Good Ventures to spur his labs groundbreaking work into Alzheimers disease genetic resistance.

This transformational gift will enable Dr. Arboleda-Velsquez to build upon the recent discovery of a genetic mutation that protected a woman who had a high familial risk for the condition and amyloid plaque deposits in her brain against early-onset Alzheimers disease.

The gift funds will support two research projects that aim to:

In November 2019, Dr. Arboleda-Velsquez and colleagues at Mass Eye and Ear, Mass General Hospital, and the Neuroscience Group of Antioquia, Colombia reported in Nature Medicine identification of a genetic mutation of the APOE gene the major susceptibility gene for late-onset Alzheimers in an older woman who did not develop the disease despite her strong family history. The researchers hypothesized this genetic mutation may have provided protection against the devastating neurological illness.

By agreeing to participate in research, one woman opened the door for a groundbreaking discovery to happen, and that action really showed our research team the power of one, said Dr. Arboleda-Velsquez. Good Ventures did the same through the organizations generosity, and are making a huge difference to help us reach the next step in this discovery.

Gift will build upon prior research identifying a gene that provided resistance to Alzheimers

The rare genetic variation linked to Alzheimers protection, called, APOE3 Christchurch (APOEch), was identified in one woman who was part of the Mass General Colombia-Boston Biomarker Study (COLBOS), which follows individuals from Colombia at the highest risk to develop early-onset Alzheimers disease due to a E280A mutation in a gene called presenilin 1 (PSEN1). This woman, however, did not develop mild cognitive impairment until her late 70s, about 30 years later than other genetic carriers in the study. Imaging tests showed she had unusually high levels of amyloid plaque deposits in the brain, which are telltale markers of Alzheimers, despite not showing symptoms. Dr. Arboleda-Velsquez and colleagues genetic analysis revealed that this woman carried two copies of APOEch.

With the new funding from Good Ventures, Dr. Arboleda-Velazquez and colleagues in Colombia will accelerate this work and examine this family line for other possible genetic mutations that may provide disease protection. They believe that their genetic will lead to the discovery of related drug and gene therapies for Alzheimers.

The research team at Mass Eye and Ear first became interested in this genetic variant when they were investigating genetic mutations linked to protection against age-related macular degeneration (AMD). This neurodegenerative eye disease, which shares some commonalities with Alzheimers disease, is a leading cause of blindness in people over 50.

"Dr. Arboleda-Velazquezs gift from Good Ventures is a well-deserved recognition of his unique work, which may one day greatly impact the prevention of genetic diseases that degenerate brain function and vision," saidJoan W. Miller, MD, Chief of Ophthalmology at Mass Eye and Ear, Massachusetts General Hospital, and Brigham and Womens Hospital, and Chair of Ophthalmology and David Glendenning Cogan Professor of Ophthalmology at Harvard Medical School.

About Dr. Arboleda- Velasquez:

Dr. Arboleda-Velsquez joined the full-time faculty of Harvard Medical School in 2012 after completing a postdoctoral fellowship in the laboratory of Patricia A. DAmore, PhD, MBA, Associate Chief for Ophthalmology Basic and Translational Research at Mass Eye and Ear, and the Vice Chair for Basic Research and Translational Research for Harvard Ophthalmology.

In 2000, Dr. Arboleda-Velsquez earned his MD in General Medicine, graduating class valedictorian, from the University of Antioquia, in Medellin, Colombia, where he worked extensively with individuals who had familial Alzheimers disease and stroke. In 2009, he received his PhD in Cell and Developmental Biology from Harvard Medical School.

