Category Archives: Genetic Medicine

A genetic test gives results in half an hour to show if a person may become deaf in response to certain antibiotics, so can be used for babies with suspected sepsis who need treatment fast

By Clare Wilson

A newborn baby in a hospital bed

Shutterstock / Sopotnicki

Occasionally children go deaf as a result of antibiotic treatment. Now a rapid test has been launched to identify those who are vulnerable to such ear damage, so that alternative antibiotics can be given.

The genetic test delivers a result in 26 minutes, meaning it can be done quickly enough to guide treatment in babies with suspected sepsis, who need treatment as fast as possible.

About one in 500 people have a genetic mutation that means that the antibiotic gentamicin kills cells inside their ear. This is thought to cause about 14,000 people worldwide to go permanently deaf each year.

Despite the rare effect, gentamicin is the recommended treatment for sepsis a life-threatening overreaction of the immune system to infection as it is effective against the bacteria most likely to be the cause.

People known to have the mutation can be treated with a different antibiotic called cephalosporin, which kills a broader range of bacteria. Because of this, cephalosporin is more prone to triggering antibiotic resistance, so it is not as commonly prescribed.

To check for the genetic mutation, most hospitals currently use PCR-based tests, which can take days to return results. Guidance for treating babies with suspected sepsis in hospitals in England says antibiotics should be started within one hour of doctors recognising that treatment is needed.

The new assay, which Manchester University hospitals will start using routinely from next week, is faster because it uses a different genetic testing technique, called RT-LAMP.

Made by UK firm Genedrive, the test was used in two UK hospitals on 751 babies who were a few days old and needed treatment for suspected sepsis. It identified three with the mutation that put them at risk of deafness, who all received the alternative antibiotic, according to a recently published trial. We have got three people that will go through life with their hearing intact that would have been deaf if they had not had this [test], says David Budd at Genedrive.

Genetic tests such as this one should be more widely used, according to a report out this week from the British Pharmacological Society and the Royal College of Physicians. It found there are 40 commonly used medicines where genetic tests could help guide treatment.

In future, babies could have a panel of such tests carried out when they are born, so there would be no waiting for results, says co-author Emma Magavernat Queen Mary University of London. It would affect [their treatment] for the rest of their life.

Journal reference: JAMA Pediatrics, DOI: 10.1001/jamapediatrics.2022.0187

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Genetic test for mutation that leads to antibiotic-induced deafness - New Scientist

Verve Therapeutics CEO SekarKathiresan, M.D./Courtesy Companyleaders.org

The United States healthcare system is notoriously complex. A survey from a self-funded health plan administrator concluded that 70% of 1,000 respondents found todays healthcare system difficult to navigate.

Under these circumstances, medical advocacy becomes necessary, especially when patients and families are suffering from little understood or even unknown conditions. Some rely on professional patient advocates as they muddle through the perplexing medical system.

Others, such as Doug Lindsay, take rare disease treatment into their own hands. As told in this CNN article, an unknown disease kept Lindsay bedridden for nearly 20 hours a day over the course of 11 years. No doctors or treatments were able to help him.

The mysterious ailment ran in Lindsays family, with his aunt and mother suffering similar symptoms. He used the information that his mothers condition was thought to be thyroid-related as a jumping-off point for his own intensive research.

After scrounging the web and tearing through textbooks, he learned that adrenal disorders can look similar to thyroid disorders, and was eventually able to hypothesize that a wide range of unknown autonomic nervous-system disorders exists.

Lindsay painstakingly traveled to the American Autonomic Societys annual conference in Hilton Head, South Carolina, purchasing an entire row of airline tickets so that he could lay across the seats with the help of friends. Dr. H. Cecil Coghlan was interested in the presentation Lindsay gave, finding that his theories had merit.

Over the course of years, Coghlan helped Lindsay repurpose drugs for treatment. He theorized that he may have an adrenal tumor that was causing increased adrenaline in his blood.

When the scans repeatedly came back negative, however, Lindsay went back to researching. He was able to suggest that something in his adrenal gland was mirroring the effects of a tumor. This information allowed Coghlan to diagnose him with bilateral adrenal medullary hyperplasia, a condition with a mere 32 recorded cases that was causing his enlarged medullas to function as tumors.

When Lindsay found no available surgeries for his condition, he resolved to create his own. Referring to records of successful adrenal medullectomies that were completed on rats, cats and dogs, he created an extensive proposal for the procedure to be done on the first human candidate: himself.

