Category Archives: Transhuman News

The 2021 H.L. Holmes Award was presented to Dr. Khalid Al-Zahrani for his novel advancements in breast cancer research. In developing a never-before-seen method, he is able to screen for specific cancer driving genes and has validated his research with promising results.

Over two years, the $180,000 award will support Dr. Al-Zahrani in the development of a gene system to identify the cause of basal-like breast cancer (BLBC). As BLBC disproportionally affects younger, premenopausal women and has a relatively poor clinical prognosis, his research will expand our knowledge of this aggressive cancer subtype which could greatly improve existing treatment methods.

Dr. Al-Zahrani will continue to work with Mount Sinai's Lunenfeld-Tanenbaum Research Institute in Toronto where he has been a post-doctoral research fellow since 2019 in Dr. Daniel Schramek's group, a world-renowned expert in genetic models of cancer. Dr. Al-Zahrani completed his Ph.D. (Philosophy, Cellular and Molecular Medicine) and B.Sc. (Specialization in Biochemistry) at the University of Ottawa and has published over a dozen articles in scientific and medical journals. As a Canadian with roots in Scotland and Saudi Arabia, Dr. Al-Zahrani is excited to develop new medicine that will help people worldwide.

Already, Dr. Al-Zahrani is exploring the uncharted field of BLBC copy number alterations with the development of a novel in vivo CRISPR technology. BLBC copy number alterations are parts of the DNA that are gained or lost that cause tumors to develop from normal cells, and in vivo refers to experiments in whole, living organisms. Using the CRISPR system, researchers can edit genes by activating or deactivating specific parts of genetic code, which allows for precise manipulation of DNA. Dr. Al-Zahrani is a pioneer in the field of BLBC genetics as he aims to understand the underlying mechanisms that drive cancer cells. His findings may uncover new approaches in the way we provide treatment.

Over two years, Dr. Al-Zahrani generated 14 different gene targeting systems in hopes of finding an all-in-one solution to target and screen specific cancer cells. He developed a technology termed KOALA (Knock-Out and Activation Linked Assay) which, when paired with CRISPR, can pick out certain parts of genetic code and trigger precise activation or deactivation. Overcoming numerous roadblocks, he finally achieved a system sufficient for use in mouse specimens. His method will allow for screening of specific BLBC genes and may ultimately identify parts of genetic code that trigger tumor growth. Importantly, KOALA allows for the rapid screening of thousands of cancer-causing genes in a single experiment, whereas conventional techniques screen a single potential cancer-causing gene at a time. The efficiency of his system is validated by discovering several new potential targets for treating BLBC. This is a pivotal step in understanding breast cancer as it greatly improves upon existing methodologies by saving both time and money in the identification of important cancer-driving genes. In combination with conventional tumor-suppressing gene therapy, identification of specific cancer-causing genes allows for highly targeted therapeutic approaches.

While mouse models are suitable for initial experiments, Dr. Al-Zahrani will carefully evaluate further findings in human patient samples. His innovative progress has the potential to uncover new effective cancer treatments and improve the clinical prognosis of basal-like breast cancer.

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The NRC HL Holmes Award supports the development of technology to target and treat basal-like breast cancer - National Research Council Canada -...

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Twenty-one million. Thats the number of genetic variations in the human genome that researchers are sifting through to identify patterns predisposing people to Alzheimers disease.

Thanks to international collaboration being advanced by faculty of The University of Texas Health Science Center at San Antonio, also known as UT Health San Antonio, more genetic variations for Alzheimers disease are known today than ever before. The list of gene variants recognized for late-onset Alzheimers grew from one in 2009 to 40 in 2022 and, this spring, scientists published an expanded list of 75, some of which are considered prime drug targets.

Its a huge haystack, and Alzheimers-related genetic variations, like needles, are miniscule in comparison. Dr. Sudha Seshadri, Habil Zare, Ph.D., and other faculty at the UT Health San Antonio Glenn Biggs Institute for Alzheimers and Neurodegenerative Diseases are investigators on a global project to help answer many of Alzheimers riddles.