About Mass Eye and Ear

Massachusetts Eye and Ear, founded in 1824, is an international center for treatment and research and a teaching hospital of Harvard Medical School. A member ofMass General Brigham, Mass Eye and Ear specializes in ophthalmology (eye care) and otolaryngologyhead and neck surgery (ear, nose and throat care). Mass Eye and Ear clinicians provide care ranging from the routine to the very complex. Also home to the world's largest community of hearing and vision researchers, Mass Eye and Ear scientists are driven by a mission to discover the basic biology underlying conditions affecting the eyes, ears, nose, throat, head and neck and to develop new treatments and cures. In the 20202021 Best Hospitals Survey,U.S. News & World Reportranked Mass Eye and Ear #4 in the nation for eye care and #6 for ear, nose and throat care.For more information about life-changing care and research at Mass Eye and Ear, visit our blog,Focus, and follow us onInstagram,TwitterandFacebook.

About Harvard Medical School Department of Ophthalmology

The Harvard Medical SchoolDepartment of Ophthalmologyis one of the leading and largest academic departments of ophthalmology in the nation. Composed of nine affiliates (Massachusetts Eye and Ear, which is home to Schepens Eye Research Institute; Massachusetts General Hospital; Brigham and Womens Hospital; Boston Childrens Hospital; Beth Israel Deaconess Medical Center; Joslin Diabetes Center/Beetham Eye Institute; Veterans Affairs Boston Healthcare System; Veterans Affairs Maine Healthcare System; and Cambridge Health Alliance) and several international partners, the department draws upon the resources of a global team to pursue a singular goaleradicate blinding diseases so that all children born today will see throughout their lifetimes. Formally established in 1871, the department is committed to its three-fold mission of providing premier clinical care, conducting transformational research, and providing world-class training for tomorrows leaders in ophthalmology.

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Mass Eye and Ear Receives $4 Million Gift to Accelerate Research on Genetic Links to Alzheimers Disease Resistance - Newswise

FREMONT, Calif., Sept. 17, 2020 /PRNewswire/ -- The global precision medicine marketis projected to reach $278.61 billion by 2030, reveals a premium market intelligence report by BIS Research. The study also highlights that the market is set to witness a CAGR of 11.13% during the period between 2020 and 2030.

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The detailed report is a compilation of 19 Market Data Tables and 330 Figures spread through 529 Pages and in-depth TOC on "Global Precision Medicine Market"

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The BIS Research report indicates that the increasing number of genetic tests taken, the growing demand for reliable next-generation sequencing (NGS) results, the rising prevalence of infectious diseases, and the improving funding scenario in the field of precision medicine, among others, are fueling the growth of the market.

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Data from different segments of the market has been analyzed minutely to gain a holistic view of the market. These segments include types of products offered, technologies used, sources used, applications, and regions. Each of these segments is further categorized into sub-segments and micro-segments to compile an in-depth study.

The technology and ecosystem analysis of the global market includes data analysis on the satisfaction level of different pricing analysis of preferred instruments, accessories and components, and consumables. The study is majorly centered on the sub-segments and micro-segments of the different product markets, such as consumables and instruments. The consumables are further categorized into kits and reagents.

Emphasizing the dominance of North America in global precision medicine market in 2019 and 2020, Nitish Kumar Singh, Lead Analyst BIS Research, states, "InNorth America, several established diagnostics manufacturers are focusing on expanding their portfolio in NGS-based molecular diagnostics and are collaborating with service providers and pharmaceutical giants to co-market molecular diagnostics solutions with its complementary precision medicine solutions. Moreover, the U.S. government is undertaking a number of initiatives to develop of precision drugs and tests for oncology and non-oncology diseases and provide funds to new startups in the molecular diagnostics and precision medicine field."

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Key insights are drawn from in-depth interviews with the key opinion leaders of more than 40 leading companies, market participants, and vendors. The key players profiled in the report includeAbbott Laboratories, Almac Group Ltd, Amgen Inc., ANGLE plc, Astellas Pharma Inc., Astra Zeneca PLC, ASURAGEN INC., Bio-Rad Laboratories, Inc., bioMrieux SA., Bristol-Myers Squibb Company, Cardiff Oncology, CETICS Healthcare Technologies GmbH, Danaher Corporation, Eli Lilly and Company Limited, Epic Sciences, Inc., F. Hoffmann-La Roche Ltd, GE Corporation, Gilead Sciences, Inc., GlaxoSmithKline Plc, Illumina, Inc., Intomics A/S, Johnson & Johnson Company, Konica Minolta, Inc., Laboratory Corporation of America, MDx Health, Inc., Menarini Silicon Biosystems, Inc., Merck & Co., Inc., Myriad Genetics, Inc., Novartis AG, Oracle Corporation, Partek, Inc., Pfizer, Inc., QIAGEN N.V., Quest Diagnostics Inc, Randox Laboratories Ltd., Sanofi SA, Sysmex Corporation, Teva Pharmaceuticals Industries Ltd., and Thermo Fisher Scientific, Inc.

