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Can genetic testing shed light on your risk for cardiovascular disease? A Baylor College of Medicine cardiologist will address this question and more at an upcoming Evenings with Genetics virtual seminar on Tuesday, Dec. 14, at 7 p.m.

During the hourlong webinar, Dr. Christie Ballantyne, professor of medicine and section chief of cardiology and cardiovascular research at Baylor, will lead a discussion on precision medicine and heart disease. He will cover topics like what genetic tests are available, who should consider genetic testing and how these tests are helpful in assessing risk for heart disease.

Cardiovascular disease, the most common cause of death for both men and women in the United States, has a very important genetic component, said Ballantyne, director of the Center for Cardiometabolic Disease Prevention at Baylor. If you have a family history, it is very helpful to know which tests you should get and also what you should do to reduce your risk from cardiovascular disease.

Evenings with Genetics is a regular speaker series hosted by Baylor College of Medicine and Texas Childrens Hospital that offers the most current information on care and research advances for many genetic conditions.

The program is free and open to the public, but registration is required. A Zoom link will be sent to all registered participants the day before the seminar. For more information, call 713-798-8407 or visit the event registration page.

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Evenings with Genetics addresses genetic testing and heart disease - Baylor College of Medicine News

Developers of individualized investigational antisense oligonucleotide (ASO) therapies for ultra-rare diseases received additional guidance from the US Food and Drug Administration (FDA). In two draft documents, the agency has provided new information for sponsor-investigators and for those overseeing manufacture of these so-called N of 1 therapies for people with severely debilitating or life-threatening genetic disease."Progress in individualized medicines provides hope to patients with severely debilitating or life-threatening genetic diseases, said acting FDA commissioner Janet Woodcock in a press release accompanying the new draft guidances. Advances in technology enable targeting a drug to an individual patient's genes. Single-subject clinical trialsalso called 'N of 1' trialsfocus on evaluating investigational drug products developed for an individual patient.Woodcock continued, This field is rapidly evolving, and antisense oligonucleotide drugs are the most advanced in this space. However, many N of 1 trials are carried out by academic investigators who may not have much experience interacting with the FDA. Earlier this year, the FDA took initial steps to provide draft guidance to investigators carrying out this critical work. Today, we are issuing additional draft guidance in this area. Once finalized, this guidance will detail important clinical and production considerations to support applications for these types of clinical trials and drug development programs.The newly released draft guidances complement a January 2021 draft guidance covering administrative and procedural considerations for ASO developers and an April document that focuses on nonclinical testing of the therapies. (RELATED: 'N of 1' therapies addressed in draft FDA guidance, Regulatory Focus 5 January 2021)Woodcock and Peter Marks, head of FDAs biologics center, addressed some of the ethical and practical issues that arise in regulating these hyper-specialized therapies in a 2019 New England Journal of Medicine editorial. On a larger scale, we need to consider how such truncated programs fit into the spectrum of drug development in general: what are the differences between treating one, ten, or thousands of patients? asked the regulators in the editorial.Guidance for clinical investigatorsThe draft guidance for clinical investigators covers a gamut of clinical considerations ranging from ethical and human subject considerations to recommendations for conducting diagnostic and genetic testing and determining dosing. The document also lays out suggested procedures for administration of the drug product and provides guidance on assessing both safety and clinical response to ASO therapy.In addition to obtaining informed consent for participants, sponsors should conduct genetic testing that ensures that the gene variant or variants intended to be the target of an ASO drug is the cause of the patients pathology, and that the variant is unique to that patient.Dosing considerations should build on experience with related ASO drug products; the starting dose should be expected to have a pharmacologic effect. These dose estimates may have to be calculated based on known interspecies differences; investigators should plan for a dose escalation strategy and monitor patients closely while cautiously increasing the dose. De-escalation in case of toxicity should be planned for.ASO administration should be conducted in an inpatient setting with special staffing and monitoring precautions taken when doses are administered intrathecally. The guidance specifies what routine safety assessments should be conducted, providing special considerations for ASOs that have phosphorothioate or mixed-phosphorothioate backbones, since these products can cause thrombocytopenia. This portion of the guidance also advises investigators to be on the lookout for such ASO-specific risks as off-target genetic effects, building on experience with other ASO products in the same chemical class and on bioinformatics analyses.Clinical response can be evaluated through a clearly defined program of clinical assessments that may include performance-based, clinician-reported, and patient- or caregiver-reported assessments. Biomarkers that are scientifically justified and relevant to the target disease may also be helpful in assessing response. In weighing whether to continue administering an ASO product, sponsors should weigh toxicity against any observed clinical benefits.CMC considerationsA second guidance document released on Tuesday lays out general considerations for chemistry, manufacturing and controls (CMC) in ASO drug development. These recommendations support first-in-human exposure for the individualized ASO drug products covered under this guidance and do not address regulatory considerations for continued, long-term administration of an individualized ASO drug product or other circumstances that fall outside of the N of 1 investigational sphere, according to the guidance.Although there are many aspects of the manufacturing process of an investigational ASO drug product that differ from traditional pharmaceutical products, FDA still expects that sponsor will provide enough CMC information in their investigational new drug (IND) application to ensure the proper identification, quality, purity, and strength of the investigational drug product. The draft guidance recommends a pre-IND meeting with FDA to talk through CMC plans for the ASO product.Another key regulatory consideration is that ASO drug products do not ordinarily move from phase 1 to 2 to 3 in their clinical development process. Accordingly, the manufacture of the first batch of an ASO drug product can confirm with the current good manufacturing practices (CGMP) expected at the phase 1 stage, but subsequent batches should comply with CGMP requirements for finished pharmaceuticals as laid out in 21 CFR 211.Taking these regulatory recommendations into account, the draft guidance on CMC for ASO drug products recommends that, when possible, the same batch of drug product used for the nonclinical studies be used for initial clinical investigations, to simplify quality assessments.It could also be the case that CMC information from other individualized ASO drug products could be incorporated by reference either to another IND or a drug master file, noted FDA in the draft guidance.As for other drug substances, sponsors of N of 1 ASO drug products should provide a description of the physical and chemical characteristics of the drug, including such ASO-specific information as the base moieties and backbone of the therapy. The submission should also include information about the general method for preparation, with a flow diagram and a clear description of process controls that ensure quality of the drug substance.In terms of characterization, the sequence determination should be included in the IND or provided as soon as possible in an amendment after providing a justification in the IND. Both ASO-related and nonrelated impurities should also be addressed in the characterization.The specification section of the IND should include the identity of the ASO drug substance achieved through a combination or two or more methods, such as sequencing and molecular weight determination; a strength assay; quantities of determined and unidentified impurities; microbiological testing; bacterial endotoxins, and other items.The guidance also reviews how to address other required CMC data for individualized ASO drug products, giving advice about how to assess stability when extended storage conditions might be necessary.If a sponsor is considering developing a targeted treatment that could treat more than a few patients, then the suite of guidances that FDA has issued addressing ASO therapies in N of 1 trials would not apply. FDA recommends that sponsors of individualized ASO drug product INDs provide a claim for categorical exclusion from environmental analysis requirements.The FDA is hopeful these draft guidances, once finalized, will help promising drugs reach patients in a timely manner. We are optimistic that the development of these individualized drug products may continue to change the landscape for treating rare diseases, and the FDA is committed to providing resources and guidance to those advancing these technologies to treat patients in need," said Woodcock.Clinical guidance for ASO drug products

