Category Archives: Transhuman News

Humans havearound400olfactorysmell-sensing genes the largest gene familyin humansthat are turnedon in the noseand other parts of the body, allowing us to smell at least one trillion different odours.Up until now, the role of theseolfactorygenes outside the nose has been largely unknown.

A recent study, published in Molecular Systems Biology, usedmultiple layers of artificial intelligence (AI) toidentifythesegenes involved inthe organisation ofcolon cancer cells. Thisrevealed thatsmell-sensinggenescancontribute to this cancer-associated processalong with keycoloncancer genesandhighlighted their potential role indisease spread andprognosis.

The discoverywas enabled by thedevelopmentof an innovativeAI system, calledKnowledge-and Context-driven Machine Learning (KCML)that enables researchers to studymicroscopy imagesin greater detail to understand more about the function of genes in specific context. KCML has first been applied to colon cancerbut is widely applicable in other diseases too.

The researchers usedcomputer vision algorithm to detect changes in cell appearance and organisation. The algorithm was fed information from robotic microscopy, in collaboration with researchers from the University of Zurich, to image millions of colon cancer cells.By reducing the expression of the smelling genes within these cells, they were able to understand more about the role they play in carcinogenesis.

Expression is whengenes are activated to produce certain proteinsand molecules. Researchers in this study found that reducing the expression of smell-sensing genes in colon cancer cells, a process known as perturbation,can inhibit cells from spreading, potentially by restraining the ability of cells to move. The same behaviour is also observed in the perturbation of key cancer genes.

Dr Heba Sailem,Sir Henry Wellcome Research Fellow at theInstitute of Biomedical Engineering in the UK, alead author on the study,explained: With all this big imaging data, we have a powerfulmeans tobetter understand how every single gene contributes to cancer cell behaviour. I have developed an AI system that is guided by prior knowledge of gene function that allows us to learn much more from this data than would be possible using existing methods.

When humans look atcomplex scenes, theyinterpret the images in light of their previous experience and visual memories (prior knowledge). However, computersjust seeimages asalargematrix of numbers, they will not see shapes and structures.Computer vision is about training the computer to see whatthe human can see. Through AI, we are able to identifyhow turning genes off affectsthe characteristics, shape and structureof cells and tissue. Usually, it is a very lengthy process for humans to interpret numbers from thousands of images, each with thousands of cells.Computer vision can achieve that in a few days,she added.

Dr Sailemswork has focussed on studying cells in culture, and the next step will beto link these findingsthroughto real patient data. She is also keen to apply her AI modelto study the behaviour of genes indifferent cancers, including prostrate, breast and lung.

WHY IT MATTERS

Colorectal cancer is the third most common cancer in the UK and the second most common cause of cancer deaths.

Professor Mark Lawler, chair in translational cancer genomics, Centre for Cancer Research and Cell Biology, Queens University Belfast and Bowel Cancer UK medical advisor,welcomed the application of the new AI model in colorectal cancer, commenting the study showed the power of data in revealing new mechanisms.

One of the biggest challenges in colorectal cancer is metastasis. This is the point at which most patients die. Something that tells us more about that and maybe indicates how this could be controlled is verypromising, he added.

Dr Sailem explained:Cancer is not one disease - itcan be classified intomany diseases depending ontissue type and origin. Wecan takecellsfrom diseased tissueand look at what the genes in theseparticular cellsare doing. We can then identify genes to target for therapy or genesfor which targeted therapies already exist.

THE LARGER TREND

AIand machine learningis increasingly being used to acceleratethe development oftargeted therapies in cancer and other diseases, with leading technology and pharmaceuticalcompanies forming high profile partnerships in recent months.

One such collaboration between Novartis and Microsoft was announced in October to transform medicine with AI. Vas Narasimhan, CEO of Novartis, said, As Novartis continues evolving into a focused medicines company powered by advanced therapy platforms and data science, alliances like this will help us deliver on our purpose to reimagine medicine to improve and extend lives. Pairing our deep knowledge of human biology and medicine with Microsofts leading expertise in AI could transform the way we discover and develop medicines for the world.

ON THE RECORD

Professor Tim Maughan,professor of clinical oncology at the University of Oxford and advisor to Bowel Cancer UK,saidDr Sailemsstudy linked to his own research into howcellswithin tumourstalkto each other.

He said: What they say to each other is determined by molecular make up but also by the conversation going on between the cells. The shape that the cellshave, theway that theyareorganised, the distance they are apart, how close the immune cells get into the cancer,is all a result of the conversation going on between the different cell types within a cancer

DrSailemin this study has found that inadditiontoidentifyingwhole new genes which are important in bowel cancer, she has also picked up that genes that are part of thatolfactorysmell system play a part of this conversation.

