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Dennis OConnor

Genome Medical has Partnered with LunaDNA | LunaDNA - 0 views

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    "Our partner, Genome Medical, makes it easy for you to speak with a clinical professional about your DNA information. Interested in DNA testing but don't know where to begin? The experts at Genome Medical can help with that, too. Access your data files directly from your LunaDNA dashboard to support proactive health discussions. Help you better understand your genetic test results or help you determine if testing is right for you Explain your health risks based on your family and personal health history Offer guidance on how you can integrate your results into your health care Assess whether family members should consider genetic testing Within days from scheduling your phone or video appointment, speak with a board-certified genetic counselor who can: Genome Medical's genetic counselors do not analyze raw data from various DNA vendors, such as 23andme and AncestryDNA. However, they can answer any of your specific medical questions and determine if additional genetic testing is right for you and your family. SCHEDULE YOUR SESSIONASK A QUESTION SELF-PAY $99 AS LOW AS $50 With qualified insurance the cost for genetic counseling may be as low as $50 if the consultation is a covered service under your plan. © 2020 LunaPBC. All rights reserved. ABOUT US   LunaDNA was created by the Public Benefit Corporation, LunaPBC™, a team of passionate genomics and technology veterans. 2019 Technology Pioneers World Economic Forum SELF-PAY $99 AS LOW AS $50 With qualified insurance the cost for genetic counseling may be as low as $50 if the consultation is a covered service under your plan. SCHEDULE YOUR SESSIONASK A QUESTION HOW IT WORKSRESOURCES 2020 Most Innovative Companies Fast Company "
Dennis OConnor

The expanding landscape of consumer genetic health testing - Precision Medicine Advisors - 0 views

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    Recommended by DeAunne Denmark, MD, PhD: "Consumer genetic testing for health conditions has always been viewed with some skepticism by healthcare professionals. For many, direct-to-consumer (DTC) genetic testing was synonymous with 23andMe, whose health-related products are perceived as having little to no value for health care. But the landscape for consumer-initiated genetic health testing has changed dramatically in just the last year."
Dennis OConnor

A global effort to define the human genetics of protective immunity to SARS-CoV-2 infec... - 0 views

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    Recommended by Meg Sweeney: "Abstract SARS-CoV-2 infection displays immense inter-individual clinical variability, ranging from silent infection to lethal disease. The role of human genetics in determining clinical response to the virus remains unclear. Studies of outliers - individuals remaining uninfected despite viral exposure and healthy young patients with life-threatening disease - presents a unique opportunity to reveal human genetic determinants of infection and disease."
Dennis OConnor

about - COVID HUMAN GENETIC EFFORT - 0 views

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    Recommended by DeAunne Denmark, MD. Phd. : Summary of Our Work For many years, up to 25 years for some, members of the COVID Human Genetic Effort have studied the human genetic basis of life-threatening diseases striking previously healthy human beings in the course of primary infection by a variety of viruses, bacteria, fungi, or parasites. In particular, we and others have identified monogenic inborn errors of immunity (IEI) that selectively underlie life-threatening or lethal viral diseases in previously healthy children or adults, including various severe diseases caused by Epstein-Barr virus, herpes simplex virus encephalitis, varicella zoster virus encephalitis, fulminant hepatitis due to hepatitis A virus, lethal primary infection by cytomegalovirus, severe pneumonitis due to influenza virus or rhinovirus, beta-papillomavirus-driven skin cancer, human herpes virus 8-driven Kaposi sarcoma, and others (see references below).
Dennis OConnor

Genes, Blood Type Tied to Risk of Severe COVID-19 - NIH Director's Blog - 0 views