CMC considerations

2021Regulatory Affairs Professionals Society.

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FDA rolls out more guidance on 'N of 1' gene therapies - Regulatory Focus

Harnessing the bodys immune system to treat cancer has made remarkable cures possiblebut not for every patient. Now, researchers from UConn Health and the Cleveland Clinic have designed a way to reliably predict who will get good results from immunotherapy, they report in the Journal of Experimental Medicine.

Melanoma, a type of skin cancer, is often deadly once it spreads beyond its original spot. But immunotherapy drugs such as Keytruda have made dramatic cures possible, even for patients whose cancer has spread. About a third see their cancers stop growing or shrink, and 10% have complete remission. The flip side is that two-thirds of patients get no benefit at all.

These immunotherapies are not really as effective as they seem in the advertisements by drug companies, says UConn School of Medicine immunologist Beiyan Zhou. And the treatments take time. It can take at least two to four months, and as long as a year, to tell if a patients cancer responds to a specific immunotherapy. And if it doesnt, thats four months to a year of additional time to metastasize, when the patient could have been pursuing a different treatment entirely.

Zhou has been working with doctors at the Cleveland Clinic to figure out who will benefit from a specific immunotherapy before they spend time and money on it.

Our study highlights a population of cells that not only is associated with immunotherapy resistance, but its intrinsic genetic signals can be leveraged to identify who will or will not respond to their emerging cancer therapeutics. Collaborative efforts of clinicians, immunologists and bioinformaticians yield these exciting discoveries, says Brian Gastman, a collaborator on the project and the Director of Melanoma & High Risk Skin Cancer Program at Cleveland Clinic.

Gastman had been taking skin cancer samples and blood samples from patients and performing single cell profiling with them. These data were then analyzed at Zhous lab at UConn Health, first using conventional methods to take a lone cell and profile which genes in the cell are active.

Most cancer drug prediction tools rely on genetic analysis of specific mutations. If those mutations are present in the cancer, the tool will predict a certain drug will be effective. But these predictions are often inaccurate. Sometimes the gene with the mutation in question isnt active or doesnt matter to that particular cancer.

Unlike genetic analysis, single cell analysis tell us which genes a cell is actually using. Drugs that target active genes should be more effective than those targeting inactive ones.

Zhou and colleagues at UConn created a tool that used both computational and biomedical models on single cell data to predict whether or not a specific patient would respond to immunotherapy. After identifying a signature gene panel using a new strategy developed in Zhous lab, a predictive model was trained using a published single cell dataset (from Broad Institute of MIT and Harvard), and then tested in additional data from the Cleveland Clinics patient data. The tool, named NiCir (non-invasive circulating T cells model), focuses on the activity of 20 specific genes known to be important in melanoma skin cancer and lung cancer. NiCir achieved 88% accuracy in three different datasets predicting which patients cancers had shrunken in response to a specific immuno-checkpoint inhibitor immunotherapy.

The team is now working on creating an new computational program which will allow the creation of more accurate tools for disease prediction, and to facilitate guided-drug discovery.

