sequencing

Biocompare Collaborates with GE Healthcare Life Sciences to Create Next-Gen Sequencing Information Source

In collaboration with GE Healthcare Life Sciences, Biocompare has re-launched its next-generation sequencing (NGS) content hub called Future Lab: Trends in Next-Gen Sequencing. The new version of this indispensable information source features all new content, including the latest news and information, the biggest trends, and the most significant NGS-related breakthroughs.(PRWeb February 24, 2020)Read the full story at https://www.prweb.com/releases/biocompare_collaborates_with_ge_healthcare_life_sciences_to_create_next_gen_sequencing_information_source/prweb16914915.htm

Largest Autism Sequencing Study to Date Identifies 102 Genes Associated With the Condition

“This is a landmark study, both for its size and for the large international collaborative effort it required.” – Joseph Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai

NEW YORK (PRWEB) January 23, 2020
In the largest genetic sequencing study of autism spectrum disorder (ASD) to date, researchers have identified 102 genes associated with risk for autism. The study also shows significant progress towards teasing apart the genes associated with ASD from those associated with intellectual disability and developmental delay, conditions which often overlap. The study results are published online January 23 in the journal Cell.
For this study, an international team of researchers from more than 50 sites collected and analyzed more than 35,000 participant samples, including nearly 12,000 with ASD, the largest autism sequencing cohort to date. Using an enhanced analytic framework to integrate both rare, inherited genetic mutations and those occurring spontaneously when the egg or sperm are formed (de novo mutations), researchers identified the 102 genes associated with ASD risk. Of those genes, 49 were also associated with other developmental delays. The larger samples size of this study enabled the research team to increase the number of genes associated with ASD from 65 in 2015 to 102 today.
“This is a landmark study, both for its size and for the large international collaborative effort it required. With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches,” said Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at Mount Sinai, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
Obtaining such a large sample was made possible by the Autism Sequencing Consortium (ASC), an international group of scientists who share ASD samples and data. Co-founded by Dr. Buxbaum in 2010 and originally funded by the Beatrice and Samuel A. Seaver Foundation and the Seaver Autism Center for Research and Treatment at Mount Sinai, the ASC is now a multiple-Principal Investigator grant funded by the National Institute of Mental Health.    
In addition to identifying subsets of the 102 ASD-associated genes that have disruptive de novo variants more often in people with developmental delays or those with ASD, the researchers showed that ASD genes impact brain development or function and that both types of disruptions can result in autism. They also found that both major classes of nerve cells—excitatory neurons, which trigger a positive and activating change in the downstream neuronal membrane upon firing, and inhibitory neurons, which trigger a negative change upon firing—can be affected in autism.
“Through our genetic analyses, we discovered that it’s not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism. It’s critically important that families of children with and without autism participate in genetic studies because genetic discoveries are the primary means to understanding the molecular, cellular, and systems-level underpinnings of autism,” said Dr. Buxbaum. “We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism.”
About the Seaver Autism Center for Research and Treatment
The Seaver Autism Center is one of the most recognized institutions of its kind in the world because of its ability to translate breakthroughs in the lab to clinical trials that bring cutting-edge treatment to individuals affected by autism spectrum disorder (ASD) and associated neurodevelopmental disorders. We offer compassionate care, including assessment and behavioral health services, to children and families, as well as educational and community outreach programs. Founded in 1993 and located at the Icahn School of Medicine at Mount Sinai, families come from around the world to seek our services and the expert counsel of our team of scientists, researchers and clinicians.
For more information, visit: http://www.seaverautismcenter.org, or find the Seaver Autism Center on Facebook, Twitter and Instagram.
About the Mount Sinai Health System
The Mount Sinai Health System is New York City’s largest integrated delivery system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai’s vision is to produce the safest care, the highest quality, the highest satisfaction, the best access and the best value of any health system in the nation. The Health System includes approximately 7,480 primary and specialty care physicians; 11 joint-venture ambulatory surgery centers; more than 410 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report’s “Best Medical Schools”, aligned with a U.S. News & World Report’s “Honor Roll” Hospital, No. 12 in the nation for National Institutes of Health funding, and among the top 10 most innovative research institutions as ranked by the journal Nature in its Nature Innovation Index. This reflects a special level of excellence in education, clinical practice, and research. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report’s “Honor Roll” of top U.S. hospitals; it is one of the nation’s top 20 hospitals in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Geriatrics, Gynecology, Nephrology, Neurology/Neurosurgery, and Orthopedics in the 2019-2020 “Best Hospitals” issue. Mount Sinai’s Kravis Children’s Hospital also is ranked nationally in five out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked 12th nationally for Ophthalmology, Mount Sinai St. Lukes and Mount Sinai West are ranked 23rd nationally for Nephrology and 25th for Diabetes/Endocrinology, and Mount Sinai South Nassau is ranked 35th nationally for Urology. Mount Sinai Beth Israel, Mount Sinai St. Luke’s, Mount Sinai West, and Mount Sinai South Nassau are ranked regionally.
For more information, visit https://www.mountsinai.org or find Mount Sinai on Facebook, Twitter and YouTube.