Seshadri is a founding principal investigator of the International Genomics of Alzheimers Project, or IGAP. Biggs Institute faculty contributed data for the newest research from IGAP, published in Nature Genetics, and helped craft worldwide discussion on implications of the findings.

Genomic data of half a million people were used in this latest IGAP study, including 30,000 people with confirmed Alzheimers disease and 47,000 people categorized as proxies.

In Alzheimers disease research you need many samples, because some of these variants are very rare, and if you want to detect them, you need to study many, many people, said Zare, assistant professor of cell systems and anatomy in the Joe R. and Teresa Lozano Long School of Medicine and an expert in computational biology and bioinformatics. The only way to get there is through collaboration between centers and consortia, and IGAP was established for such kind of collaboration.

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We are looking for the genetic basis so as to better understand all the different types of biology that may be responsible for Alzheimers disease, said Seshadri, founding director of the Biggs Institute and professor of neurology in the Long School of Medicine. As we include data from more and more people, we are able to find variants that are fairly rare, that are only seen in about 1% of the population.

In 2009, the year of the first genome-wide association studies, researchers knew of one gene, called APOE, associated with late-onset Alzheimers disease. Before journal publication on April 4, 2022, researchers had a list of 40 such genes. This new paper confirmed 33 of them in a larger population sample and added 42 new genetic variants not described before.

The study published in Nature Genetics is confined to certain people groups, which makes it impossible to generalize the gene variations worldwide.

One of the challenges with this paper, as well, is it is largely in persons of European ancestry, Seshadri said. So we hope to bring, over the next few years, a much larger sample of Hispanic and other minority populations to further improve gene discovery.

The South Texas Alzheimers Disease Research Center (ADRC), a collaboration of the Glenn Biggs Institute at UT Health San Antonio and The University of Texas Rio Grande Valley, is on a mission to bring the regions sizable Hispanic population into genetic studies and other initiatives such as clinical trials. ADRCs are National Institute on Aging Centers of Excellence.

Older Hispanic adults are estimated to be at 1.5 times greater risk of Alzheimers and other dementias than non-Hispanic whites. Dementia is costing individuals, caregivers, families and the nation an estimated $321 billion in 2022, according to the Alzheimers Association.

As the quest to end the suffering endured by individuals and families continues, the researchers acknowledge the partners who play significant roles.

We would like to thank each of the collaborators within IGAP, and all the patients and families that join such studies, and the National Institute on Aging, which is our funder, Seshadri said.

Read about this research findingthat increases the worlds knowledge of Alzheimers disease and sparks drug potential.

The Glenn Biggs Institute for Alzheimers and Neurodegenerative Diseases at UT Health San Antonio is a National Institute on Aging-designated Alzheimers Disease Research Center dedicated to providing comprehensive dementia care while advancing treatment through clinical trials and research.

UT Health San Antonio, South Texas largest research university, has an annual research portfolio of $350 million and a Department of Education designation as a Hispanic-Serving Institution. Its Long School of Medicine is listed among U.S. News & World Reports best medical schools, ranking in the top 30% nationwide for research.

Learn more about how UT Health San Antonio does everything it takes to make lives better.

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UT Health San Antonio on global team discovering Alzheimers clues - San Antonio Report

As a child, geneticist Beth Burton wanted to be a music teacher. At age 6, she started playing piano and later spent years accompanying school choirs in her hometown of Wilmington, Delaware.

But in high school, she took her first biology class, and she was hooked.

More than a decade later, Burton now studies the genetic causes of Alzheimers disease as a Ph.D. candidate in the Perelman School of Medicine. But pivoting to science didnt mean abandoning her art; she earned a bachelors degree in piano and still practices often.

Now in her fourth year, Burton moves through grad school without compromising her love for music, her creativity, or any of the other traits that she says define her. In doing so, she says she hopes to inspire others as she finds her own path to success.

Not long after that first influential biology course, Burton was diagnosed with Ehlers-Danlos syndrome, a genetic disorder that affects the development and function of collagen and can lead to joint pain and digestive issues. Its a rare condition, not well understood and currently without a cure.