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Which Patients Benefit Most from Immunotherapy? This Tool Can Tell - UConn Today - UConn Today

BETHESDA, Md., Dec. 7, 2021 /PRNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine (www.acmgfoundation.org) announced that it has received a commitment from Spark Therapeutics, Inc. to fund two fellowship training awards in ophthalmic genetics through its Next Generation Fellowship & Training Awards Program. This is the first time in its history that the ACMG Foundation will provide funding for training in this rapidly advancing area of specialty in medical genetics and genomics.

The ACMG Foundation's Next Generation Fellowship & Training Awards Program has worked to address a shortage of medical genetics experts needed to diagnose and treat patients with genetic disorders. To date, the program has funded a total of 60 years of study in genetic and genomic medicine to highly qualified medical students. The partnership between the ACMG Foundation and Spark Therapeutics will help foster medical genetics and genomics expertise for physicians seeking to specialize in the evaluation, diagnosis, and management of genetic eye disease.

"I am delighted to announce the generous gift from Spark Therapeutics, Inc. to fund two fellowship positions in ophthalmic genetics with an emphasis on inherited retinal diseases," said Max Muenke, MD, FACMG, CEO of the American College of Genetics and Genomics. "Healthcare professionals experienced in ophthalmic genetics have been at the forefront of helping individuals and families affected with inherited eye diseases. Recent successes in discovering genetic variants and conditions known to contribute to eye disorders and developing and delivering gene therapies for specific eye conditions have the potential of not just managing but laying a foundation towards curing these disorders. With the continually evolving advances in genetics and genomics, we need many more ophthalmologists trained in managing hereditary eye diseases and utilizing these novel treatment modalities."

"As we work together to advance novel treatment options for people and families affected by genetic diseases, it is increasingly important that we continue to build on our foundation and understanding of genetics across the healthcare community," said Bartholomew Tortella, MD, FACS, FCCM, and head of medical affairs, Spark Therapeutics. "Diagnosing and treating inherited eye diseases is complex, and programs such as the ACMG Foundation fellowship focused on ophthalmic genetics are a step forward in supporting patient communities."

Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation said, "A remarkably high proportion of retinal disorders have a genetic basis. Training specialists who are able to use the powerful approaches of genetic and genomic medicine in this area not only will benefit patients with genetic eye disorders but serves as a model for the integration of genetics and genomics across all of medicine."

The ACMG Foundation has stated it is eager to also work with other specialties to ensure that pediatricians, oncologists, obstetricians and other specialties are able to add genetic studies to their years of schooling.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to "translate genes into health." Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics and sponsors important research. To learn more and support the ACMG Foundation mission to create "Better Health through Genetics" visit http://www.acmgfoundation.org.

Note to editors: To arrange interviews with experts in medical genetics, contact ACMG Senior Director of Communications and Public Relations, Kathy Moran, MBA at [emailprotected].

CONTACTS:Kathy Moran, MBA[emailprotected]

SOURCE American College of Medical Genetics and Genomics

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ACMG Foundation Receives Gift from Spark Therapeutics for Ophthalmic Genetics Fellowships - PRNewswire

Doctors tell Joe Beard his only shot at survival is a two-organ, bone marrow transplant

ROCKTON This time of year almost everyone has a wish list.

Joe Beardof Rockton has a short but weighty list of needs.

The 40-year-old husband and father of twoneedsa new kidney, a new liver and a bone marrow transplant.

Without them, his chances of living long enoughto see his daughters graduate from high school get slimmer and slimmer each day.

In 2018, Beard was diagnosed witha rare genetic disorder of the immune system called STAT3 gain of function.

An article that appeared in theAmerican Journal of Respiratory and Critical Care Medicine the same year that Beard was diagnosed reported only 28 known cases.

"I have an autoimmune disease that's just running wild, attacking my organs, my body, everything," Beard said.

"Eventually, this is going to kill me. … I don't know if it is six months from now or two years from now, but it's not long."

Seated in the living room of his Rockton home with his wife, Hayley, and daughters Elsie, 6, and Molly, 4, Beard said it was six years ago when the disease first manifested.

"I wasn't feeling well," he said. "I started coughing and losing weight."

Over a three- to four-year period, Beard lost 50 pounds, a lot of weight for anyone of any stature, but even more so for someone who is5-foot-8 andinitially weighed 175 pounds.

At the outset, doctors suspected the fitness buffhad a lung infection and prescribed treatment for such, but the illness persisted.

Eventually, the couple sought care from an immunologist at the University of Wisconsin Hospital in Madison.

"On a whim, she decided to test for genetic diseases," Beard said, "andlow and behold one came back positive for STAT3 gain of function."

STAT3 GOF is a rare genetic disorder of the immune system. The disease is named after the gene, STAT3, and the effect caused by mutations in STAT3 gain of function, meaning the genes protein becomes overactive.

Stolen year:Rockford teen was living her best life when a rare disease attacked her brain

The Beards were referred to the National Institute of Health in Bethesda, Maryland, where the couple visited on a monthly basisfor nearly two years.

"They put me on these experimental drugs to try to control the inflammation," Beard said, "and it seemed to help, but my kidney function continued to decline."

Beard started dialysis about 2 1/2 years ago, about the same time his liver began to fail.

"So now, I am in end-stage renal disease, ESRD, and liver failure," he said."I essentially need a liver and kidney transplant," two vital organs that by themselves won't be enough to save Beard's life because, according to doctors,Beard's immune system will still continue to attack his body.