Ultimately, he was able to have both adrenal medullas extracted successfully. He gradually regained his strength, his ability to walk, and his life.

Today, Lindsay gives speeches and works as a personal medical consultant. When I got my health and it settled down, I went on vacation to the Bahamas. I saw the ocean for the first time," he quoted in a TEDx talk. "And then I went for a walk on the beach."

Another personal story of medical advocacy was shared with BioSpace by Sekar Kathiresan. When his brother unexpectedly died from a heart attack, he changed the course of his life to found a company with a novel medicine that may prevent them.

From the early 2000s, Kathiresan was practicing clinical cardiology and researching the genetic basis of heart attacks, particularly in the younger patient population. His research concluded that a particular series of genetic mutations could be increasing the risk of heart attacks.

In 2012, he suffered an immense personal tragedy. His older brother Senthil, a healthy 42-year-old with high cholesterol, came home from a run one day and collapsed. EMTs attempted to resuscitate him. He was rushed to the hospital, where they confirmed that he was in the midst of a heart attack. Senthil suffered from an anoxic brain injury and never woke up.

This was a dramatic and tragic outcome. For me, besides the grief myself and my family suffered, it made me redouble my commitment to this disease. My work shifted focus from purely trying to understand why some people have heart attacks at young ages, and moved into finding treatments, making sure that what happened to my brother doesnt happen to others, Kathiresan said.

The genetic research of Kathiresan and others had discovered eight genes with properties that were naturally resistant to heart attacks. Simultaneously, the gene editing field as a whole shifted when CRISPR/Cas9 was invented in 2012.

At the time, Kathiresan shared a lab floor with Feng Zhang. They worked together in an effort to gain a grant from the American Heart Association regarding a cure for heart disease. We came up with this idea of pairing the genetic discoveries that we made around resistance with gene editing. The idea was to develop a medicine that would mimic the natural resistance to heart attacks that some people carried.

Though they didnt win the grant, Kathiresan eventually built Verve Therapeutics around the idea. We are a biotech company developing gene medicine to treat cardiovascular disease. Our medicines intent is to permanently lower cholesterol after a single treatment, he said.

The companys lead candidate, VERVE-101, targets the PCSK9 gene. This is a gene that normally raises blood LDL cholesterol. We are looking to turn off the disease-causing gene permanently. There are humans walking around who have that naturally. They have lifelong low levels of LDL cholesterol. Were looking to mimic this.

The product showed promising preclinical results in monkeys. Blood levels of PCSK9 protein were reduced by 89%, and blood levels of LDL-C were reduced by 59%. They followed the monkeys for 18 months to determine the products durability. Its a life-long effect, said Kathiresan.

Up next, Verve hopes to introduce the medicine in a human population. We are guiding and anticipating the milestone of treating our first patients with this medicine in the second half of this year, he said. Theyve submitted their data package, with a series of studies to evaluate the efficacy and safety of the medicine in cells, mice and monkeys, to regulators in the U.S. and elsewhere. This will lead to clinical data in 2023, evaluating the safety and efficacy of the medicine in people.

Kathiresan is motivated by the clear understanding that if ones LDL cholesterol is low lifelong, its very hard to get a heart attack. This is the answer to heart attacks.

The Ryan Foundation was founded by another family who advocated for a medical solution. Mark and Jeanne Dants son Ryan has Mucopolysacharidosis (MPS 1). The almost always fatal rare genetic disorder is caused by a lack of enzymes needed to break down complex sugars, and can result in learning difficulties, skeletal abnormalities, carpal tunnel syndrome, vocal cord and tongue enlargement, vision loss and declines in intellectual function.

The Dants were told that their son wouldnt live past the age of ten. Not only was there no existing cure for MPS 1, but no one was even researching the rare disease. The family refused to accept this outcome, and kicked off their personal fundraising with a bake sale that made $342.

As their mission gradually gained awareness and funding, the Dants sought partnership with a researcher. They met Emil Kakkis, a UCLA scientist researching MPS 1, who had a theory that the disease could be treated with a synthetic form of the missing enzyme.

With funding from the Ryan Foundation, Kakkis and his team created ALDURAZYME. Ryan received the synthetic enzyme therapy in the first clinical trial, and is now the therapys longest treated person in the world.