  • Many people who contract COVID-19 have only a mild illness, or sometimes no symptoms at all. But others develop respiratory failure that requires oxygen support or even a ventilator to help them recover [1]. It’s clear that this happens more often in men than in women, as well as in people who are older or who have chronic health conditions. But why does respiratory failure also sometimes occur in people who are young and seemingly healthy? A new study suggests that part of the answer to this question may be found in the genes that each one of us carries [2]. While more research is needed to pinpoint the precise underlying genes and mechanisms responsible, a recent genome-wide association (GWAS) study, just published in the New England Journal of Medicine, finds that gene variants in two regions of the human genome are associated with severe COVID-19 and correspondingly carry a greater risk of COVID-19-related death.
  • the findings suggest that people with blood type A face a 50 percent greater risk of needing oxygen support or a ventilator should they become infected with the novel coronavirus.
  • Their study included 1,980 people undergoing treatment for severe COVID-19 and respiratory failure at seven medical centers in Italy and Spain.
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  • the researchers compared SNPs in people with severe COVID-19 to those in more than 1,200 healthy blood donors from the same population groups.
  • he researchers did find evidence suggesting a relationship between blood type and COVID-19 risk. They noted that this area also includes a genetic variant associated with increased levels of interleukin-6, which plays a role in inflammation and may have implications for COVID-19 as well.
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  • Franke, Karlsen, and many of their colleagues are part of the COVID-19 Host Genetics Initiative, an ongoing international collaborative effort to learn the genetic determinants of COVID-19 susceptibility, severity, and outcomes
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    "Many people who contract COVID-19 have only a mild illness, or sometimes no symptoms at all. But others develop respiratory failure that requires oxygen support or even a ventilator to help them recover [1]. It's clear that this happens more often in men than in women, as well as in people who are older or who have chronic health conditions. But why does respiratory failure also sometimes occur in people who are young and seemingly healthy? A new study suggests that part of the answer to this question may be found in the genes that each one of us carries [2]. While more research is needed to pinpoint the precise underlying genes and mechanisms responsible, a recent genome-wide association (GWAS) study, just published in the New England Journal of Medicine, finds that gene variants in two regions of the human genome are associated with severe COVID-19 and correspondingly carry a greater risk of COVID-19-related death."
Dennis OConnor

Xconomy: LunaDNA Health Data Platform to Merge with Genetic Alliance Database - 0 views

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    "Xconomy San Diego -  LunaDNA, a startup that is offering individuals company stock in exchange for personal genomic and health information in a bid to build a database that could help advance scientific research, is merging its research platform with the Genetic Alliance's Platform for Engaging Everyone Responsibly (PEER)."
Dennis OConnor

Sharon F. Terry is President and CEO of Genetic Alliance - 0 views

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    President and Chief Executive Officer sterry (AT) geneticalliance (DOT) org Biographical Sketch Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health. Genetic Alliance works to provide programs, products and tools for ordinary people to take charge of their health and to further biomedical research.
Dennis OConnor

(The Genomics of Obesity with Sharon Hausman-Cohen, MD - YouTube - 0 views

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    American Nutrition Association The Genomics of Obesity Sharon Hausman-Cohen, MD The modernization of our society has contributed to higher rates of obesity through an environment that promotes increased caloric intake and decreased physical activity. However, recent studies suggest that genetics may contribute to 40-70% of obesity with the discovery of more than 50 genes that are strongly associated with obesity. Changes in the environment have significantly increased obesity rates over the last 20 years, and the presence or absence of genetic factors can protect us from or predispose us to obesity in conjunction with diet and lifestyle factors that support healthy weight. In this webinar, Dr. Hausman-Cohen will * Describe how the leptin pathway is interrelated to the functions of genes in the hypothalamus, as well as how inflammation, fat absorption and insulin can contribute to obesity. * Discuss how specific food intake can be linked to obesity risk and how weight loss can be individualized based on a patient's genomics. * Attain practical ways of discussing various obesity interventions and patterns with patients - whether or not practitioners have access to patient genomic data. Category"
Dennis OConnor

EpigeneticsRX - 0 views

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    "Precise. Personalized. Prevention. Express your best DNA - the power to impact genetic expression is in your hands. Epigenetics is the study of how lifestyle & environment influence the expression of your genes." OUR MISSION is to empower and inspire providers and patients in optimizing genetic potential through precise, personalized protocols that positively impact patients' health and future generations.
Dennis OConnor