"So, they said, 'Really what we need to do is give you a new immune system, too,'" Beard said. "So that's where the bone marrow transplant comes in."

A double-organ transplant followed by a bone marrow transplant is a rare procedure, andmultiple hospitals declined to perform the surgeriesbefore theUniversity of Pittsburg Medical Center, one the country'sleading hospitals in performing organ transplants, accepted the case.

Beard was evaluated in January andinformed in March that he was not a candidate for a traditional cadaver-donor transplant because he neededtwo organs and lives more than 500 miles away from the hospital.

"But then they said, 'You could do living donors. If you can find someone to donate half their liver and then another person to donate a kidney and some bone marrow, we'll do it.'"

The Beards'excitement over the news was tempered by their insurance provider. Theywere told the combinations of procedures was "experimental" and would not be covered.

After seven months of filing appeals, submitting letters from doctors and threats of lawsuits, adoctor independent of the Beards and their insurance provider reviewed the case and determined thedouble-organ and bone marrow transplants wasBeard's best option.

"Based on that and per our current laws, they (the insurance provider) had to change their opinion to match the external reviewer," Beard said. "So, we got approved."

Hayley explained not one, but two donors are needed, one to provide the liver, the other to provide a kidney and bone marrow.

Kidney donation is the most common type of living-donor transplant. Individuals can donate one of their two kidneys, and the remaining kidney is able to perform the necessary functions.

As for liver donors, only a portion of the liver is removed and in a matter of months, the donor's liverwill regenerate and perform as normal.

"They'll take up 60 percent of your liver and within three months it will grow back up to 98 percent," Hayley said. "They just said it won't look the same."

Beard said his first choice for donors were his three siblings, all of whom were tested and were found to have the same genetic disorder, which was passed down to them from their father.

Of the four, Beard is the sickest.

"My full sister has no health problems whatsoever, and my other two half siblings have minor health problems, and my dad's been fine."

For the time being, Beard receives weekly infusions of donor antibodies and four days a week he undergoes home dialysis.

He described what is atbest a love-hate relationship with hisdialysis machine, a wonderful piece of technologythat removes waste from his blood and keeps him alive and its a ball and chain that zaps him of his energy and has to go with him when traveling.

"I feel like a bad father sometimes," he said, "because I can't play with my girls."

One of the joys of fatherhoodis teaching achild learn to ridea bike, an undertaking that Beard has had to relinquishto Hayley.

And yet, the dialysis machine has createda special bond betweenBeard and his girls.

Elsie is tasked with entering her father's blood pressure numbers from the dialysis machineinto an app on the family's iPad. Molly pushesthe save button before the information is forwarded to the DaVita Roxbury Dialysis Center wherea dialysis nurse remotely monitor's Beard's health.

More: Generations at Neighbors opens new dialysis unit

Because of his compromised immune system, Beard doesn't stray far away from home other than to go to work at Taylor Co., a Rockton-based manufacturer of commercial food service equipment.

Beard,an electrical engineer, called the company's management team "gracious" and "very accommodating" as they haveprovided him with his own office and allowhim to work from home as his health dictates.

"People ask me, 'How can you still work? I don't know. I guess I'm just trying to keep things as normal as possible and to provide for, you know, the kids and my wife.

"I told my boss, 'This is a good release for me because it makes me forget about things. For a moment, I'm normal.'"

The Beards said it is their faith that holds them up each day and are blessedto have the support of family and friends who pitch in on a moments notice to care for their daughters when needed.

Still, the family is concerned about two looming deadlines.

The first is Jan. 1 when Taylor Co. changes its insurance provider. TheBeards fear they may have to endure another lengthy and contentious processto convince the new insurer to cover thesurgeries.

The other deadline is more murkyand more daunting.

"They want to do the transplants as soon as possible because, you know, I am declining every day. And there's going to come a point when I'll become too ill to receive a transplant. So, they want to do this while I'm still healthy and have enough energy to get through the surgeries."

Chris Green: cgreen@rrstar.com; @chrisfgreen

Register to be a potential donor atlivingdonorreg.upmc.com. TypeJoseph Beard in the Donation to spot.

To help the family with travel and expenses, donations can be sent to:

Roscoe United Methodist Church

C/O Joseph Beard Transplant Fund

10816 Main St.,

Roscoe, IL 61073

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'This is going to kill me': Rockton man with rare genetic disorder in need of 2 live donors - Rockford Register Star

ATLANTA, Dec. 9, 2021 /PRNewswire/ -- Atlanta- and New York-based Moss & Gilmore LLP announced today the settlement with the U.S. Department of Justice ("DOJ") and State of Georgia of a False Claims Act ("FCA") lawsuit against Defendants Jeffrey M. Gallups, M.D. ("Dr. Gallups"), Milton Hall Surgical Associates, LLC ("MHSA") and Entellus Medical, Inc. on behalf of its client, Dr. Myron Jones, an ear, nose and throat doctor and a board certified otolaryngologist. Dr. Jones is a former Army Colonel and Active Duty U.S. Army Otolaryngologist who has been practicing medicine for over thirty four years and who was employed by MHSA from 2015 to 2017.