Commentingon the research, Professor Lawler said:It is saying something about why there areolfactorygenes in other parts of the body and how they might be responding to the microbiome in the gut. It will be interesting to see what stimulates these genes to upregulate or down regulate in their environment. From there we may be able to identify important biomarkers.

He added: Big data for better health makes sense. You can use that data to change lives, diagnose patients earlier, develop better treatment and improve their quality of life and above all, data can really save lives.

For more information on bowel cancer go to http://www.bowelcanceruk.org.uk.

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A new AI system has enabled the discovery of a novel role for 'smell-sensing' genes in colon cancer - Healthcare IT News

SAN FRANCISCO, March 23, 2020 /PRNewswire/ --Invitae (NYSE: NVTA), a leading medical genetics company today announced its partnership with the Muscular Dystrophy Association (MDA) to offer sponsored, no-charge genetic testing to patients through the Detect Muscular Dystrophy program in MDA's care center network, a network of clinics at more than 150 of the nation's top healthcare institutions.

Research has shown no-charge testing programs help increase utilization of genetic testing, which can shorten the time to diagnosis by as much astwo years in some conditions. Accurate diagnoses enable clinicians to focus on providing disease-specific care sooner, helping reduce costs and improve outcomes.

"Muscular dystrophy consists of many disorders with overlapping symptoms that often make diagnosis more challenging. Genetic testing can help accelerate diagnosis and treatment of conditions such as Duchenne Muscular Dystrophy or Becker Muscular Dystrophy which enables clinicians to begin identifying treatment options sooner," said Lynn O'Connor Vos, President and CEO of Muscular Dystrophy Association. "By bringing this program to our care centers, we can make it easier for patients to get tested, moving them one step closer to the care they need."

Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Muscular dystrophies affect 1 out of every 4,000 to 5,000 people with varying severity and presentation, often affecting skeletal muscle and ambulation, and in some forms involving cardiac, respiratory, swallowing muscles or other organs and tissues. Genetic testing has been proven to shorten the time to diagnosis and prevent misdiagnosis. Accurate and early identification of affected individuals allows for improved clinical outcomes.

In addition to genetic testing, the Detect Muscular Dystrophy program offers post-test genetic counseling to help patients understand test results and make more informed decisions about their health and follow-up care. Detect Muscular Dystrophy also offers genetic testing to family members of patients with genetic variants associated with disease to better understand their own disease risks.

"Genetic testing can expedite making an accurate diagnosis, facilitate earlier interventions, allow genetic counseling of family members, and support clinical research into muscular dystrophies, including Duchenne and Becker muscular dystrophies, and also many other forms of muscular dystrophy," said Robert Nussbaum, M.D., chief medical officer of Invitae. "We're proud to work with MDA to increase access to early genetic testing among patients suspected of having muscular dystrophy. Their network of care centers offers patients expert care and easier access to genetic testing to inform that care."

Additional details, terms and conditions of the programs can be found at Detect Muscular Dystrophy (www.invitae.com/DetectMD). For more information on partnering with Invitae, visit http://www.invitae.com/biopharma.

Invitae sponsored testing programs are designed to increase access to genetic testing, particularly in conditions where earlier testing can improve diagnosis and treatment yet testing remains underutilized. Patients enroll in Invitae's sponsored testing programs through their clinician. Learn more atwww.invitae.com/sponsored-testing.

About Muscular Dystrophy Association Since 1950, the Muscular Dystrophy Association (MDA) has been committed to transforming the lives of people affected by muscular dystrophy, ALS and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to life-changing therapies across multiple neuromuscular diseases. MDA's Neuromuscular ObserVational Research (MOVR) data hub gathers longitudinal clinical data for multiple neuromuscular diseases to improve health outcomes and accelerate therapy development. MDA supports the largest network of multidisciplinary clinics providing best in class care at more than 150 of the nation's top medical institutions, and our national resource center serves the community with one-on-one specialized support and we offer educational conferences, events, and materials for families and healthcare providers. Each year thousands of children and young adults learn vital life skills and gain independence at summer camp and through recreational programs, at no cost to families. For more information visit mda.org.

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of genetic testing and information; and the design and benefits of the company's sponsored testing and Detect programs. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://invitae.com

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Invitae and Muscular Dystrophy Association (MDA) Expand Access to No-Charge Genetic Testing in the US and Canada - PRNewswire

CRANBURY, N.J., March 23, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced that the Company has proactively taken numerous measures in response to the novel coronavirus (COVID-19) pandemic to support the rare disease community globally and to ensure the achievement of its 2020 key strategic priorities. In support of its patients, people, and programs, a COVID-19 internal Amicus task force chaired by Chairman & CEO John F. Crowley was established in early March and meets regularly via video conference to assess COVID-19 developments and their impacts on company plans and strategies.