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MicroGenDX Next-Gen DNA Sequencing Used in Breakthrough Knee Infection Study: Rothman Institute Accepts Eastern Orthopaedic Association’s Musculoskeletal Infection Award

Eastern Orthopaedic Association Award Winners

This study is further evidence that NGS technology is superior to traditional culture techniques.

ORLANDO, Fla. (PRWEB) November 11, 2019
MicroGenDX, the world leader in providing Next Generation DNA Sequencing (NGS) in microbial identification, played a key role in the award-winning study “Next Generation Sequencing for the Diagnosis of Periprosthetic Knee Infection: A Multicenter Investigation” led by the Rothman Institute. The molecular diagnostic laboratory processed samples using Next Generation DNA Sequencing to examine the ability of NGS to identify the causative organisms in patients with PJI of the knee. The study recently accepted the Eastern Orthopaedic Association’s Musculoskeletal Infection Award.
“This is a quantum leap in orthopedics,” says Javad Parvizi, MD. “In my practice alone, using NGS to study the microbiome of joints allowed us to isolate the infective organisms in over 90% of culture negative cases. This is science moving the clinical practice to another realm.”
Identifying the infecting organism in periprosthetic joint infection (PJI) as well as surgical management of PJI remains a challenge with a third of PJIs reported to have negative cultures. The multi-institutional investigation was initiated to examine the ability of NGS to identify the causative organisms in patients with PJI of the knee.
“The use of NGS in my patient population has been transformative,” continues Dr. Parvizi. “I have access to comprehensive microbial data quickly which expedites administration of appropriate antimicrobials and substantially improves outcome of surgical care.”
The hypothesis of this multicenter endeavor was that NGS is able to identify potential pathogens in the majority of culture-negative PJIs. Findings of the study point convincingly to the demonstrative value of diagnosing chronic infections with Next-Generation DNA Sequencing.
“This study is further evidence that NGS technology is superior to traditional culture techniques,” says Rick Martin, MicroGenDX CEO. “Our advanced molecular diagnostic test gives hope to patients suffering from devastating chronic infections and will help to save limbs and lives.”
About MicroGenDXMicroGenDX is a CAP accredited and CLIA certified molecular diagnostic lab and is the leader in providing the gold standard of microbial diagnostics via DNA technology: Next Generation DNA Sequencing (NGS), qPCR and Resistance Gene detection. Through the utilization of a curated database of 50,000+ microbial species DNA Sequence codes, MicroGenDX provides clinicians and their patients with the most informative microbial diagnostic testing that science can offer; resulting in better outcomes.
Unlike the traditional culturing of samples, Next Generation DNA Sequencing is able to extract the microbial DNA from the sample you provide and report precisely what the patient is dealing with via NGS technology versus what a lab was able to grow. This technology allows for faster and more accurate diagnostics resulting in improved treatment and healing times in clinical outcomes.
MicroGenDX has over 10 years experience running more NGS samples – over 400,000 and counting — than any laboratory in the world. The laboratory location in Lubbock Texas MicroGenDX is led by a team of molecular biologists, biochemists, and physicians.
To learn more information, visit microgendx.com.