Defendant Georgia-based Milton Hall's ENT Institute website (http://www.entinstitute.com), provides that "The Ear, Nose & Throat Institute provides exceptional treatment and care for ear, nose and throat disorders including balloon sinuplasty, allergy treatments, sleep apnea and snoring treatment, hearing aids, voice therapy, tonsils and adenoids. Milton Hall serves the Atlanta, GA area with 13 locations in Gainesville, Dawsonville, Cumming, Lawrenceville, Suwanee, Alpharetta, Marietta (East Cobb), Buckhead (Atlanta), Windy Hill (Atlanta), Stockbridge, Peachtree City, and White Oak (Newnan) Georgia."

According to the Department of Justice website and Settlement Agreement, MHSA and Dr. Gallops, while not acknowledging wrongdoing, will pay to DOJ $3,068,434 ("Settlement Amount") to resolve allegations in the lawsuit that it knowingly violated the FCA and the Georgia False Medicaid Claims Act for, among other things, the following:

First, between 2015 and 2017, Dr. Gallups caused MHSA and/or MHSA's physician employees to order medically unnecessary genetic and toxicology tests from Next Health, LLC ("Next Health") for their patients and, in return for these referrals, Dr. Gallups was paid illegal remuneration in the form of a percentage of the revenues that Next Health received from Medicare, Medicaid and TRICARE.

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Second, between 2014 and 2018, Dr. Gallups caused MHSA and/or MHSA's physician employees to order various products associated with balloon sinuplasty surgery from Entellus Medical, Inc., which was acquired by the Stryker Corporation (NYSE:SYK) in 2018 (collectively "Entellus"), and Entellus offered and provided Dr. Gallups and MHSA with various forms of illegal remuneration which included, but was not limited to, trips meals, and monetary payments in order to induce Dr. Gallups to order MHSA physicians and employees to: (1) increase the number of sinuplasty surgeries that they performed; and (2) perform medically unnecessary balloon sinuplasty surgeries. In return for the illegal remuneration from Entellus, Dr. Gallups insisted that MHSA employees and physicians order various products from Entellus and instructed MHSA physicians and employees to exclusively use Entellus products.

As part of the lawsuit, Entellus also agreed to settle these allegations against itself, while also not acknowledging wrongdoing, and to pay to DOJ $1,2000,000.

With respect to the allegations concerning Next Health, LLC, on October 21, 2021, before the U.S. District Court for the Northern District of Georgia, Dr. Gallups pleaded guilty to health care fraud in case number 1:21-cr-00370. Dr. Gallup's sentencing in this criminal action is currently scheduled for February 11, 2022.

In the event that Dr. Gallups and/or MHSA fails to pay the entire Settlement Amount within twelve months of the execution of the November 30, 2021 Settlement Agreement, a Consent Judgment wherein Dr. Gallups and MHSA acknowledge their joint and several liability and debt owed to DOJ in the amount of $5,388,863, plus post-judgment interest, will be enforced by DOJ.

DOJ's press release can be found at https://www.justice.gov/usao-ndga/pr/dr-jeffrey-m-gallups-and-entellus-medical-agree-pay-42-million-resolve-false-claims-act.

The whistleblower physician, who was awarded 20% of all payments to be received under each of the Settlement Agreements by DOJ, was represented by Raymond L. Moss at Moss & Gilmore LLP, who initially brought this FCA action on behalf of the whistleblower, the U.S. Government and the State of Georgia against the Defendants in 2017.

"The whistleblower, Dr. Myron Jones, a decorated former Army Colonel, bravely and tenaciously brought what he believed to be very troubling practices to light as described in his lawsuit in order to seek to protect vulnerable patients and stop government fraud and abuse and illegal kick-back arrangements, which undermine quality and affordable healthcare", said Raymond Moss.

The case, brought in the United States District Court for the Northern District of Georgia, is captioned, United States ex rel. Myron Jones, M.D., et al. v. Milton Hall Surgical Associates, LLC d/b/a The ENT Institute and a/k/a Ear, Nose & Throat Institute, Jeffrey M. Gallups, M.D., Entellus Medical, Inc. et al., Civil Action. No. 1:17-cv-2472.

The Government investigation and settlement of these allegations were handled and settled by the United States Attorney's Office in the Northern District of Georgia through Assistant United States Attorneys Paris Wynn and Georgia Assistant Attorney General James Mooney in the Medicaid Fraud Division. The Department of Health and Human Services ("HHS") for the Inspector General also participated in the investigation. The criminal case was handled and resolved by Assistant U.S. Attorney Chris Huber.

The False Claims Act fosters a private-public partnership to fight fraud against the government. The law encourages whistleblowers to file civil lawsuits against companies that are defrauding the government by offering job protection against retaliation and a reward of 15 to 30 percent of the government's civil recovery if the government joins or intervenes in the case. Under the False Claims Act, the United States may recover three times the number of losses, plus civil penalties.

About Moss & Gilmore LLP: With offices in Atlanta and New York, Moss & Gilmore LLP represents whistleblowers in the U.S. and worldwide in federal and state false claim whistleblower and related retaliation cases involving healthcare fraud and military procurement fraud. Moss & Gilmore LLP represents whistleblowers in cases under the False Claims Act and claims under the U.S. Securities and Exchange Commission, Commodity Futures Trading Commission involving securities and commodities fraud and IRS whistleblower reward programs. For more information, visit http://www.mossgilmorelaw.com.

