PITTSBURGH, May 12, 2021 (GLOBE NEWSWIRE) -- NeuBase Therapeutics, Inc. (Nasdaq: NBSE) ("NeuBase" or the "Company"), a biotechnology company accelerating the genetic revolution with a new class of precision genetic medicines, announced today the appointment of Gerald (Gerry) J. McDougall to the Company's Board of Directors. For more than 25 years, Mr. McDougall has been the driving force behind large-scale strategic alliances, joint ventures, and industry partnerships across the healthcare industry to advance innovations in precision medicine and cancer.

"Gerry's deep expertise, passionate commitment to improve the human condition, and vast network have been the foundation for numerous transformational alliances in life sciences and healthcare, and his ability to create synergistic combinations of people, ideas, and resources is exceptional," said Dietrich A. Stephan, Ph.D., Founder, CEO and Chairman of NeuBase. "The Board and I look forward to working closely with Gerry as we advance NeuBase's comprehensive approach to precision genetic medicine to address previously untreatable diseases."

"Genetics are the foundation for understanding and treating rare and common diseases including cancers, and the ability to precisely modulate gene function is key to developing new medicines for the many diseases that still have no treatment options," said Mr. McDougall. "I have dedicated my career to coalescing divergent approaches to achieve precision care, and I believe NeuBase can unify the field of precision genetic medicine with its PATrOL technology platform."

Mr. McDougall spent almost his entire career as a senior partner at PwC where he built and led the firm's Global Health Science consulting practice before retiring. He has worked across the entire ecosystem of the healthcare industry and advised an array of Fortune 500 companies, including leading global pharmaceutical companies. Mr. McDougall has been instrumental around the globe in building public-private partnerships to address human health imperatives. These include the creation and maturation of the Translational Genomics Research Institute (TGen), Arizona's renowned bio-cluster; the design and launch of the Multiple Myeloma Research Consortium (MMRC); the strategic plan for the California Institute of Regenerative Medicine (CIRM) and the Country of Luxemburg's biotechnology commercialization ecosystem.

About NeuBase Therapeutics, Inc.NeuBase is accelerating the genetic revolution by developing a new class of precision genetic medicines which can be designed to increase, decrease, or change gene function, as appropriate, to resolve genetic defects that drive disease. NeuBase's targeted PATrOL therapies are centered around its proprietary drug scaffold to address genetic diseases at the DNA or RNA level by combining the highly targeted approach of traditional genetic therapies with the broad organ distribution capabilities of small molecules. With an initial focus on silencing disease-causing mutations in debilitating neurological, neuromuscular, and oncologic disorders, NeuBase is committed to redefining medicine for the millions of patients with both common and rare conditions. To learn more, visit http://www.neubasetherapeutics.com.

Use of Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act. These forward-looking statements are distinguished by use of words such as "will," "would," "anticipate," "expect," "believe," "designed," "plan," or "intend," the negative of these terms, and similar references to future periods. Forward-looking statements include, among others, those related to the anticipated strategic guidance and assistance that the Company's new director will provide to support the Company's comprehensive approach to precision genetic medicine to address previously untreatable diseases. These views involve risks and uncertainties that are difficult to predict and, accordingly, our actual results may differ materially from the results discussed in our forward-looking statements. Our forward-looking statements contained herein speak only as of the date of this press release. Factors or events that we cannot predict, including those risk factors contained in our filings with the U.S. Securities and Exchange Commission (the SEC), may cause our actual results to differ from those expressed in forward-looking statements. The Company may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements, and you should not place undue reliance on these forward-looking statements. Because such statements deal with future events and are based on the Company's current expectations, they are subject to various risks and uncertainties, and actual results, performance or achievements of the Company could differ materially from those described in or implied by the statements in this press release, including: the Company's plans to develop and commercialize its product candidates; the timing of initiation of the Company's planned clinical trials; the timing of the availability of data from the Company's clinical trials; the timing of any planned investigational new drug application or new drug application; the Company's plans to research, develop and commercialize its current and future product candidates; the clinical utility, potential benefits and market acceptance of the Company's product candidates; the Company's commercialization, marketing and manufacturing capabilities and strategy; global health conditions, including the impact of COVID-19; the Company's ability to protect its intellectual property position; and the requirement for additional capital to continue to advance these product candidates, which may not be available on favorable terms or at all, as well as those risk factors contained in our filings with the SEC. Except as otherwise required by law, the Company disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