The diagnosis only deepened Burtons interest in biology and genetics. Alongside her degree in piano, Burton pursued a bachelors degree in biochemistry and molecular biology at Gettysburg College. Within her first year, she developed an interest in genetic research, so she applied to the Childrens Hospital of Philadelphia Research Institutes Summer Scholars Program.

There she began working with Struan Grant, a professor of pediatrics who researches the genetic causes of disease and disorder. Her experience in Grants lab the summer before sophomore year confirmed that she had made the right choice. I just loved the culture; I loved how collaborative everyone was, says Burton. I had a fantastic 10 weeks in lab.

She returned the next summer. And the summer after that.

When she finally graduated from Gettysburg in May 2018, she knew that she wanted to pursue a Ph.D. in genetics and to do it at Penn. That fall, she started at the Perelman School of Medicine. During her first year, she spent some time in the lab of Christopher Brown, a professor of genetics who, like Grant, researches how mutations in certain genes may cause disease. Together, the three of them developed a new project that would use genetics to understand the causes of Alzheimers disease.

Alzheimers is the sixth leading cause of death in the United States and the only one in the top 10 without a cure or effective treatment. By studying differences in the genes of people with and without Alzheimers, Burton wants to help change that.

In order to do so, she heads to the lab. She takes microglia, the brains immune cells, with the genetic variations for Alzheimers, then edits out a variation of interest. By observing the differences between the edited and unedited cells, Burton can determine whether the genetic variation was implicated in Alzheimers, offering potential targets for drugs and treatments in the long term.

For now, Burton is still on the hunt, narrowing her search to a few sections of DNA that she has strong evidence are associated with causing Alzheimers. Even at this stage, Grant says that the methods Burton has developed to connect genes to disease might work for all kinds of genetic health issues, from diabetes and obesity to sleep and bone disease.

What we learn from her deep dive on a particular genetic signal will really inform research beyond Alzheimers, says Grant.

Even while investigating the causes of the disease, Burton has refused to let unique aspects of herself take a back seat. In her day-to-day and on social media, Burton is vocal about her experience with Ehlers-Danlos syndrome. In part, this serves as a gentle nudge to peers in the scientific community. Scientists want to help, but it can be so easy to just talk about genetic disorders in scientific jargon and forget that were studying things that affect real people, says Burton. Im one of those real people.

Burton says she hopes that being open about her own struggles might help others believe that they have a place in science regardless of their physical limitations.

For similar reasons, Burton speaks freely about her identity as a bisexual woman. Burton says she knew from a young age that she wasnt only attracted to boys, but didnt make sense of what that meant until college, when she encountered people like her who identified as bisexual.

Seeing those people out and open with their experiences is what helped me to figure out my identity, she says. If I can be that person for someone else, that would make it all worth it.

After finishing her Ph.D., Burton plans to pursue a postdoctoral fellowship. Ultimately, she wants to become a professor in genetics and run a research lab.

While working toward her professional goals, Burton plans to enjoy the rest of her time at Penn doing what she loves: Spending time with friends, petting her rabbit, Mr. Penguin, and unwinding at the piano, a passion that influenced her time in lab, Grant says. Beth is very artistic. She cant help but bring her creativity to research.

Often, after a long day in lab, Burton goes back home and sits at the piano, where she can turn back to her first love.

At night, I can just play whatever, she says. The music has given me a lot.

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Identities in harmony | Penn Today - Penn Today

ReportLinker

Genotyping is a technique used to detect minor genetic abnormalities that can contribute to significant phenotypic changes, such as physical distinctions that distinguish individuals from one another and pathological changes that underpin disease.

New York, July 04, 2022 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Genotyping Market Size, Share & Industry Trends Analysis Report By Product, By Application, By End Use, By Technology, By Regional Outlook and Forecast, 2022 2028" - https://www.reportlinker.com/p06289249/?utm_source=GNW It has a wide range of applications in basic science, medicine, and agriculture.