Our Patients. Amicus is committed to providing uninterrupted access to medicines for those who are in need of a treatment.

Our People. Amicus is aligned with public health strategies designed to prevent the spread of COVID-19 in order to protect our global workforce.

Our Programs. Amicus remains dedicated to delivering high-quality medicines for people living with rare diseases. Toward that end, Amicus has instituted a business continuity plan that it believes ensures the business will continue to perform and deliver on its mission for patients and shareholders. Based on current information, the Company continues to believe it will achieve its 2020 key strategic priorities, including:

As a leader in the global rare-disease community, our top priority remains our patients, communities and employees. We will continue to monitor the overall situation closely as it applies to all our partners and share updates appropriately.

About Galafold Galafold (migalastat) 123 mg capsules is an oral pharmacological chaperone of alpha-Galactosidase A (alpha-Gal A) for the treatment of Fabry disease in adults who have amenable GLA variants. In these patients, Galafold works by stabilizing the bodys own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography. Galafold is approved in over 40 countries around the world, including the U.S., EU, U.K, Japan and others.

U.S. Indications and UsageGalafold is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

U.S. Important Safety InformationAdverse ReactionsThe most common adverse reactions reported with Galafold (10%) were headache, nasopharyngitis, urinary tract infection, nausea and pyrexia.

Use in Specific PopulationsThere is insufficient clinical data on Galafold use in pregnant women to inform a drug-associated risk for major birth defects and miscarriage. Advise women of the potential risk to a fetus.

It is not known if Galafold is present in human milk. Therefore, the developmental and health benefits of breastfeeding should be considered along with the mothers clinical need for Galafold and any potential adverse effects on the breastfed child from Galafold or from the underlying maternal condition.

Galafold is not recommended for use in patients with severe renal impairment or end-stage renal disease requiring dialysis.

The safety and effectiveness of Galafold have not been established in pediatric patients.

To report Suspected Adverse Reactions, contact Amicus Therapeutics at 1-877-4AMICUS or FDA at 1-800-FDA-1088 or http://www.fda.gov/medwatch.

For additional information about Galafold, including the full U.S. Prescribing Information, please visit https://www.amicusrx.com/pi/galafold.pdf.

E.U. and U.K. Important Safety InformationTreatment with Galafold should be initiated and supervised by specialists experienced in the diagnosis and treatment of Fabry disease. Galafold is not recommended for use in patients with a nonamenable mutation.

For further important safety information for Galafold, including posology and method of administration, special warnings, drug interactions and adverse drug reactions, please see the European SmPC for Galafold available from the EMA website at http://www.ema.europa.eu.

About Amicus Therapeutics Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the companys website at http://www.amicusrx.com, and follow on Twitter and LinkedIn.

Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, manufacturing and supply plans, financing plans and the projected revenues and cash position for the Company. The inclusion of forward-looking statements should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, statements regarding corporate goals and the attainment of such goals, including as they are impacted by Covid-19 related disruption, are based on current information. The potential impact on operations from the Covid-19 outbreak is inherently unknown and cannot be predicted with confidence and may cause actual results and performance to differ materially from the statements in this release, including without limitation, because of the impact on general political and economic conditions, including as a result of efforts by governmental authorities to mitigate Covid-19, such as travel bans, shelter in place orders and third-party business closures and resource allocations, manufacturing and supply chain disruptions, limitations on patient access to commercial product or clinical trial sites and investigational product or other clinical study disruptions. With respect to statements regarding projections of the Company's financial outlook, actual results may differ based on Covid-19 related disruptions and other market factors, including the factors above, and the Company's ability to execute its business continuity, operational and budget plans. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2019. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof

CONTACT:

Andrew FaughnanDirector, Investor Relationsafaughnan@amicusrx.com(609) 662-3809

FOLD-G

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Amicus Therapeutics Confirms Business Continuity, 2020 Strategic Priorities and Announces Proactive Efforts to Support Public Health Initiatives,...