Sequencing whole genomes helps diagnose more rare diseases - 0 views

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    "Researchers hope that building out sequencing data from more people in tandem with reviewing their clinical information can help steer them to more connections between genetic variants and disease. And with new technology, scientists are getting better at whittling down all the genetic noise produced by looking at someone's whole genome to home in on what's causing these conditions."
Dennis OConnor

Scientists Unlock 47 New Editable Genes After Purchasing CRISPR Expansion Pack - 0 views

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    "BOSTON-Having exhausted the possibilities of the chromosome pairs that came preloaded on the original human genome, researchers at Harvard Medical School's Department of Genetics told reporters Wednesday they had unlocked 47 new editable genes following their purchase of a CRISPR expansion pack. "This add-on has a ton of incredible new genes, and we can't wait to start inserting them into our lab specimens," said Kevin Spiros, a professor of genetics, remarking that there was nothing more fun than having "some fresh strands of recombinant DNA to play around with." "
Dennis OConnor

iHope Genetic Health - 0 views

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    "iHopeTM Genetic Health (iGH) will eliminate the barriers to genomic insights for tens of thousands of individuals across the globe each year by addressing access to high-quality clinical whole genome sequencing (cWGS) as well as education and support. Leveraging contributions of genomic sequencing technology from Illumina and donations from philanthropists and technology and logistics partners, iGH will provide awards of reagents and, where necessary, sequencers and software to enable genomic testing across the globe. iGH will provide cWGS and patient support services for undiagnosed individuals in low and middle income countries1 (LMICs) and low-to-moderate income2 (LMI) households across the globe and in the United States (US) respectively. Over time iGH will develop in-country, sustainable solutions for communities with little to no access to genomic care."
Dennis OConnor

Milasen: The drug that went from idea to injection in 10 months - 0 views

  • itting in freezer at Boston Children’s Hospital is a drug you won’t find anywhere else. It’s called milasen, and the 18 g that the hospital custom-ordered nearly 2 years ago should last for decades. That’s because milasen was designed to treat a single patient—a now 8-year-old girl named Mila Makovec. Milasen was built on decades of work on a class of drugs called antisense oligonucleotides. But after Boston Children’s Hospital scientist Timothy Yu diagnosed Mila with a never-before-seen genetic mutation, he took only 10 months to go from idea to injection. It’s a record-shattering sprint in the typical drug-development marathon, and an unprecedented degree of personalization for a chemical drug.
  • While the story of milasen could be seen as a template for other highly personalized drugs—what the field has come to call n-of-1 therapies—it also raises questions: Who should get these treatments? How will they be funded? And how will the US Food and Drug Administration regulate these projects?
  • Yu was intrigued. He reached out and offered to do whole-genome sequencing on Mila, her parents, and her younger brother.
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  • Mila’s mom, Julia Vitarello, had started a group called Mila’s Miracle Foundation to raise money to develop a gene therapy for her daughter.
  • Julia Vitarello, Mila's mother In March, Yu’s team found that a piece of DNA called a retrotransposon—the genetic remnants of viruses scattered throughout all of our genomes—had spontaneously inserted itself in the middle of a noncoding region of Mila’s CLN7 gene.
  • Black told Yu to renegotiate with the FDA. The 3-month safety study in rats, followed by another couple months to report the data, would take too long. After a letter from Vitarello outlining Mila’s decline, the FDA made a concession: Mila could get the drug after just 1 month of testing, so long as the rat studies continued to 3 months to understand any long-term toxicity.
  • Today, Mila continues to get injections of her drug approximately every 2 months. She used to have up to 30 seizures a day, each lasting more than a minute. Now, she only has a few a day, and they don’t last long,
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    "Sitting in freezer at Boston Children's Hospital is a drug you won't find anywhere else. It's called milasen, and the 18 g that the hospital custom-ordered nearly 2 years ago should last for decades. That's because milasen was designed to treat a single patient-a now 8-year-old girl named Mila Makovec. Milasen was built on decades of work on a class of drugs called antisense oligonucleotides. But after Boston Children's Hospital scientist Timothy Yu diagnosed Mila with a never-before-seen genetic mutation, he took only 10 months to go from idea to injection. It's a record-shattering sprint in the typical drug-development marathon, and an unprecedented degree of personalization for a chemical drug."
Dennis OConnor