By comparing DNA sequences to other sequences, the genotyping test is a widely used method for identifying DNA sequence and genetic composition. Modern genotyping assays include several key properties, such as high efficiency, operational flexibility, and accessibility to several parameters in a single test. Increased funding by governments of various nations to promote genotyping assay methodologies, increased cases of chronic and genetic disorders around the world.

Genetic mutations such as single nucleotide variants, copy number variants, and major structural alterations in DNA can all be investigated through genotyping. On a molecular level, high-throughput genomic technologies like next-generation sequencing (NGS) and microarrays can provide a better knowledge of disease etiology. Genotyping data analysis systems may examine results for thousands of indicators and probes and identify sample abnormalities, revealing the functional implications of genetic diversity.

In the medical field, genotyping is used to diagnose to prevent the spread of tuberculosis (TB). Initially, genotyping was only used to verify tuberculosis pandemic but, with the advancement of genotyping technology, it can now accomplish much more. Due to advances in genotyping technology, it was discovered that in various tuberculosis cases, infected individuals living in the same house, were not genuinely linked. Due to socio-epidemiological aspects, universal sequencing revealed complex transmission dynamics. As a result, polymerase chain reactions (PCR) were developed, allowing for speedier tuberculosis testing. This approach of quick detection is utilized to avoid tuberculosis. Whole-genome sequencing (WGS) enabled the identification of TB strains, which could subsequently be placed on a historical cluster map.

COVID-19 Impact

Technological developments, the rising prevalence of cancer and genetic abnormalities, and increased R&D investment for precision medicine research are all contributing to the expansion. Furthermore, the COVID-19 pandemic had a favorable impact on the genotyping market, as increased demand for COVID-19 genotyping kits resulted in the pandemic. The pandemic of COVID-19 has had an enormous influence on the Genotyping business. SNP genotyping is being used to detect SARS-CoV-2 variations, which is increasing market growth. For example, Helen Harper et al. discovered that PACE (PCR Allele Competitive Extension) SNP genotyping techniques provide useful viral genotype detection for SARS-CoV-2 positive samples in a paper published in the PLOS ONE Journal in February 2021.

Market Growth Factors

DNA Sequencing Prices are Decreasing Due to Technological Advances

Miniaturization, automation, and lower total costs of DNA sequencing have all been enabled by technological improvements, as well as increased flexibility and the introduction of multi-parameter testing. This has aided in expanding the uses and accessibility of DNA sequencing, allowing clinicians to concentrate on higher-level decisions such as selecting and prioritizing therapeutic targets through various genotyping studies. This has enhanced the use of PCR, sequencing, capillary electrophoresis, and microarrays in domains including drug development and clinical research. Researchers have been able to take use of the most modern technology improvements in SNP identification due to their ability to find vast numbers of SNP markers.

Increased Genotyping Application Areas

Pharmacogenomics, diagnostic research, personalized medicine, and forensics are all potential uses for genotyping platforms. This technique is also suitable for a variety of veterinary applications, food hygiene, and atmospheric testing in distant places and industrial settings. Human diagnostics and pharmacogenomics now have substantial marker potential since these segments require large-scale genotyping analysis due to the need for better treatment choices and the high prevalence of the disease. NGS is being adapted for this purpose, with businesses like QIAGEN and Freenome (US) collaborating to create NGS-based assays for precision medicine.

Market Restraining Factors

The High Cost of Genotyping Equipment

The devices required for genotyping testing are costly, and their installation involves a large capital outlay. The qPCR systems range in price from USD 20,000 to USD 30,000, whereas dPCR systems range from USD 65,000 to USD 70,000 for manual dPCR and USD 100,000 for automated dPCR. NGS sequencers range in price from $19,900 to $1 million. The NovaSeq 5000 and NovaSeq 6000 sequencers from Illumina are priced at around USD 850,000 and USD 985,000, respectively. Genotyping instruments have a lot of advanced features and functions, hence theyre expensive. Pharmaceutical companies and research institutes require a big amount for the installation of these systems, which necessitates large investments in a large amount of high genotyping machines.