Ryan made massive improvements through this and other treatments. In 2017, he graduated from the University of Louisville with a Bachelors Degree, having majored in Sports Administration.

Kakkis went on to found Ultragenyx, a company that brings novel therapies to rare genetic diseases. The Ryan Foundations website quotes that Ryan is continuing to work his plan for a positive tomorrow and once again has a full vocabulary...and a full life ahead of him.

Kathiresan said that medical advocacy is important because its all about solving problems. We are looking to solve the leading cause of death in the world: heart attacks. Men and women from nearly every country are affected. It remains the leading cause of death globally despite advances. To solve such a big challenge, you need advocacy from patients, family members, physicians and people providing healthcare. Overall, he reminds that making a drug that works requires a lot of advocacy.

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Medical Advocacy and Ingenuity of the Human Spirit is Curing Disease - BioSpace

Akouos, Inc.

- Advanced toward planned IND submissions for AK-OTOF in the first half of 2022 and AK-antiVEGF in 2022

- Presented data at ARO demonstrating potential of precision genetic medicine platform to address a broad range of inner ear conditions

- Expanded leadership team with appointment of otology leader Aaron Tward, M.D., Ph.D., as chief scientific officer

- Ended 2021 with a strong cash position of $232.5 million

BOSTON, March 29, 2022 (GLOBE NEWSWIRE) -- Akouos, Inc. (Nasdaq: AKUS), a precision genetic medicine company dedicated to developing potential gene therapies for individuals living with disabling hearing loss worldwide, today reports financial results for the fourth quarter and full year ended December 31, 2021 and provides business highlights.

In 2021, we continued to execute on our core strategic objectives, ended the year with a strong cash position, and remained focused on our IND submission plans for AK-OTOF in the first half of 2022 and for AK-antiVEGF in 2022. In addition to AK-OTOF and AK-antiVEGF, we continue to leverage our genetic medicine platform to expand our pipeline and address a broader range of inner ear conditions, including some of the most common forms of hearing loss, said Manny Simons, Ph.D., M.B.A., co-founder, president, and chief executive officer of Akouos. We recently presented nonclinical data at ARO that help support these future development plans, and we expanded our world-class team of experts with the appointment of renowned surgeon and scientist Aaron Tward, M.D., Ph.D., as our chief scientific officer. We believe the genetic medicines we are developing have the potential to create a new standard of care for, and to transform the lives of individuals and families with, disabling hearing loss.

Pipeline and Business Highlights

Continued progress toward IND submission readiness for lead programs AK-OTOF and AK-antiVEGF Akouos continued to advance its lead product candidate, AK-OTOF, a gene therapy intended for the treatment of otoferlin gene (OTOF)-mediated hearing loss and is on track to submit an investigational new drug (IND) application in the first half of 2022. Additionally, Akouos continues to plan for an IND submission in 2022 for AK-antiVEGF, a gene therapy candidate in preclinical development for the potential treatment of patients with vestibular schwannoma.

Applying genetic medicines platform to expand into broader range of inner ear conditions Akouos is leveraging its multimodal genetic medicine capabilities to address a broad range of inner ear conditions, including those that are monogenic and those of complex etiology. The company recently presented nonclinical data at the Association for Research in Otolaryngology (ARO) 45th Annual Mid-Winter Meeting that help support future development of gene therapies targeting inner ear conditions.

Two nonclinical studies in non-human primates evaluating protein expression and tolerability support future clinical development of AK-antiVEGF for the treatment of vestibular schwannoma.

AAVAnc80 with a supporting cell selective promoter drives widespread GJB2 expression in supporting cells, while limiting expression in, and loss of, hair cells in mice. We continue to evaluate the most promising product candidate options in mice and non-human primates.

In vitro characterization of AAV-mediated RNA interference gene silencing and CRISPR/Cas9 gene editing methods demonstrates a reduction of protein expression for the gene of interest. We continue to consider targets for autosomal dominant nonsyndromic hearing loss.

We also continue to believe that AAVAnc gene therapy has the potential to restore hearing in individuals with a wide range of environmental hearing loss by regenerating hair cells from neighboring supporting cells. We have identified multiple factors that, when delivered in combination, result in new hair cell formation in neonate mice, and we plan to continue preclinical development work in 2022.