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MicroGenDX Next-Generation DNA Sequencing to Take Center Stage at American Association of Hip and Knee Surgeons to Reveal New Findings in Periprosthetic Joint Infection

Using NGS to study the microbiome of joints will enhance our understanding of orthopedic diseases in general and orthopedic infections in particular. This is science moving the clinical practice to another realm.

ORLANDO, Fla. (PRWEB) November 08, 2019
MicroGenDX Laboratories, the world leader in providing Next Generation DNA Sequencing (NGS) in microbial identification, equipped a groundbreaking multicenter study with its gold standard NGS test to be featured at American Association of Hip and Knee Surgeons (AAHKS). Renowned orthopedic surgeon Javad Parvizi, MD will take the podium multiple times to discuss results of the paramount study “Reinfection or Persistence of Periprosthetic Joint Infection? Next generation sequencing Reveals New Findings.”
“NGS is revolutionizing the microbial diagnosis of chronic infections in orthopedics” says Javad Parvizi, MD. “Using NGS to study the microbiome of joints will enhance our understanding of orthopedic diseases in general and orthopedic infections in particular. This is science moving the clinical practice to another realm.”
Surgical management of PJI remains challenging with patients failing treatment despite best efforts. The multicenter study hypothesized that some of these failures, if not the majority, are the result of an organism that was present at the time of initial surgery. This phenomenon of persistence was investigated with the help of MicroGenDX Next-Generation DNA Sequencing.
“New advancements in microbial diagnostics should be supported by high quality medical evidence,” says MicroGenDX CEO, Rick Martin. “We are committed to supporting clinical trials that demonstrate NGS is superior to traditional culture techniques so that this technology can help patients overcome these devastating infections.”
Dr. Parvizi will take the podium multiple times at AAHKS to discuss the exciting findings of this study and the implications for future treatment of recurring orthopedic infections.
“NGS is one of the most important advances that medicine has seen in the recent decade,” says Dr. Parvizi. “Data from orthopedics and other surgical disciplines has demonstrated that NGS has been transformative in the management of patients with infections. We have a new gold standard in antimicrobial treatment that has shown to substantially improve outcome.”
Those attending AAHKS can find MicroGenDX at booth #1117 to learn more about this revolutionary technology and how to gain access to its laboratory services.
About MicroGenDXMicroGenDX is a CAP accredited and CLIA certified molecular diagnostic lab and is the leader in providing the gold standard of microbial diagnostics via DNA technology: Next Generation DNA Sequencing (NGS), qPCR and Resistance Gene detection. Through the utilization of a curated database of 50,000+ microbial species DNA Sequence codes, MicroGenDX provides clinicians and their patients with the most informative microbial diagnostic testing that science can offer; resulting in better outcomes.
Unlike the traditional culturing of samples, Next Generation DNA Sequencing is able to extract the microbial DNA from the sample you provide and report precisely what the patient is dealing with via NGS technology versus what a lab was able to grow. This technology allows for faster and more accurate diagnostics resulting in improved treatment and healing times in clinical outcomes.
MicroGenDX has over 10 years experience running more NGS samples – over 400,000 and counting — than any laboratory in the world. The laboratory location in Lubbock Texas MicroGenDX is led by a team of molecular biologists, biochemists, and physicians.
To learn more information, visit http://www.microgendx.com.

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Application of Whole-Genome Sequencing in Older Esophageal Carcinoma FFPE Tissues Reveals Novel Insights, Upcoming Webinar Hosted by Xtalks

In this free webinar, participants will hear about the challenges in traditional whole-genome sequencing, WuXi NextCODE’s process for generating high-quality WGS data using FFPE samples and details of a National Cancer Institute project on esophageal carcinoma samples.(PRWeb October 28, 2019)Read the full story at https://www.prweb.com/releases/application_of_whole_genome_sequencing_in_older_esophageal_carcinoma_ffpe_tissues_reveals_novel_insights_upcoming_webinar_hosted_by_xtalks/prweb16677732.htm