PMLS 2019 WEST - Precision Medicine Leaders Summit - 0 views

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    "Building on the successes of our events in Philadelphia and Jersey City, we are excited to be back where it all began - San Diego.  Please join us for the most thought-provoking Precision Medicine event in the marketplace. Our speakers cover the panoply of leaders in the healthcare continuum, these include clinicians, industry experts, academics, regulators, payers, genetic counselors, bioinformaticians, and many more who are shaping the way Precision Medicine is implemented into healthcare systems on a global scale. Join us for panel discussions, keynotes, "Meet the Expert", roundtables, networking, exhibits, and opening reception to hear from thought leaders who are making the promise of Precision Medicine a reality. "
Dennis OConnor

RDMD - Be part of the solution for your rare disease - 0 views

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    ""Patients shouldn't be bystanders in drug development." - Onno Faber (Founder of RDMD) Four years ago, I started experiencing hearing loss in my left ear. Doctors prescribed me steroids, thinking it was an infection, but the deterioration did not slow down. After numerous failed treatments, a specialist finally ordered an MRI, whereupon he discovered a large tumor on my left hearing nerve. Months later, another tumor was discovered in my right hearing nerve, and another on my spine. I was diagnosed with a rare genetic disease called NF2 (Neurofibromatosis Type 2), a disease that affects only 1 in 30,000 people. It completely changed my perspective. All my life, I've been a technology entrepreneur, beginning with a tech company I started in high school. I'm now applying everything I've learned throughout my career to build RDMD, where we're helping to accelerate treatments for patients with rare disease. Our mission is ambitious, but I can't imagine working on anything more important than this. - Onno"
Dennis OConnor

Chasing My Cure: Dr. David Fajgenbaum Lessons from his Rare Disease and On Finding Cure... - 0 views

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    "David Fajgenbaum, MD, MBA, MSc, is the co-founder and Executive Director of the Castleman Disease Collaborative Network (CDCN) and one of the youngest individuals to be appointed to the faculty at Penn Medicine, where he is an Assistant Professor of Medicine in Translational Medicine & Human Genetics, Founding Director of the Center for Study & Treatment of Castleman & inflammatory Lymphadenopathies (CSTL). An NIH-funded physician-scientist, he has dedicated his life to discovering new treatments and cures for deadly disorders like idiopathic multicentric Castleman disease (iMCD), which he was diagnosed with during medical school. As common as ALS and more deadly than lymphoma, iMCD involves the immune system attacking and shutting down the body's vital organs such as the liver, kidneys, bone marrow, and heart. After spending months hospitalized in critical condition, having his last rites read, and having four deadly relapses, he is now in his longest remission ever thanks to a treatment that he identified in the lab."
Dennis OConnor

How One Woman Changed What Doctors Know About Heart Attacks - The New York Times - 0 views

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    "In 2009, Ms. Leon went to the WomenHeart Science and Leadership Symposium at the Mayo Clinic, where she met Dr. Sharonne N. Hayes, a professor of cardiovascular medicine at Mayo. At that time, the largest study on SCAD included 43 patients. "I walked up to Dr. Hayes and told her we had 70 people, and we wanted research," Ms. Leon recalled. "She was like, 'Wow.'" "Everything I learned about SCAD in my medical training was wrong," Dr. Hayes said. By 2010, with the help of Dr. Hayes, and subsequently SCAD Research Inc., an organization founded by Bob Alico, who lost his wife to SCAD, Dr. Hayes devised an innovative way to do research, using online networks of far-flung patients and analyzing genetic and clinical data. "We never imagined there would be 1,000 female patients in our virtual registry," Dr. Hayes said."
Dennis OConnor