Expanded leadership team with appointment of Aaron Tward, M.D., Ph.D., as chief scientific officer In March 2022, Akouos announced the appointment of surgeon and scientist Aaron Tward, M.D., Ph.D., as chief scientific officer. Dr. Tward brings deep experience in genetics, genomics, gene delivery, high-throughput sequencing technologies, and the clinical care of patients with conditions of the ear and skull base to Akouos. Dr. Tward was previously a member of the Akouos scientific advisory board since 2018. In his new role as chief scientific officer, he will lead the research team and provide strategic scientific expertise to advance the companys precision genetic medicine platform.

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Fourth Quarter and Full Year 2021 Financial Results

Cash Position Cash, cash equivalents, and marketable securities were $232.5 million as of December 31, 2021, as compared to $308.0 million as of December 31, 2020.

Research and Development (R&D) Expenses R&D expenses were $18.8 million for the fourth quarter of 2021 and $64.6 million for the full year ended December 31, 2021, compared to $8.0 million for the fourth quarter of 2020 and $34.3 million for the full year ended December 31, 2020. The increase was primarily due to the increased efforts in IND-enabling studies and increased manufacturing costs for AK-OTOF and AK-antiVEGF and the growth in the number of R&D employees and their related activities, as well as the expense allocated to R&D related to Akouoss leased facilities.

General and Administrative (G&A) Expenses G&A expenses were $6.2 million for the fourth quarter of 2021 and $22.2 million for the full year ended December 31, 2021, compared to $4.6 million for the fourth quarter of 2020 and $14.6 million for the full year ended December 31, 2020. The increase was due to the growth in the number of G&A employees and other administrative expenses related to operating as a public company, as well as the expense allocated to G&A related to Akouoss leased facilities and due to increased patent activities and increases in professional fees related to legal and accounting services.

Net Loss Net loss was $24.9 million, or $0.72 per share, for the fourth quarter of 2021 and $86.7 million, or $2.52 per share, for the full year ended December 31, 2021, compared to $12.5 million, or $0.37 per share, for the fourth quarter of 2020 and $48.6 million, or $2.77 per share, for the full year ended December 31, 2020.

About Akouos

Akouos is a precision genetic medicine company dedicated to developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for individuals living with disabling hearing loss worldwide. Leveraging its precision genetic medicine platform that incorporates a proprietary adeno-associated viral (AAV) vector library and a novel delivery approach, Akouos is focused on developing precision therapies for forms of sensorineural hearing loss. Headquartered in Boston, Akouos was founded in 2016 by leaders in the fields of neurotology, genetics, inner ear drug delivery, and AAV gene therapy.

Forward-Looking Statements

Statements in this press release about future expectations, plans and prospects, as well as any other statements regarding matters that are not historical facts, may constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. These statements include, but are not limited to, statements relating to the initiation, plans, and timing of our future clinical trials and our research and development programs, and the timing of our IND submissions for AK-OTOF and AK-antiVEGF. The words anticipate, believe, continue, could, estimate, expect, intend, may, plan, potential, predict, project, should, target, will, would, and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: our limited operating history; uncertainties inherent in the development of product candidates, including the initiation and completion of nonclinical studies and clinical trials; whether results from nonclinical studies will be predictive of results or success of clinical trials; the timing of and our ability to submit applications for, and obtain and maintain regulatory approvals for, our product candidates; our expectations regarding our regulatory strategy; our ability to fund our operating expenses and capital expenditure requirements with our cash, cash equivalents, and marketable securities; the potential advantages of our product candidates; the rate and degree of market acceptance and clinical utility of our product candidates; our estimates regarding the potential addressable patient population for our product candidates; our commercialization, marketing, and manufacturing capabilities and strategy; our ability to obtain and maintain intellectual property protection for our product candidates; our ability to identify additional products, product candidates, or technologies with significant commercial potential that are consistent with our commercial objectives; the impact of government laws and regulations and any changes in such laws and regulations; risks related to competitive programs; the potential that our internal manufacturing capabilities and/or external manufacturing supply may experience delays; the impact of the COVID-19 pandemic on our business, results of operations, and financial condition; our ability to maintain and establish collaborations or obtain additional funding; and other factors discussed in the Risk Factors included in the Companys Quarterly Report on Form 10-Q for the three months ended September 30, 2021 filed with the Securities and Exchange Commission on November 9, 2021, and in other filings that the Company makes with the Securities and Exchange Commission in the future. Any forward-looking statements contained in this press release speak only as of the date hereof, and the Company expressly disclaims any obligation to update any forward-looking statement, whether as a result of new information, future events or otherwise.