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How can this market intelligence report on precision medicine add value to an organization's decision-making process?

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Related BIS Research Market Reports:

Global NGS Sample Preparation Market - Analysis and Forecast, 2019-2025

Global Next Generation Sequencing (NGS) Market - Analysis and Forecast, 2019-2024

Global Rare Disease Diagnostics Market - Analysis and Forecast, 2018-2025

About BIS Research:

BIS Researchis a global B2B market intelligence and advisory firm focusing on deep technology and related emerging trends which can disrupt the market dynamics in the near future. We publish more than 200 market intelligence studies annually that focus on several deep technology verticals.

Our strategic market analysis emphasizes on market estimations, technology analysis, emerging high-growth applications, deeply segmented granular country-level market data, and other important market parameters useful in the strategic decision-making for senior management.

BIS Research offers syndicate as well as, custom studies, and expert consultations to firms, providing them specific and actionable insights on novel technology markets, business models, and competitive landscape.

BIS Healthcare vertical offers intelligence in the healthcare technology market for Medical Devices, Digital Health, Life Sciences, Robotics and Imaging, Information Technology, Precision Medicine, and other emerging healthcare technologies, covering the entire industry spectrum. In the past 5 years, BIS Healthcare has published more than 50 reports under the precision medicine banner. Additionally, BIS Research has been nominating Top 25 Voices in Precision Medicine on its Insight Monk platform for the past two years successfully.

Contact:

Bhavya BangaEmail: [emailprotected] BIS Research Inc.39111 PASEO PADRE PKWY STE 313,FREMONT CA 94538-1686Visit our Blog @ https://blog.bisresearch.com/ Connect with us on LinkedIn @ https://www.linkedin.com/company/bis-researchConnect with us on [emailprotected] https://twitter.com/BISResearch

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BIS Research Report Highlights the Global Precision Medicine Market to Reach $278.61 Billion by 2030 - PRNewswire

Researchers believe they have found evidence that the novel coronavirus may have been circulating in the US as early as late December, about a month before the current timeline from the US Centers for Disease Control and Prevention shows.

This study, published last Thursday in the Journal of Medical Internet Research, found a statistically significant uptick in clinic and hospital visits by patients who reported respiratory illnesses as early as the week of December 22.

The researchers noticed this trend by looking through nearly 10 million medical records from the UCLA Health system, including three hospitals and 180 clinics.

The first known case of Covid-19 in the US was thought to be a patient in Washington who had visited Wuhan,China, according to the CDC. The 35-year-old patient first went to a clinic for symptoms on January 19, according to a report that ran in March in the New England Journal of Medicine. It wasnt until late February that the CDC detected the first cases of community spread, although the CDC later found evidence community transmission began in late February.

In China, the first known case of Covid-19 was in a person who developed symptoms on December 1, according to a study from the Lancet. That means the patient could have been exposed to the disease as early as November. A handful of ongoing studies have found some evidence that the virus may have been circulating in Europe in December, or earlier.

Dr. Joann Elmore, who worked on the new study, said she started looking through the records after receiving a number of emails from anxious patients in March through her clinics patient portal at UCLA. Patients kept asking if the cough they had in January could have been Covid-19. The UCLA physician, who also trained as an epidemiologist, said she was curious, so she started this study.

Elmore and her colleagues noticed the spike in respiratory cases by searching the field in medical records that lists why someone came to the clinic and searched for the symptom cough. They looked at the records for the month of December 2019 through February 2020 and compared their findings to records from the five prior years.