NeuBase Investor Contact:Dan FerryManaging DirectorLifeSci Advisors, LLCdaniel@lifesciadvisors.comOP: (617) 430-7576

NeuBase Media Contact:Jessica Yingling, Ph.D.Little Dog Communications Inc.jessica@litldog.com+1 (858) 344-8091

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NeuBase Therapeutics Appoints Gerald J. McDougall to Board of Directors - BioSpace

- Intracochlear delivery of a dual AAVAnc80 vector encoding human otoferlin results in full-length protein expression in inner hair cells of non-human primates and in durable protein expression sufficient for sustained restoration of auditory function in Otof knockout mice

- Multiple analyses demonstrate in vitro transduction with dual AK-OTOF vector results in full-length otoferlin expression, with no detection of truncated proteins

- Long-term, local expression of anti-VEGF protein is robust and well tolerated following intracochlear administration of AK-antiVEGF in non-human primates

- Akouos continues to progress towards planned IND submissions for AK-OTOF in the first half of 2022 and for AK-antiVEGF in 2022

BOSTON, May 11, 2021 (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 presented nonclinical data supporting the future clinical development of both AK-OTOF, a gene therapy intended for the treatment of otoferlin gene (OTOF)-mediated hearing loss, and AK-antiVEGF, a gene therapy intended for the treatment of vestibular schwannoma, in three digital presentation sessions at the virtual American Society of Gene and Cell Therapy (ASGCT) 24th Annual Meeting.

We are excited to share new data that highlight the potential of genetic medicines for inner ear conditions with the broader gene therapy community, said Manny Simons, Ph.D., M.B.A., co-founder, president, and chief executive officer of Akouos. Inner ear conditions represent one of the largest areas of unmet need in medicine today, and one of the challenges in this area is the ability to efficiently address the broad range of conditions that collectively affect hundreds of millions of individuals worldwide. The nonclinical data presented today for the AK-OTOF and AK-antiVEGF programs demonstrate how we are leveraging our genetic medicines platform and multiple AAV-mediated modalities, including gene transfer and therapeutic protein expression, to begin to address that challenge.

Nonclinical data presented at ASGCT for AK-OTOF continue to support the potential to restore physiologic hearing and provide long-lasting benefit to individuals with OTOF-mediated hearing loss. In Otof knockout mice, AK-OTOF administration results in durable expression of human otoferlin protein sufficient for sustained restoration of auditory function. In addition, data presented indicate that expression of exogenous secreted protein at or above reported biologically active levels, driven by a ubiquitous promoter, is well tolerated in non-human primates following administration of AK-antiVEGF. These IND-enabling nonclinical studies are promising and support future clinical development. Our team continues to work towards submission of INDs for AK-OTOF and AK-antiVEGF expected in 2022, said Greg Robinson, Ph.D., chief scientific officer of Akouos.

In Vitro and In Vivo Analyses of Dual Vector Otoferlin Expression to Support the Clinical Development of AK-OTOF (AAVAnc80-hOTOF Vector)

Presenting Author: Eva Andres-Mateos

Abstract Number: 355

Otoferlin plays a critical role in exocytosis of synaptic vesicles at the inner hair cell synapse, and mutations inOTOF, the gene encoding otoferlin, are associated with autosomal recessive sensorineural hearing loss. AK-OTOF is designed to deliver normal OTOF by utilizing a dual vector approach,which encodes the 5 and the 3 components of OTOF. Multiple analyses demonstrate in vitro transduction with dual AK-OTOF vector results in full-length human otoferlin (RNA and protein), with no detection of truncated proteins from either AK-OTOF or its component vectors (5hOTOF and 3hOTOF). A one-to-one ratio of the AK-OTOF component vectors appears to be optimal for efficient reconstitution of full-length human otoferlin. In cynomolgus macaques, full-length human otoferlin protein expression is detected in inner hair cells of non-human primate (NHP) cochleae by both immunohistochemistry and immunodetection one month following intracochlear administration of AAVAnc80-FLAG.hOTOF.