BEIJING--(BUSINESS WIRE)--The Beijing Expert Consensus Statement on the Standardized Application of Next-Generation Sequencing Technology in Clinical Tests - Tumor (1st Edition) has been officially published in Chinese Medical Journal. The drafting of this statement was led by Beijing Center for Clinical Laboratory, Beijing Society of Laboratory Medicine, Capital Medical University-Clinical Laboratory Diagnostics Department, and Beijing Quality Control and Improvement Center for Medical Laboratory Tests. It represents the first authoritative consensus on the standardized application of next-generation sequencing (NGS) technology in oncological clinical practice within China. It consequently serves as a base for standardized operation and management of NGS clinical laboratories. Genetron Holdings Limited (Genetron Health) has been highly recognized by the drafting agencies, and ranks first place in the acknowledgements for its outstanding contribution.

NGS testing enables detection of somatic mutation in solid tumors; this statement elaborates on its intended clinical use, testing method establishment and optimization, LDTs analytical validation, and key pre-, in- and post-analysis quality assurance steps. Such testing is currently used to provide guidance for tumor targeted medicine and monitoring, as well as to evaluate immunotherapy efficacy. With the emergence of biomarkers, new NGS technology continues to be introduced to clinical testing, and the uses of technology are expected to expand further. The consensus statement will be amended accordingly to adapt to the guidelines for NGS-based tumor gene mutation detection in clinical practice.

Genetron Health is committed to providing quality products and services. The company actively work with institutions, experts and peers to promote the regularized and standardized application of NGS technology, and promote the development of precision medicine to benefit more patients.

About Genetron Health

Genetron Health is a leading and fast-growing precision oncology company in China that aims to provide one-stop genomic profiling solutions for multiple scenarios covering early screening, diagnosis and monitoring, and biopharmaceutical services. The company collaborates with over 400 hospitals and dozens of biopharmaceutical companies and research institutions and has developed a large proprietary genomic database.

Genetron Health has established R&D centers in both the United States and China, two manufacturing facilities with both ISO 13485:2016 certification and ISO 9001:2015 certification in China and five clinical laboratories in Beijing (CLIA accreditation and CAP certification), Shanghai, Hangzhou, Chongqing and Guangzhou. The R&D capacities of Genetron Health are supported by a best-in-class research and development team led by scientists at the forefront of cancer genomics research. The company has published many research papers in highly influential worldwide peer-reviewed scientific journals, such as Nature Genetics, Nature Communications, Cell Research and PNAS.

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Genetron Health Contributes to China's First Expert Consensus Statement on the Standardized Clinical Application of NGS Testing for Oncology -...

PARIS & LEIDEN, Netherlands--(BUSINESS WIRE)--HORAMA SA, a French biotechnology company focusing on gene therapy for the treatment of rare genetic diseases in ophthalmology, announced today an exclusive licensing agreement with the Leiden University Medical Center (LUMC) for global rights to a gene therapy program to treat the Inherited Retinal Dystrophy associated with pathogenic CRB1 gene mutations, a rare but devastating ophthalmic condition leading to blindness

"We are excited to enter into this agreement with the LUMC, a leading academic institution with highly recognised scientific leaders in the field of gene therapy such as Jan Wijnholds, to expand our leadership in gene therapy. This collaboration enables us to expand our pipeline of gene therapy treatments for ophthalmic conditions for which there is a high unmet medical need, commented Christine Placet, CEO of HORAMA.

Our studies in the last 20 years resulted in the development of a platform for candidate gene therapy medicines for children with pathogenic CRB1 mutations. The main obstacle to test our novel innovative medicine gene therapy products in clinical studies was the high costs of the clinical development phase. We are, therefore, excited about this research agreement with HORAMA team, which is a global expert in this field, commented Jan Wijnholds, LUMC.

Under the agreement, HORAMA will receive an exclusive worldwide license to certain patent rights and know-how for the drug candidate (referenced as HORA-001). In return for these rights, LUMC will receive an undisclosed upfront payment, milestone payments and royalties on net sales of products. HORAMA shall be responsible to bring the gene therapy to market with completion of the non-clinical and clinical studies. Based on current timelines, and subject to regulatory review, HORAMA expects initiating a Phase I/II clinical study with HORA-001 in 2023.

Per the agreement, the parties have entered into a non-clinical development agreement with Leiden University Medical Center (LUMC), led by Dr. Jan Wijnholds, Team Leader and permanent staff member at the LUMC Department of Ophthalmology.

About HORAMA

At HORAMA, we believe in gene therapy to treat a broad range of inherited disorders.

Our focus is on Inherited Retinal Dystrophies with our lead clinical program targeting patients with PDE6B gene mutations, a condition which leads to progressive vision loss in children and adults ultimately leading to legal blindness.

Our team is pushing the boundaries of gene therapy by advancing next generation delivery platforms that will improve effectiveness and coverage of gene transfer to address multiple diseases. For more information, please go to: http://www.horama.fr.