Condensed Consolidated Balance Sheet Data (Unaudited)

(in thousands)

December 31, 2021

December 31, 2020

Cash, cash equivalents and marketable securities

$

232,452

$

308,010

Total assets

278,755

333,350

Total liabilities

45,105

22,736

Total stockholders equity

233,650

310,614

Condensed Consolidated Statements of Operations and Comprehensive Loss(Unaudited)

(in thousands, except share and per share data)

Three Months Ended December 31,

Years Ended December 31,

2021

2020

2021

2020

Operating expenses:

Research and development

$

18,819

$

7,977

$

64,595

$

34,297

General and administrative

6,158

4,646

22,226

14,583

Total operating expenses

24,977

12,623

86,821

48,880

Loss from operations

(24,977

)

(12,623

)

(86,821

)

(48,880

)

Other income (expense):

Interest income

326

366

1,872

567

Other expense, net

(288

)

(291

)

(1,722

)

(287

)

Total other income, net

38

75

150

280

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Akouos Reports Fourth Quarter and Full Year 2021 Financial Results and Provides Business Highlights - Yahoo Finance

PHILADELPHIA--(BUSINESS WIRE)--Aro Biotherapeutics, a biotechnology company pioneering the development of tissue-targeted genetic medicines, today announced upcoming data presentations highlighting the therapeutic potential of its proprietary Centyrin oligonucleotide conjugate therapies. The presentations will take place at the 2022 European Laboratory Research & Innovation Group (ELRIG) Research & Innovation Conference, the 3rd Annual RNAi Based Therapeutics Summit, and TIDES USA.

In the upcoming presentations, Aro scientists will present new in vivo proof-of-concept data demonstrating advantages of its Centyrin oligonucleotide platform for achieving potent and specific inhibition of disease-causing mRNAs and proteins in selected disease relevant tissues. Furthermore, the presentations will highlight the modularity of the platform for tissue targeting of both siRNA and antisense oligonucleotides conjugated to receptor specific Centyrins. In addition, Aro will present original data on Centyrin-siRNA conjugates in animal models of Pompe disease, demonstrating that the platform holds great promise for addressing unmet needs in this rare disease population.

Our team looks forward to sharing the scientific data that validates the broad potential of Centyrin-oligonucleotide conjugates to address genetic diseases with high unmet medical needs, said Susan Dillon, Ph.D., co-founder and Chief Executive Officer of Aro Biotherapeutics. Aros drug discovery platform is designed to discover and optimize receptor-specific Centyrin-siRNA conjugates that achieve precise in vivo modulation of gene targets at the site of disease addressing one of the greatest challenges facing genetic medicines today.

Following are additional details about the conferences and presentations:

2022 ELRIG Research & Innovation ConferenceSession: Creating a New Class of Centyrin - Oligonucleotide TherapeuticsPresenter: Sukumar Sakamuri, Ph.D., Chief Technology OfficerDate: March 30, 2022

3rd Annual RNAi Based Therapeutics SummitSession: Creating a New Class of Receptor-Targeting Genetic MedicinePresenter: Zhanna Druzina, Ph.D., Senior Director, Protein EngineeringDate: April 19, 2022

TIDES USASession: Centyrin-targeted siRNA Conjugates Demonstrate Potential New Therapeutic Approach for Reduction of Skeletal Muscle Glycogen in Pompe DiseasePresenter: Karyn ONeil, Ph.D., Chief Scientific OfficerDate: May 11, 2022

About Aro Biotherapeutics

Based in Philadelphia, Aro Biotherapeutics is a biotechnology company pioneering the development of tissue-targeted genetic medicines with a platform based on a proprietary protein technology called Centyrins. The company is developing a wholly-owned pipeline of Centyrin-based therapeutic candidates and is working with industry partners to leverage Centyrins for tissue-specific targeting of therapeutics for a diverse set of diseases. For more information, visit http://www.arobiotx.com.