The digital presentation is located at https://akouos.com/gene-therapy-resources/.

Durable Recovery of Auditory Function Following Intracochlear Delivery of AK-OTOF (AAVAnc80-hOTOF Vector) in a Translationally Relevant Mouse Model of Otoferlin Gene (OTOF)-Mediated Hearing Loss

Presenting Author: Ann Hickox

Abstract Number: 569

Otoferlin gene (OTOF)-mediated hearing loss is caused by mutations in the OTOF gene and is typically characterized by a congenital, Severe to Profound sensorineural hearing loss. The physiologic deficiency resulting from OTOF mutations is localized; specifically, synaptic transmission between the inner hair cell and the auditory nerve is affected, as measured by an absent or abnormal auditory brain stem response (ABR). Gene therapy for OTOF-mediated hearing loss is expected to confer the greatest benefit when cochlear integrity is preserved, as represented by present otoacoustic emissions (OAEs). Individuals with OTOF-mediated hearing loss typically experience a decline in cochlear integrity within the first decade of life, indicated by initially present, then absent, OAEs. In an Otof knockout mouse model that recapitulates the human phenotype, administration of AK-OTOF, an adeno-associated viral gene therapy vector encoding human otoferlin under the control of a ubiquitous promoter, results in durable restoration of auditory function, as measured by ABRs, and may preserve OAEs.

The digital presentation is located at https://akouos.com/gene-therapy-resources/.

Demonstration of Tolerability of a Novel Delivery Approach and Secreted Protein Expression Following Intracochlear Delivery of AK-antiVEGF (AAVAnc80-antiVEGF Vector) in Non-Human Primates

Presenting Author: John Connelly

Abstract Number: 358

Data published from previous clinical trialsshow that systemic VEGF inhibitor therapy can reduce vestibular schwannoma (VS) tumor volume and improve hearing in some participants with mutations in the NF2 gene. However, toxicity limits the potential of this systemic delivery approach from being a viable treatment option for vestibular schwannoma. The exposure and tolerability of local expression of anti-VEGF protein following bilateral, intracochlear administration of AK-antiVEGF was evaluated through analyses of protein levels, as well as physiologic and histologic evaluations, in NHPs. Long-term, local expression of anti-VEGF protein, driven by a ubiquitous promoter, is robust and well tolerated in NHPs following intracochlear administration of AK-antiVEGF. Computational modelling supports the potential for diffusion of anti-VEGF protein at or above reported biologically active levels to the site of the VS tumor.

The digital presentation is located at https://akouos.com/gene-therapy-resources/.

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.

Cautionary Note Regarding 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, the timing of our IND submissions for AK-OTOF and AK-antiVEGF, our expectations regarding our manufacturing capabilities and timelines, and the period over which we believe that our existing cash, cash equivalents and marketable securities will be sufficient to fund our operating expenses. 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; 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 Annual Report on Form 10-K for the year ended December 31, 2020 filed with the Securities and Exchange Commission, 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.

Contacts

Media:Katie Engleman, 1ABkatie@1abmedia.com

Investors:Courtney Turiano, Stern Investor RelationsCourtney.Turiano@sternir.com

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Akouos Presents Nonclinical Data Supporting Future Clinical Development of AK-OTOF and AK-antiVEGF at the American Society of Gene and Cell Therapy...

BETHESDA, Md., May 11, 2021 /PRNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) has released an important new clinical practice resource from a global team of specialists in cancer genetics that will help inform the clinical management of patients who are at increased risk of breast cancer, pancreatic cancer and likely ovarian cancer.

"Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)"was published in ACMG's official journal, Genetics in Medicine.

PALB2(Partner and Localizer of BRCA2) germline pathogenic variants are associated with substantially increased breast cancer risk and smaller increased risk for pancreatic and ovarian cancer. Germline pathogenic/likely pathogenic (P/LP) variants in PALB2 were first associated with increased cancer risk in 2007 and clinical testing has been available since then. It has come to be considered as the third most important breast cancer gene after BRCA1 and BRCA2. Despite the emerging importance of this gene, there has been a dearth of resources to guide clinical management of women and men with PALB2 germline P/LP variants.

"PALB2 is sometimes referred to as 'BRCA3,' given its importance in risk of breast cancer. People who harbor a germline pathogenic or likely pathogenic variant in PALB2 face challenging questions, especially about their personal risk to develop cancers of the breast, ovaries and pancreas, and how to manage that risk. In developing this clinical practice resource, we sought to help guide patients and their treating providers to make the best possible decisions based on current high-quality peer-reviewed evidence and a worldwide network of practicing physicians with expertise in cancer genetics," said Douglas R. Stewart, MD, FACMG, co-author and past chair of the ACMG Professional Practice and Guidelines Committee.

Key recommendations include the following:

This Clinical Practice Resource concludes that this guidance is similar to those for patients with BRCA1/2. While the range of the cancer risk estimates overlap with BRCA1/2, it is lower in PALB2, so individualized estimates are important for management decisions. Systematic prospective data collection is needed to determine, as yet, unanswered questions, such as the risk of contralateral breast cancer and survival after cancer diagnosis.

"This new document is landmark for the ACMG in a couple of ways," said Marc S. Williams, MD, FAAP, FACMG, FACMI, president of the American College of Medical Genetics and Genomics. "First, it reflects a commitment of the ACMG to develop guidance for use of germline genetic information for the treatment of patients with cancer. Second, this represents the first of what we hope will be many guidance documents that reflect a diverse, global perspective. The working group included experts on PALB2 from around the world so that the guidance will have relevance for patients from diverse backgrounds receiving care in a variety of settings," he said.

The global team of authors for this new Clinical Practice Resource includes Marc Tischkowitz, MD, PhD, Judith Balmana, MD, PhD, William D. Foulkes, MBBS, PhD, Paul James, MD, PhD, Joanne Ngeow, MBBS, MPH, Rita Schmutzler, MD, Nicoleta Voian, MD, MPH, Myra J. Wick, MD, PhD, Douglas R. Stewart, MD and Tuya Pal, MD and the ACMG Professional Practice and Guidelines Committee. They are experts in clinical cancer genetics, breast and gynecologic surgery and medical oncology and practice in Australia, Asia, the United States, Canada, the United Kingdom and Europe.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical professional organization solely dedicated to improving health through the practice of medical genetics and genomics, and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,500 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website, http://www.acmg.net offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Contact: Kathy Moran, MBA[emailprotected]

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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Global Team of Cancer Genetic Specialists Provides New Guidance for Individuals with PALB2 Gene Variants: ACMG Clinical Practice Resource to Help...

LEXINGTON, Mass., May 10, 2021 /PRNewswire/ --LogicBio Therapeutics, Inc. (Nasdaq:LOGC), a clinical-stage genetic medicine company pioneering gene delivery and gene editing platforms to address rare and serious diseases from infancy through adulthood, today announced the appointment of Andrea Paul as general counsel and corporate secretary and Janice Olson as senior vice president of strategy and portfolio management. Ms. Paul and Ms. Olson are both seasoned industry experts with extensive experience in the pharmaceutical and biotechnology industries including in the gene therapy and rare disease sectors.