Product Outlook

Based on Product, the market is segmented into Reagents & Kits, Instruments, and Software & Services. The software & service segment recorded a substantial revenue share in the genotyping market in 2021. Due to the increased usage of software-based solutions by testing facilities and academic institutions, the software & services segment is expected to grow at a high rate. Bioinformatics enhances overall efficacy of sequencing procedures and aids in the avoidance of errors that might occur with standard sequencing methods. Agri genomics, animal livestock, human diseases, and microbes all benefit from these services.

Application Outlook

Based on Application, the market is segmented into Diagnostics & Personalized Medicine, Agricultural Biotechnology, Pharmacogenomics, Animal Genetics, and Others. The Diagnostics & Personalized segment acquired the highest revenue share in the genotyping market in 2021. It is because of the expanding usage of genotyping products for investigation and the growing need for the identification of genetic illnesses, diagnostics and personalized medicine hold the largest proportion of the genotyping market. Personalized medicine involves the integration of genetic, molecular, and environmental variability into existing approaches to knowledge and management of illnesses.

End Use Outlook

Based on End Use, the market is segmented into Diagnostics & Research Laboratories, Pharmaceutical & Biopharmaceutical Companies, Academic Institutes, and Others. The Pharmaceutical & Biopharmaceutical segment witnessed a significant revenue share in the genotyping market in 2021. Increasing importance of pharmacogenomics in drug development, as well as FDA recommendations for pharmacogenomics investigations and genotyping in the drug discovery process, Pharmacogenomics is being used by companies to produce new medications. For example, Pfizer is studying the efficacy of Talazoparib in patients with somatic BRCA mutation-resistant metastatic breast cancer in a genotyping-based clinical trial.

Technology Outlook

Based on Technology, the market is segmented into PCR, Sequencing, Capillary Electrophoresis, Microarray, Mass Spectrometry, and Others. The PCR segment garnered the highest revenue share in the genotyping market in 2021. It is due to the Adoption of advanced diagnostic techniques is developing, as is the number of CROs, forensic and research laboratories, along with the prevalence of diseases including chronic diseases and genetic disorders. The typical approach for genetic analysis, polymerase chain reaction, is used in PCR genotyping. After amplifying DNA or RNA sequences using specified primers and electrophoresis to check for size and quality, they can be isolated and purified.

Regional Outlook

Based on Regions, the market is segmented into North America, Europe, Asia Pacific, and Latin America, Middle East & Africa. The North America segment garnered the largest revenue share in the genotyping market in 2021. The growing use of advanced technologies, the presence of large pharmaceutical and biopharmaceutical businesses, proactive government policies, and advancements in healthcare infrastructure. Another important aspect contributing to the regions strong market share is the presence of big businesses and authorities investing in genotyping.

The market research report covers the analysis of key stake holders of the market. Key companies profiled in the report include F. Hoffmann-La Roche Ltd., Danaher Corporation, Agilent Technologies, Inc., Thermo Fisher Scientific, Inc., Qiagen N.V., Illumina, Inc., Bio-Rad Laboratories, Inc., Eurofins Scientific Group, and Fluidigm Corporation.

Strategies deployed in Genotyping Market

Jan-2022: Eurofins Scientific completed the acquisition of Genetic Testing Service JSC, a leading enterprise in genetic testing in Vietnam. This acquisition aimed to improve Eurofins expansion in Asia and achieve its global network of clinical diagnosis laboratories concentrated on advanced and specialized genetic testing. Additionally, Gentis has a highly effective test and product menu, which would asset from the Eurofins networks broad catalog of genomic and genetic tests and its approach to additional industries.

Jan-2022: Illumina signed a definitive co-development agreement with SomaLogic, a protein biomarker discovery and clinical diagnostics company. Through this agreement, the companies aimed to launch SomaScan Proteomics Assay within Illuminas active & future growth bandwidth next-generation sequencing platforms. Additionally, Illumina would start a multi-year advancement attempt to combine SomaLogics protein objective volume with Illuminas arranging technologies, DRAGEN, and informatics toolsets software to generate a complete end-to-end NGS functionality solution.