Researchers Cast Doubt On Theory Of Coronavirus Lab Accident : Goats and Soda : NPR - 1 views

  • April 23, 2020
  • Virus researchers say there is virtually no chance that the new coronavirus was released as result of a laboratory accident in China or anywhere else.
  • after corresponding with 10 leading scientists who collect samples of viruses from animals in the wild, study virus genomes and understand how lab accidents can happen, NPR found that an accidental release would have required a remarkable series of coincidences and deviations from well-established experimental protocols.
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  • All of the evidence points to this not being a laboratory accident," says Jonna Mazet, a professor of epidemiology at the University of California, Davis and director of a global project to watch for emerging viruses called PREDICT.
  • all believe that the virus was transmitted between animals and humans in nature, as has happened in previous outbreaks — from Ebola to the Marburg virus — and with other known coronaviruses such as SARS and MERS.
  • Regardless, genetic analysis shows the virus began to spread sometime in the fall or winter of 2019, says Robert Garry, a microbiologist at Tulane University. Those same analyses refuted an earlier theory that the virus was genetically engineered in a laboratory.
  • the exact route from nature to people remains a mystery,
  • Rather than a laboratory misstep, researchers believe that this new coronavirus reached humans in the same way that other coronaviruses have: through "zoonotic spillover," or humans picking up pathogens from wildlife.
  • The CDC estimates that 6 out of 10 infectious diseases in people come from animals, including diseases caused by coronaviruses.
  • "As we change the landscape to suit our purposes, we come more and more into contact with viruses and other pathogens that we don't have much exposure to," says Dr. Brian Bird, associate director of the OneHealth Institute at UC Davis School of Veterinary Medicine and a former CDC scientist.
  • "Zoonotic transmission" or "zoonotic spillover" generally happens three ways: through excretion (feces that comes into contact with humans), slaughter (meat consumed by humans) and vector-borne (an animal biting a human). But even under these circumstances, the virus must then overcome barriers within the human body, defeating the immune system, to successfully replicate and transmit between humans themselves.
  • Despite the evidence, misinformation about the virus's origins continue to proliferate. For Daszak, who has worked on other outbreaks, the pattern is all too familiar: "Every time we get a new virus emerging, we have people that say, 'This could have come from a lab,' " he says.
  • "It's a real shame that the conspiracy theories can get to the level they've got with policymakers,"
  • The political heat has strained the very scientific collaborations meant to detect these viruses as they emerge, warns Jonna Mazet.
  • Daszak says the time for finger-pointing is over. "We have a bat virus in my neighborhood in New York killing people," he says. "Let's get real about this."
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    "April 23, 2020"
Dennis OConnor

Infographic Time: Age isn't Just a Number, it's Yours to Control! - Elite HRV - 1 views

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    Everyone ages at different rates. Our "true age" (also called "biological age") depends on how much inflammation we encounter in our lifestyle and environment, combining with our genetics. True age represents our capacity for resilience, in tolerating and recovering from these life stresses. By increasing this resilience, we could even get younger in true age! It requires frequent tracking of biomarkers like heart rate variability (HRV).
Dennis OConnor

(4) Can Precision Health Transform Primary Care? Look to Stanford's Humanwide Pilot. | ... - 0 views

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    "For each patient, the Humanwide care team carefully documented factors that we know influence health, but which often aren't incorporated into primary care today, including stress levels, sleep habits, and environmental exposures. Patients also received genetic screenings and pharmacogenomic testing (which looks at a patient's genes to predict how they will react to a variety of medicines). In addition, each patient was given four digital health devices-a pedometer, a digital scale, a blood pressure cuff, and a glucometer to measure blood sugar-to track and measure their health and progress throughout their daily lives. All of this data was fed into patients' electronic health records and discussed at regular check-ins with their physicians."
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