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Aro Biotherapeutics to Highlight Therapeutic Potential of Centyrin Oligonucleotide Conjugates at Upcoming Industry Conferences - Business Wire

Ring Therapeutics

First description of new, comprehensive anellovirus antibody analysis tool, AnelloScan

Cross-sectional study supports that anelloviruses are associated with weaker immune responses compared with other viruses

Longitudinal study shows transmitted anelloviruses tend not to elicit a strong antibody response

CAMBRIDGE, Mass., March 31, 2022 (GLOBE NEWSWIRE) -- Ring Therapeutics, a life sciences company founded by Flagship Pioneering to revolutionize gene therapy with its commensal virome platform, today announced a pre-print publication in bioRxiv on the first comprehensive examination in humans of anellovirus-specific antibody responses. The study highlights the immune favorability of anelloviruses, underscoring the potential of Rings Anellogy platform to harness the unique biology of commensal anelloviruses for engineering the next generation of redosable viral vectors, AnelloVector therapeutics.

Pre-existing immunity and induced immunity to viral vectors remain major hurdles in the gene therapy space. In fact, almost half of patients have pre-existing neutralizing antibodies to AAV viral vectors that preclude them from receiving gene therapies, said Tuyen Ong, MD, MBA, Chief Executive Officer at Ring and CEO-Partner at Flagship Pioneering. As demonstrated here, the apparent low immunogenicity of natural anelloviruses is a key intrinsic characteristic that may translate to the safety and efficacy of AnelloVector therapeutics. Their immune stealth potentially enables redosing, one of the key characteristics of an ideal viral vector for gene therapies. We are looking forward to building on these key findings with further data on anellovirus immunology over the coming months to support the Anellogy platforms ability to address the major limitations of current genetic medicines.

In the study, researchers from the Laboratory of Precision Immunology at Johns Hopkins Medicine (under study lead investigator Ben Larman, Ph.D.) and Ring evaluated antibody responses to anelloviruses, utilizing serum samples from blood transfusion donors and recipients followed up to 270 days. They developed an assay to comprehensively profile antibodies to all known human anelloviruses, a diverse group of commensal viruses present in most people. Utilizing a newly designed AnelloScan assay, which is based on a technique known as bacteriophage display, over 32,000 peptides derived from >800 anellovirus genomes were tested on serum antibodies from 156 individuals. Findings revealed that most anellovirus peptides were not associated with an antibody response in any subject tested. Longitudinal analysis on a blood-transfusion donor(s)-recipient cohort also showed that most anelloviruses transmitted from the donor elicited no antibody response detectable using AnelloScan, and those that did, only elicited a delayed, weak response. Notably, antibody responses were not found to correlate with viral abundance, age, sex or chronic inflammatory diseases such as rheumatoid arthritis.

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About Ring TherapeuticsRing Therapeutics is revolutionizing the gene therapy and nucleic acid medicine space by harnessing the most abundant and diverse member of the human commensal virome, anelloviruses. The company developed the Anellogy platform which focuses on anelloviruses to potentially treat a broad range of diseases. Through harnessing the unique properties of these commensal viruses, the Anellogy platform generates diverse vectors that exhibit both tissue-specific tropism and the potential to be re-dosed. Ring Therapeutics, founded by Flagship Pioneering in 2017, aims to develop and further expand its portfolio by leveraging its platform to unlock the full potential of gene therapy and nucleic acid medicines, enabling a variety of mechanisms that successfully deliver therapeutic cargo to unreachable organs and tissues. To learn more, visit https://www.ringtx.com/ or follow us on Twitter at @Ring_tx.

Ring Therapeutics Media:Brittany Leigh, Ph.D.LifeSci Communicationsbleigh@lifescicomms.com+1-813-767-7801

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Ring Therapeutics Announces Publication Highlighting the Immune Favorability of Commensal Anelloviruses - Yahoo Finance

NEW YORK A recent study led by researchers at Mount Sinai in New York found that informing patients of genetic testing results immediately, using members of their community rather than outside genetic counselorsled to significant lifestyle changes.

The study, published in JAMA Network Open earlier this month, assessed the effects of telling patients with risk variants in the apolipoprotein L1 (APOL1)gene the results of genetic testing. High-risk variants of the genotype are common in people with African ancestry and indicate a higher risk of kidney failure and hypertension.

Girish Nadkarni, a professor of medicine at Mount Sinai's Icahn School of Medicine and the study's first author, said that while there are a lot of systemic factors that lead to the disproportionate rate of kidney disease in people of color, the APOL1 gene leads to a "fivefold increase in risk."

Regardless of what the test is for, the results of the study suggest that using community resources to explain the results of any genetic test to patients are beneficial to them.