With the outpatients, I found a 50% increase in the percentage of patients coming in complaining of a cough. It came out to over 1,000 extra patients above the average of what we would typically see, Elmore said.

The number of patient visits to the ER for respiratory complaints, as well as the number of people hospitalized with acute respiratory failure between December 2019 and February 2020, showed a similar increase compared to records from the past five years. The uptick in cases started in the final week of December.

Some of these cases could have been due to the flu, some could be for other reasons, but to see these kinds of higher numbers even in the outpatient setting is notable, Elmore said.

While scientists may never know for sure if these excess patients were early Covid-19 cases, Elmore doesnt think its out of the question.

Our world is so interconnected. There are about 500 flights from China a month to LAX, so you could easily have one or two cases from that travel and it could get into the community, Elmore said.

Elmore hopes this research shows that real time data collected on diseases like this could potentially help public health experts identify and track emerging outbreaks much earlier and potentially slow or stop the spread of disease.

Dr. Claudia Hoyen, is an infectious disease specialist at University Hospitals Cleveland Medical Center who did not work on the study, also believes its possible Covid-19 may have been in the US much sooner than first realized.

Based on what we know of a few other studies and now this one, I think definitely this could be something, Hoyen said. Its certainly something that needs to be considered.

Hoyen said the bigger takeaway from this study for her was that it points to the possibility that data like this could augment some of the disease surveillance the CDC is already doing for diseases like flu.

Is there a way to mine the data in other ways that may have picked up on some of the other symptoms that people were presenting with, so we had a better understanding of disease sooner? Hoyen asked. Then maybe instead of a month into it, like when we were seeing a lot of patients complaining of loss of taste and smell, if we had analyzed the data beforehand, we may have picked up those kinds of symptoms much sooner.

Kristian Andersen, a professor in the Department of Immunology and Microbiology at Scripps Research, doesnt believe Covid-19 is to blame for the rise in the number of patients with respiratory ailments in California in late December.

We know from the SARS-CoV-2 genetic data that the pandemic started in late November / early December in China so theres absolutely no way the virus could have been spreading widely in December 2019. From the same genetic data we know that widespread transmission didnt start in the United States until (around) February 2020, Andersen said in an email.

The paper is picking up spurious signals and the hospitalizations are more likely from flu or other respiratory diseases, Andersen wrote. Again, the genomic data clearly shows that there was no widespread transmission of SARS-CoV-2 in the United States in December of last year there may have been a few sporadic cases, but thats it and certainly not something that would have been seen in excess hospitalizations.'

Dr. Jeanne Marrazzo an infectious disease specialist who also was not involved in the study, disagrees. She thinks the conclusion, particularly since the study captures outpatient records, is persuasive.

If we had more precise genetic phylogenetic data of the spread of the virus, I think that could be very interesting, but in the absence of that, you can do a lot of work by inferring some preexisting patterns from these types of analyses, said Marrazzo, the director of the division of infectious diseases at the University of Alabama at Birmingham School of Medicine. Primary care data like this is useful and we really need to pay attention to it.

When you compare these numbers to previous years, theres no good explanation in my mind why all of the sudden you would see that dramatic increase in the records, except for Covid, Marrazzo said. Just the strength of the numbers of information, when you include the outpatient, it shows a pattern.

Neither the CDC nor the WHO responded to CNNs request for perspective on the research or on the official time line of the pandemic.

Marrazzo said she and infectious disease colleagues across the country have been discussing how often they were seeing patients with what we now know as Covid-19 symptoms earlier than the official timeline. Because of the sharp restrictions the CDC placed on testing early in the pandemic, it was difficult to confirm if respiratory cases they were seeing were caused by coronavirus.

I have no doubt that we all missed cases in the early part of the pandemic, Marrazzo said. This study offers a really interesting window into what might actually have been happening.

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Study hints Covid-19 may have been in the US as early as December - KVIA El Paso