"It is an exciting time at LogicBio with ongoing efforts to expand the reach of our GeneRide and sAAVy platforms validated by our recent collaboration deals with Daiichi Sankyo and CANbridge Pharmaceuticals. Adding key talent across the team is essential to our success and I look forward to working with Andrea and Janice, whose broad industry experience will be instrumental as we further strengthen our leadership position in the development of next-generation genetic medicines," said Frederic Chereau, president and chief executive officer of LogicBio Therapeutics.

Andrea Paul, General Counsel and Corporate Secretary

Ms. Paul joins LogicBio Therapeutics as general counsel and corporate secretary,effective May 17, 2021, bringing several years of experience in the pharmaceutical and biotechnology industries. She is currently at Akebia Therapeutics, Inc., where she has held roles of increasing responsibility, most recently serving as vice president, legal. While at Akebia, Ms. Paul was a key strategic legal partner in the company's merger with Keryx Biopharmaceuticals, Inc. as well as in the company's financing and business development transactions. Prior to Akebia, she served as senior corporate counsel at Momenta Pharmaceuticals, Inc. Before that, she was an associate at Mintz Levin and Sullivan & Cromwell LLP. She received her JD from Harvard Law School, where she served as the managing editor of the Harvard Law Review, and her BA from Columbia University (Columbia College). Ms. Paul currently serves as the co-chair of the Securities Law Committee of the Boston Bar Association.

"I am excited to be joining the executive team at LogicBio. The Company is deeply committed to patients, and I look forward to helping the team deliver the benefits of genetic medicine to the fight against early onset childhood diseases," said Ms. Paul.

Janice Olson, Senior Vice President, Strategy and Portfolio Management

Ms. Olson joins LogicBio Therapeutics as senior vice president, strategy and portfolio management,effective June 7, 2021. Previously, she spent more than 25 years at Genzyme (now Sanofi Genzyme) holding multiple roles, most recently serving as head of global medical affairs operations, starting in January 2016. Before that, Ms. Olson served as vice president of portfolio and program management for the Genzyme R&D center. During her time at Genzyme, she developed extensive experience managing and coordinating multi-disciplinary teams for numerous R&D projects from discovery through launch. She has also served as program lead for multiple gene therapy programs developed worldwide. Ms. Olson received her MBA and BS in biology from Northeastern University.

"I am thrilled to become part of LogicBio's amazing journey at such a transformative step of its development, and I am looking forward to helping the team and the Company's new strategic partners advance programs forward for patients with significant unmet needs," said Ms. Olson.

The Company also announced the resignation of Kyle Chiang, PhD, who will be stepping down as chief operating officer, effective May 28, 2021, to pursue an opportunityat a venture capital firm focusing on early-stage sustainability and life sciences focused ventures.Dr. Chiang will consult with the Company over the next several months to ensure a smooth transition.

"I would like to thank Kyle for his commitment over the early years of the Company and wish him the best as he enters a new field. With the additions announced today, we are further strengthening our leadership team, and I am confident we are well positioned to continue to expand our platforms and pipeline in the years ahead," added Mr. Chereau.

About LogicBio Therapeutics, Inc.

LogicBio Therapeutics is a clinical-stage genetic medicine company pioneering gene delivery and gene editing platforms to address rare and serious diseases from infancy through adulthood. The company's proprietary GeneRide platform is a new approach to precise gene insertion that harnesses a cell's natural DNA repair process leading to durable therapeutic protein expression levels. LogicBio's cutting-edge sAAVy capsid development platform is designed to support development of treatments in a broad range of indications and tissues. The company is based in Lexington, MA. For more information, visit https://www.logicbio.com/.

Media Contacts:

Adam DaleyBerry & Company Public RelationsW: 212-253-8881C: 614-580-2048[emailprotected]

Jenna UrbanBerry & Company Public RelationsW: 212-253-8881C: 203-218-9180[emailprotected]

Investor Contacts:

Matt LaneGilmartin Group617-901-7698[emailprotected]

SOURCE LogicBio Therapeutics, Inc.

https://www.logicbio.com/

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LogicBio Therapeutics Strengthens Management Team with Key Appointments - PRNewswire

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Study to look for genetic pathways that lead to formation of plaques, tangles

A $10.7 million, five-year grant will support a comprehensive study in which whole genome sequencing will be used to address critical gaps in knowledge about Alzheimer's disease. The project is led by researchers at Washington University School of Medicine in St. Louis and the University of Pittsburgh Graduate School of Public Health.