Aug-2021: Thermo Fisher Scientific introduced a TaqMan SARS-CoV-2 Mutation Panel to identify the Delta and Lambda strains. The advanced biosystem allows laboratories to record known mutations by choosing from more than 50 assays intended to screen for various variants. Additionally, the biosystem is extremely ascendable, permitting up to hundreds of samples to be tested to recognize one or various mutations so labs can measure observation tasks based on testing requirements.

Apr-2021: Bio-Rad Laboratories unveiled the ddPCR Assays for AAV Viral Titer and the Vericheck ddPCR Mycoplasma Detection Kit. The two assays support the production and advancement of safe and adequate cell and gene treatments. Moreover, ddPCR product offerings in the gene and cell treatment space reverse overall dedication to informing the global requirement for effective and safe healing.

Oct-2020: Bio-Rad Laboratories unveiled CFX Opus 384 and CFX Opus 96 along with BR.io, a cloud-based data management, instrument connectivity, and analysis platform. The Real-time PCR Systems portray the next generation of the enterprise CFX Real-Time PCR Systems that utilized in analysis and genomic testing along with pathogen observation and contagious disorder diagnosis.

Jan-2020: Roche teamed up with llumina, the global leader in DNA sequencing and array-based technologies. Under this collaboration, the company aimed to widen the adaptation of distributable next-generation sequencing-based testing in oncology. Additionally, Illumina would allow Roche the privilege to distribute and develop in-vitro diagnostic trails on Illuminas NextSeq 550Dx System, along with its future offering of diagnostic sequencing systems, containing the impending NovaSeqDx.

Jan-2020: Thermo Fisher Scientific introduced Axiom Propel, activated Biosystems for Genotyping workflow. The solution developed to enable laboratories to ramp up quickly by reducing the requirements for the various liquid manager and decreasing running prices through the use of recyclable allocating cassettes and minimum labware.

Dec-2018: Illumina introduced the Infinium Global Diversity Array, a new dept genotyping array. The Infinium would be a high-density chip developed to allow the accomplishment of the main genotyping focused objective of the project.

Sep-2018: Danaher Corporation completed the acquisition of Integrated DNA Technologies, a privately-held supplier of high-value consumables for genomics applications. Under this acquisition, the company aimed to expand its existence into the highly appealing genomics industry and would help play a central role in boosting consumer research and time to market as they design crucial diagnostic tests and conceivable life-saving treatments.

Mar-2018: QIAGEN joined hands with Natera, a clinical genetic testing company. This collaboration aimed to design advanced, cell-free DNA assays to utilize on QIAGENs GeneReader NGS System. Additionally, cell-free DNA assays would be advanced to leverage on the GeneReader NGS System, the first completely combined specimen to Insight NGS solution, and developed to allow tests, such as prenatal screening, for laboratories and hospitals across the world.

Scope of the Study

Market Segments covered in the Report:

By Product

Reagents & Kits

Instruments

Software & Services

By Application

Reagents & Kits

Instruments

Software & Services

By End Use

Diagnostics & Research Laboratories

Pharmaceutical & Biopharmaceutical Companies

Academic Institutes

Others

By Technology

PCR

Sequencing

Capillary Electrophoresis

Microarray

Mass Spectrometry

Others

By Geography

North America

o US

o Canada

o Mexico

o Rest of North America

Europe

o Germany

o UK

o France

o Russia

o Spain

o Italy

o Rest of Europe

Asia Pacific

o China

o Japan

o India

o South Korea

o Singapore

o Malaysia

o Rest of Asia Pacific

LAMEA

o Brazil

o Argentina

o UAE

o Saudi Arabia

o South Africa

o Nigeria

o Rest of LAMEA

Companies Profiled

F. Hoffmann-La Roche Ltd.

Danaher Corporation

Agilent Technologies, Inc.

Thermo Fisher Scientific, Inc.

Qiagen N.V.

Illumina, Inc.

Bio-Rad Laboratories, Inc.

Eurofins Scientific Group

Fluidigm Corporation

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The Global Genotyping Market size is expected to reach $30.9 billion by 2028, rising at a market growth of 14.7% CAGR during the forecast period -...