CONTACT Raymond MossMoss & Gilmore LLP(678) 381-8601rlmoss@mossgilmorelaw.com

Cision

View original content:https://www.prnewswire.com/news-releases/ent-practice-milton-hall-surgical-associates-llc-jeffrey-m-gallups-md-and-entellus-medical-inc-agree-to-pay-4-200-000-to-settle-whistleblower-allegations-of-medically-unnecessary-genetic-and-toxicology-testing-and-for-cer-301440776.html

SOURCE Moss & Gilmore LLP

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ENT Practice Milton Hall Surgical Associates, LLC, Jeffrey M. Gallups, M.D. and Entellus Medical, Inc. Agree to Pay $4,200,000 to Settle Whistleblower...

The post-mortem examination of Medina Spirit by the California Horse Racing Board will likely take at least two months to complete, the board said in a statement to Horse Racing Nation on Thursday.

"In the case of sudden deaths, with the toxicology and outsourcing of some samples for analysis, two months to conclude is a reasonable timeline," the CHRB said.

To buttress the necropsy, the researchers hope to determine whether Medina Spirit had specific genetic factors putting him at risk for sudden cardiac death, the University of Minnesota said in a statement.

The samples from Medina Spirit sent to the university's College of Veterinary Medicine will also be incorporated into an ongoing research project to understand genetic and other risk factors for sudden cardiac death in racehorses.

Medina Spirits death is devastating, and sadly, such deaths occur all too frequently, said Dr. Molly McCue, a professor for the University of Minnesotas College of Veterinary Medicine who has been studying genetic disease in horses for two decades. Our hope is to find ways to pinpoint horses at risk so we can intervene before they lose their lives. In addition to helping equine athletes, this research may also provide answers for sudden cardiac death in young human athletes.

Also, in July 2020, the CHRB began a Postmortem Examination Review program of all fatalities in the state focused on education and prevention of catastrophic injuries. Trainer participation is mandatory in these reviews, which is conducted by an official CHRB veterinarian, a member of the board of stewards, a safety steward and CHRB equine medical director Dr. Jeff Blea.

Owned by Zedan Racing, Medina Spirit compiled a record of 10: 5-4-1 and banked $3,545,200 during two years on the track.

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Medina Spirit necropsy will take around 2 months to complete - Horse Racing Nation

Rapid advances in biomarker research improve outcomes for people with cancer. National Comprehensive Cancer Network Patient Advocacy Summit looks at policy and practice solutions to increase equitable access for all.

PLYMOUTH MEETING, Pa., Dec. 7, 2021 /PRNewswire/ -- Today, the National Comprehensive Cancer Network (NCCN) hosted its annual Patient Advocacy Summit. The 2021 online program included a recorded presentation from Congresswoman Debbie Wasserman Schultz (D-FL)one of the bipartisan sponsors of the Reducing Hereditary Cancer Act of 2021 (HR 4110). The summit highlighted diverse perspectives for expanding precision medicine in order to improve cancer outcomes; including discussions on federal and local policies to broaden genetic/genomic testing access.

NCCN Logo (C)NCCN(R) 2018. All rights reserved.

"Our understanding of precision medicine and how to equitably use biomarker testing is changing rapidly day-to-day," said panelist Crystal S. Denlinger, MD, FACP, Senior Vice President, Chief Scientific Officer, NCCN. "Given the ever-changing landscape of biomarkers, it can be hard to remain current on indications, terminology, appropriate testing technology, and coverage. The NCCN Biomarkers Compendium is one resource to help us standardize access to expert-recommended testing and targeted treatment, but more work and awareness is needed to harness this evolving science in the most beneficial ways."

The group of speakers also included patients, advocates, additional doctors, and payers. They stressed the importance of performing testing for biomarkers that can inform and improve patient outcomes, but acknowledged the various challenges faced around how to make sure that happens.

"Genetic and/or tumor biomarker testing are integral components of precision medicine, informing cancer treatment, screening, and risk-reducing interventions," said Lisa Schlager, Vice President, Public Policy, Facing Our Risk of Cancer Empowered (FORCE). "Access to guideline-recommended testing can lead to better quality of life and outcomes for patients. We must institute public policies that facilitate equal, affordable access to these tests regardless of one's age, health insurance, or socioeconomic status; this will ultimately reduce health disparities and save lives."

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"Access to cancer diagnostics always has a technical limitationis the testing available to anyonebut also a social limitationis the testing available to everyone," said Dan Milner, MD, MSc, MBA, American Society of Clinical Pathology. "The challenge of biomarkers for patients today is not availability but rather reliable systemic access and consistent workflow. We can solve this through coordination, collaboration, and placing the patient at the center of the process."

Speakers also acknowledged a significant need for education of multiple stakeholders around biomarkers so physicians can make the best possible recommendations and patients are better able to advocate for themselves.

"The lack of education and awareness among patients is one of biggest challenges for precision-based medicine," said Wenora Johnson, Patient Advocate. "One way to empower them is to ensure that patients understand their individual genetic information, with the help of genetic counselors. This allows patients and caregivers to make informed decisions regarding their healthcare and any related problems. Universally-accepted policies for sharing treatment and outcomes data will lead to better patient outcomes."