According to the JAMA paper, blood pressure control can reduce kidney function deterioration, but "people of African ancestry have the highest age-adjusted prevalence of hypertension and the lowest rates of blood pressure control." In addition, kidney function tests can help clinicians risk-stratify patients, but they "are underused among patients at high risk of [chronic kidney disease], especially patients of African ancestry," the researchers wrote.

The study's aim was to find out whether testing patients for APOL1 would affect clinical care processes, such as kidney disease screening, and improve outcomes, the researchers wrote. Nadkarni noted that there has been "a lot of interest" around the gene, making it a "prime candidate" to be the subject of the study.

In the Genetic testing to Understand and Address Renal Disease Disparities (GUARDD) study, 2,050 African American patients with hypertension, but without existing chronic kidney disease, from two health systems in New York were assigned to an interventional or delayed group, which dictated when they would receive genetic testing results. The interventional group and their clinicians received results immediately, while delayed group patients received their results after 12 months.

The study, which monitored patients between 2014 and 2018, found that patients in the interventional group had increased improvement in blood pressure, increased the frequency of urine testing for kidney function, and had more lifestyle changes, Nadkarni said. Patients in this group also reported that they were "happy to get tested" and would get tested again, he said.

Although the average blood pressure for all patients dropped three months after enrollment in the study, high-risk APOL1 patients saw a greater drop in blood pressure than those with low-risk APOL1 variants and those who had not received results.

A key component of the study, said Carol Horowitz, a professor of population health science and policy at Mount Sinai and the study's senior author, was that patients received their results from trained laypersons instead of genetic counselors. Having clinical research coordinators who belonged to the same community provide results in person to patients with high-risk APOL1 genotypes ensured that patients understood the information being given. Coordinators would ask patients to repeat the explanation in the patients' own words and would repeat or reframe the explanation until they understood, the researchers wrote.

The study was performed in collaboration with the Genomics Stakeholder Board, which included local patients, clinicians, advocates, and health system leaders. In working with the board, the researchers "tried to figure out what was most important to patients" when genetic testing results were being communicated, Nadkarni said. What they found, he added, was that patients wanted "the ability to know their own risk so something can be done."

There are a variety of factors that keep people of color, particularly African Americans, from utilizing genetic testing, including socioeconomic issues and distrust in the medical system, Nadkarni said, so engaging individuals that are trusted in Black communities was essential.

Minoli Perera, an associate professor of pharmacology at Northwestern University's Feinberg School of Medicine who was not involved in the study, noted that there are also disparities in which patients get referred for genetic testing, with a preference toward those who are being seen at large academic medical centers and patients with cancer.

Clinicians in other subspecialties beyond oncology, including nephrology, are significantly less likely to utilize genetic testing and might not be as familiar with it, she added. A lack of physician education is "still a big stumbling block" when it comes to getting patients genetic testing, she said.

There are also a lot of regulations and restrictions on which labs can perform which types of genetic tests, and many labs in smaller settings may not be able to meet those requirements, she said. All of these factors can contribute to minority patients not receiving genetic testing, she said.

But this study, along with other efforts and initiatives to disseminate genetic testing beyond academic medical centers, is a step in the right direction, she said. Although studies like this ones specific to a particular ethnicity aren't "commonplace," Perera said there's a "real importance in doing this specific work for a specific community."

It "has a direct impact," she said.

Similar studies that look at genetic testing and its effects among people of color are becoming more prevalent, however. A recent study of BRCA1/2 testing patterns among triple-negative breast cancer patients showed that African American women are facing more barriers in accessing genetic testing, while research published in the New England Journal of Medicine in 2016 showed that lack of diversity in genetic studies can result in misdiagnoses of heart disease for patients with African ancestry.

The Mount Sinai researchers are now conducting a national multicenter trial, GUARDD-US, which is enrolling 5,000 patients, including those with chronic kidney disease, Nadkarni said. It will be looking at a variety of outcomes, including clinical and psycho-behavioral factors, such as blood pressure and patient satisfaction, he added.

The study's authors are hopeful that the results from the original GUARDD study could improve access to genetic testing. The results "may support an approach of broad implementation of genetic medicine in primary care," they wrote. That implementation "will benefit racial and ethnic minority groups that have been traditionally underrepresented in both clinical trials and genetic studies."

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Use of Community Resources to Inform Black Patients of Genetic Test Results Improves Outcomes, Study Finds - GenomeWeb