Gene therapy market (source: FiorMarkets and Grand View Research, Inc)

Gene therapy is being developed with an aim to treat rare conditions with limited or no treatment options.

Genetic disorders occur due to gene mutations, which can result in incorrect protein synthesis. Gene therapy is used to introduce a healthy gene into cells to allow the synthesis of a functional protein. Growing awareness and acceptance of gene therapy for various disease treatments are favouring market growth.

The global gene therapy market is estimated to reach $5.5 billion by 2026, while the global ophthalmology market is projected to grow to $43 billion by 2026 (April 2019 report issued by Grand View Research, Inc.).

Inherited Retinal Dystrophies

Inherited Retinal Dystrophies (IRD) represent a diverse group of progressive visually debilitating diseases that can lead to blindness. In patients with an IRD, mutations in genes, which are critical to retinal function, lead to progressive, direct or indirect photoreceptor cell death and associated visual function losses.

IRDs are a genetically heterogeneous group of diseases, with over 260 genes identified to date, IRDs associated with pathogenic CRB1 gene mutations are among this heterogeneous group, similar to the autosomal recessive IRD associated with pathogenic PDE6B gene mutations.

About CRB1

CRB1 gene mutations are a major cause of early onset and delayed onset IRD. Proteins such as CRB1 and CRB2 are essential in the retina to maintain adhesion between photoreceptors and Mller glial cells. Loss of CRB function results in loss of photoreceptors and causes blindness.

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HORAMA Signs Exclusive License Agreement with Leiden University Medical Center Targeting CRB1 Gene Mutations to Treat Inherited Retinal Dystrophies -...

Jane Pei-Chen Chang,1,* Kuo-Hao Huang,1,* Chieh-Hsin Lin,2,3 Hsien-Yuan Lane1,3,4

1Department of Psychiatry & Brain Disease Research Center, China Medical University Hospital, Taichung, Taiwan; 2Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan; 3Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan; 4Department of Psychology, College of Medical and Health Sciences, Asia University, Taichung, Taiwan

*These authors contributed equally to this work

Correspondence: Chieh-Hsin LinDepartment of Psychiatry, Kaohsiung Chang Gung Memorial Hospital, No. 123, Dapi Road, Niaosong District, Kaohsiung 833, TaiwanTel +886-7-7317123 ext. 8753Fax +886-7-7326817Email cyndi36@gmail.com

Hsien-Yuan LaneDepartment of Psychiatry, China Medical University Hospital, No. 2, Yuh-Der Road, Taichung 404, TaiwanTel +886-4-22062121 ext. 1074Fax +886-4-2236-1230Email hylane@gmail.com

Background: Visual learning plays an important role in general populations and patients with schizophrenia. Genetic influences on visual learning remain unknown. Two functional single nucleotide polymorphisms (SNPs), Ser704Cys of the DISC1 gene and M24 (rs1421292) of the G72 gene, are strongly associated with pathogenesis and pathophysiology of schizophrenia. This study examined these two SNPs effects on visual learning in schizophrenia patients.Methods: Two hundred seventy-one patients (mean age, 37.0 years [SD = 9.3]; 159 men) with chronic schizophrenia were genotyped for the DISC1 Ser704Cys and G72 M24 SNPs and assessed for visual learning with Visual Reproduction II (delayed reproduction) of Wechsler Memory Scale III (WMS-III). For comparison, verbal learning (using Wordlist II of WMS-III) and attention (by Continuous Performance Test) were also measured.Results: The DISC1 Ser carriers excelled DISC1 Cys/Cys homozygotes in visual learning (p=0.004, effect size: 0.43), but not in other cognitive functions. G72 M24 A-allele carriers and G72 M24 T/T homozygotes performed similarly (effect size: 0.07). In SNP-SNP interaction analysis, the patients with Ser carrier_T/T had better visual learning than those with Cys/Cys_T/T (p=0.004, effect size: 0.70) and those with Cys/Cys_A-allele carrier (p=0.003, effect size: 0.65). Education had a positive effect (p=0.007), while negative symptoms had a negative effect (p< 0.001) on visual learning.Conclusion: The findings suggest that genetic variations in DISC1 Ser704Cys and G72 M24 affect visual learning in schizophrenia patients. The effect sizes of SNP-SNP interaction surpassed the sum (0.50) of effect sizes from two individual genes, suggesting synergistic DISC1-G72 interaction.

Keywords: attention, DISC1, G72, visual and verbal learning, schizophrenia

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Genetic Effects of DISC1 and G72 (DAOA) on Visual Learning of Patients | NDT - Dove Medical Press