Despite decades of research and investment, the genetic underpinnings of Alzheimers disease are still largely unknown, stymieing efforts at drug development and early diagnosis. To change that, a new grant will support the first comprehensive study to use whole genome sequencing to address critical gaps in knowledge about the disease. The $10.7 million, five-year project is led by researchers at Washington University School of Medicine in St. Louis and the University of Pittsburgh Graduate School of Public Health.

Funded by the National Institute on Aging of the National Institutes of Health (NIH), the research team plans to identify the genetic variants, genes and pathways that lead to formation of plaques and tangles, two specific signs of disease called biomarkers that begin appearing in the brains of people with Alzheimers 15 to 25 years before they show symptoms.

Cruchaga

Genetic studies of measurable traits such as plaques and tangles provide advantages over other classic case-control studies, because these traits appear earlier and are more closely related to the biology behind the disease, said Carlos Cruchaga, PhD, a co-principal investigator of the study and the Reuben Morriss III Professor of Neurology at Washington University School of Medicine. In addition, studying these traits is more likely to lead to the identification of druggable targets along the genetic pathways that lead to disease. This genetic information can help us better predict disease risk at the individual patient level.

Cruchaga, also a professor of psychiatry, is working with co-principal investigator Ilyas Kamboh, PhD, a professor of human genetics and epidemiology at Pitt Public Health. Together, they plan to study as many as 5,000 participants at high risk for Alzheimers. The researchers will gather biomarker data to identify genetic variants that appear decades before clinical symptoms of the disease.

All of the clinical trials to find a drug to stop Alzheimers disease have failed because theyve focused on patients who already have developed the disease, so they already had high levels of plaques and tangles, said Kamboh. Once you have the plaques and tangles, it seems to be an irreversible process, so were focused on the preclinical stage of the disease.

According to the World Health Organization, Alzheimers disease is the most common form of dementia, with about 50 million cases worldwide and 6 million new cases each year. It is one of the major causes of disability and dependency among older people.

The plaques and tangles in the brain associated with Alzheimers can be thought of like cholesterol in the arteries of the heart and its association with heart disease, Kamboh explained. Cholesterol can quietly accumulate over years along the walls of the coronary arteries without causing symptoms until it causes a heart attack and does irreversible damage to the heart. Some genes predispose people to accumulate more cholesterol, and understanding that can allow people to take medication and make lifestyle changes that reduce the risk of heart disease. It also can prompt pharmaceutical companies to develop drugs that target the genetic pathways that lead to the formation of cholesterol deposits.

The new project will look for the genetic underpinnings of the plaques and tangles known to define Alzheimers disease and that formed due to abnormal accumulation of amyloid beta and tau proteins, respectively. Both can be detected early in the brains of living people through neuroimaging and the testing of cerebrospinal fluid.

In the past, we could detect these plaques and tangles only after death, through a brain autopsy, Kamboh said. Now we can identify them while people are living.

But those imaging and fluid-collection techniques are expensive and can be invasive.

New methods are now being developed to detect the presence of abnormal amyloid beta and tau proteins in less expensive blood tests, Cruchaga said. We hope that by learning more about the genes associated with the plaques and tangles, we might uncover underlying pathways that lead to Alzheimers disease and discover potential drug targets.

This study is supported by the National Institute on Aging of the National Institutes of Health (NIH). Grant number R01 AG064877.

Washington University School of Medicines 1,500 faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is a leader in medical research, teaching and patient care, consistently ranking among the top medical schools in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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WashU, Pitt awarded $10.7 million for Alzheimer's disease research Washington University School of Medicine in St. Louis - Washington University...