Mary Lou Smith, JD, MBA, Research Advocacy Network, agreed: "Genomic testing can provide valuable information for shared decision-making; but both patients and their treating physicians often have a hard time understanding the reports showing the results. We need clearer, more understandable ways of reporting the results from genomic testing in order to determine the most effective treatment option for patients."

Another recurring theme from the summit was the acknowledgement that the role of precision medicine in cancer care will continue to grow. Speakers were concerned that this progress could widen disparities in outcomes by leaving out too many patients.

"Biomarker testing is currently a fundamental step in the evaluation of patients with most cancers, in order to determine the best therapies available as well as clinical trial eligibility," said Debora S. Bruno, MD, MS, Case Comprehensive Cancer Center, Member of the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) Panel for Non-Small Cell Lung Cancer. "However, recent studies have demonstrated that many patients in the U.S. with advanced/metastatic cancers are not comprehensively tested and that racial disparities exist when it comes to this basic assessment. As science evolves and cancer treatments become more effective, we are creating disparities that need urgent attention so all segments of society have access to these innovative therapies."

"In the last decade, there has been an explosion of new therapies in oncology which offer the promise of better outcomes," concluded Bhuvana Sagar, MD, MBA, Evernorth. "It is critical that people diagnosed with cancer are tested to determine if they can benefit from these new treatments. By improving access to testing and using the test results to guide therapies, we can improve long-term outcomes for cancer patients."

Additional speakers included:

State Representative Mary E. Flowers (D-IL), House Deputy Majority Leader, Illinois General Assembly

Hilary Gee Goeckner, MSW, American Cancer Society Cancer Action Network

Louis Jacques, MD, ADVI Health, LLC

Terrell Johnson, MPA, NCCN

Kristen Santiago, MS, LUNGevity Foundation

James Warburton, Novartis Oncology

The program also featured resource presentations from:

Monica Bryant, JD, Triage Cancer

Peggy Cottrell, MS, CGC, Sharsheret

Nikki Martin, MA, LUNGevity

Cassadie Moravek, Pancreatic Cancer Action Network (PanCAN)

More information on these resources to help improve access to precision medicine for the cancer community can be found at NCCN.org/summits. Join the conversation with the hashtag #NCCNPolicy.

Register now! The NCCN 2022 Annual Conference will take place as a "hybrid" event, with live sessions in Orlando, FL, and a virtual platform, March 31 - April 1. Pre-conference programs begin March 30. Visit NCCN.org/conference for more information and to register.

About the National Comprehensive Cancer NetworkThe National Comprehensive Cancer Network (NCCN) is a not-for-profit alliance of leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, equitable, and accessible cancer care so all patients can live better lives. The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) provide transparent, evidence-based, expert consensus recommendations for cancer treatment, prevention, and supportive services; they are the recognized standard for clinical direction and policy in cancer management and the most thorough and frequently-updated clinical practice guidelines available in any area of medicine. The NCCN Guidelines for Patients provide expert cancer treatment information to inform and empower patients and caregivers, through support from the NCCN Foundation. NCCN also advances continuing education, global initiatives, policy, and research collaboration and publication in oncology. Visit NCCN.org for more information and follow NCCN on Facebook @NCCNorg, Instagram @NCCNorg, and Twitter @NCCN.

Media Contact: Rachel Darwin267-622-6624darwin@nccn.org

Cision

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SOURCE National Comprehensive Cancer Network

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NCCN Summit Explores How to Better Deliver on the Promise of Precision Medicine for People with Cancer - Yahoo Finance

With the emergence of genetic sequencing, advances in diagnostics and wearable devices, there has been a swell of excitement around precision medicine or customised healthcare. The story in itself has fuelled a billion dollar market for public consumption. However, the industry is outpacing the science, and as yet, it is not so straight forward.

I have compiled a list of some of the key areas and advances in personalised medicine, which we will see come in to focus over the next few years:

1. Hormones: Such as oestrogen, progesterone, testosterone and thyroid, to name but a few. As physicians, we have been fortunate enough to tailor the needs to the individual, depending on the patients blood results and their symptoms. Although this is not new, treatments can vary, based on conventional wisdom, body-identical, bio-identical and natural supplements. It can be difficult for patients to navigate, as some practitioners have become more like alchemists, trialing different treatments (by their very nature it is not always evidence-based). For more detail please read my articles on correcting hormonal imbalance.

2. Cancer risk and diagnosis: Home DNA genetic test-kits have made checking for inheritable diseases widely available, but with some controversy (I have elaborated on this in my other article). They have also discovered new techniques for identifying cancer cell DNA markers in the blood, also known as liquid biopsies. This could potentially pick up of over 50 early stage cancers. Current trials are underway in the US and UK, which could lead to a paradigm shift in early-cancer detection for individuals, the likes of which we have not seen for over 30 years. Using polygenic risk scores (different combinations of genetic variance for a particular disease), multiple data points can be stacked for each individual (i.e. demographics/family history etc) and offer greater diagnostic precision.

See the article here:
Is 'personalised medicine' the future of healthcare? - Tatler

Reports of sporadic resistance to modern malaria drugs have begun appearing in recent years, and are now confirmed in Rwanda and Uganda. The Conversation Africas Ina Skosana asked infectious diseases experts Deus Ishengoma and Fredros Okumu to explain this development and what the implications are.

Resistance occurs when the effectiveness of a drug is reduced and it no longer provides a full cure against the targeted infection. It usually starts with only a few mutated parasites that survive treatments in an area. But it can spread rapidly because these resistant parasites continue to reproduce, while the susceptible ones are killed by the treatments.

For example, chloroquine was once considered to be the magic bullet against malaria. But malaria parasites evolved to survive it. The resistance spread in the 1980s and 1990s. It took more than 20 years of gradual failure before African governments and the World Health Organisation (WHO) agreed to change the guidelines and stop using chloroquine.

One reason for this was that the alternative medicines, notably artemisinin combination therapy (ACTs), were way too expensive and out of reach for most patients in the low-income countries

The other alternative drug at the time, sulfadoxine-pyrimethamine, was also showing signs of failure.

The methods for diagnosing malaria were less accurate and not always available back then. So children with fever were commonly treated as if they had malaria. This situation required a low-cost and widely available medicine, even if imperfect.

An even bigger problem was the lack of real-time data on the extent, impact and magnitude of drug resistance. The delayed appreciation of drug resistance caused an unnecessarily large number of severe malaria cases and preventable deaths across Africa in the late 1990s and early 2000s.

The WHO then recommended the use of artemisinin combination therapy (ACTs). These are cocktails, in which the most important ingredients are derivatives of artemisinin, a plant extract first synthesized in 1972 by the Chinese chemist, Tu Youyou, who later won the Nobel Prize in Physiology and Medicine in 2015. Because the ACTs are mixtures, it is difficult for malaria parasites to resist them.

Soon after the introduction of ACTs, reports of resistance to artemisinins started to emerge. These were initially in south-east Asia.

Since 2006, the WHO has been advising countries not to use single drugs (especially any artemisinin drug on its own). Instead, countries should use mostly combination therapies.

Unfortunately, for management of severe malaria, there are still no alternatives, so the recommended options still consist of only one active ingredient instead of mixtures. Examples are artesunate injections or the rectal artesunate capsules recommended for low income remote settings to buy families time and save lives of babies before reaching appropriate care.

These single drug options are the ones most threatened by the emerging resistance to front-line treatments for severe malaria in Africa. Moreover, new evidence now suggests that rectal artesunate capsules may actually not reduce malaria deaths unless the underlying health systems are sufficiently strong. Therefore, new options are even more urgently required here.

In Africa, most malaria-infected people who receive treatment in good time are fully cured and suffer no long-term effects. However, a minority can be unresponsive to standard treatments. Scientists and health practitioners are increasingly concerned that the situation may worsen in the years to come.

Professor Abdoulaye Djimde is the director of the Malaria Research and Training Centre at the University of Bamako in Mali. He was among the experts who first demonstrated (in 2001) how certain genetic changes in malaria parasites were linked to resistance against chloroquine. We recently asked him about the evidence for resistance to artemisinins in Africa. He thought deeply for moments before stating sadly that the lights are yellow. By this he meant that front-line drugs remain largely effective, but the likelihood of widespread failure is growing fast.

Efforts to develop new medicines have gained momentum, but no new drugs are expected in the market for at least several years.

The good news is that resistance to artemisinins has not spread widely in Africa. A recent review by a consortium of African scientists concluded that African malaria parasites already have the genetic changes potentially associated with resistance to artemisinins. But the frequency of these changes is still very low. Surveillance of these genetic elements must be ramped up and performance of drug treatments closely monitored.

It matters because of the scale of the potential problem. There are 241 million malaria cases resulting in 627,000 deaths annually even without widespread drug resistance in Africa, where nearly all these deaths occur.

First, we must recognise the urgency of this situation and develop a plan. In a recent conversation, Prof. Pedro Alonso, the director of the WHO Global Malaria Programme, reminded us that the drug resistance in Africa is emerging independently of the situation in south-east Asia, and we should not wait until complete failure emerges in Africa.

Prof. Alonso also recommended the following four measures.

Accelerate research and development for alternative medicines and other tools to control malaria.

Maintain healthy markets to attract more manufacturers to produce malaria medicines.

Continuously improve the quality of care for malaria patients and reduce the use of single medicines also known as monotherapies.

Enhance surveillance to track drug resistance within and across borders.

There are now low-cost rapid diagnostics for detecting malaria even in rural settings. There are also far better scientific methods for monitoring performance and safety of malaria medicines.

More importantly, molecular surveillance allows us to detect the resistance signals in circulating malaria parasites long before the medicines begin failing. This way, public health authorities and drug developers can stay ahead of the game, by adjusting treatment guidelines.

One example is a programme we recently established in Tanzania to track genetic changes in the circulating malaria parasites and how these parasites respond to current treatments.

Countries must endeavour to prevent as many cases as possible and limit the likelihood of severe malaria.

The WHO Malaria Policy Advisory Group has emphasised the need to intensify investigations into artemisinin resistance in Africa and urged the Global Malaria Programme to consider what to do if partner drugs become less effective.

Beyond this, we must learn from history and from recent trends. Most importantly, we all need a honest reflection of what it will really take to eliminate malaria. The overriding lesson is that problems such as resistance are merely symptoms of greater challenges. Medicines, insecticides and nets may deliver short-term anti-malaria goals. But sustainable progress towards elimination requires more holistic approaches.

More:
The warning lights are on for malaria medicines in Africa - The Conversation Africa