Category Archives: Genetic medicine

Carmen Guerra, LDI Senior Fellow and Vice Chair of Diversity and Inclusion in the Perelman School of Medicines Department of Medicine warned of health care disparities driven by the limitations of some genetic-based immunological drugs.

As a panelist at the White House Minority Health Forum, LDI Senior Fellow Carmen Guerra, MD, MSCE, warned of the equity implications of genetic-based immunological drugs that are dependent on a genetic element that is prominent in white populations but not in other populations.

Guerra is Vice Chair of Diversity and Inclusion in the Perelman School of Medicines Department of Medicine and Associate Director of Diversity and Inclusion at the University of Pennsylvanias Abramson Cancer Center. As a nationally recognized expert in the field of health and health care disparities, she was invited to be a panelist on the White House Office of Science and Technology Policys inaugural White House Minority Health Forum.

The event was organized to recognize National Minority Health Month and to highlight progress, discuss challenges, and identify actions that the federal government and private sector can take to improve health outcomes and reduce health inequities for racial and ethnic minority communities across the country.

Setting the tone of the forum sessions, Director of the Office of Science and Technology Policy Arati Prabhakar said, Our health outcomes in America are simply unacceptable for the richest country in the world and that is especially true in our ethnic minority communities and our racial minority communities.

Guerra was a panelist in the Research Innovation for Health Equity session moderated by Cameron Webb, MD, JD, Director of Health Policy and Equity at the University of Virginia School of Medicine and former senior advisor to the White House Covid-19 Response Team.

He asked Guerra, What are we missing in our current paradigm in terms of how to effectively study how to create opportunities for everybody to achieve their best health?

One area is genomic data and how it lacks representation for all groups, said Guerra. Another example is the immunotherapy field that is exploding with new groups of therapies for many diseases, including cancer. Some really interesting recent research shows that many of the targeted immunological therapies being developed rely on a specific HLA allele that is actually very prominent in most white populations in the Americas and Europe but doesnt represent the rest of the population of the world.

She said that racial health disparity is going to get worse because about 80% of the therapies now being studied are specific for that allele in Anglo populations.

An HLA allele is a variant form of a gene within the human leukocyte antigen (HLA) system involved in regulating the immune system. A recent commentary in the Journal for ImmunoTherapy of Cancer titled Ensuring Equity in the Era of HLA-Restricted Cancer Therapeutics, noted that a new melanoma-targeting drug approved in 2022 by the U.S. Food and Drug Administration is dependent on an HLA allele whose expression varies considerably among ethnic groups. It is most frequently expressed in Europeans, and less commonly in African Americans and people of Asian or Pacific Island ancestry. We advocate for proactive consideration of the populations eligible for each HLA-restricted therapeutic in development to ensure this emerging therapeutic class does not compound long-standing health disparities.

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How the Hidden Mechanics of Genetic Medicines Can Disadvantage Non-White Individuals - Leonard Davis Institute

Competing interests

J.M.Y.P. is an associate at Atlas Venture. J.V. is a co-founder of EveryONE Medicines and the N=1 Collaborative. W.X.Y. is a founder, employee and shareholder of Arbor Biotechnologies. A.W.L. reports personal investments in private biotechnology companies, biotechnology venture capital funds and mutual funds; is a co-founder and principal of QLS Advisors LLC, a healthcare investments advisor, and QLS Technologies LLC, a healthcare analytics and consulting company; a director of AbCellera, Annual Reviews, Atomwise, BridgeBio Pharma, Uncommon Cures and Vesalius Therapeutics; an advisor to Apricity Health, Aracari Bio, BrightEdge Impact Fund, Enable Medicine, FINRA, Health at Scale, MIT Proto Ventures, Quantile Health, Roivant Social Ventures, Swiss Finance Institute, Thals, Think Therapeutics and xCures; and during the most recent 6-year period has received speaking/consulting fees, honoraria, or other forms of compensation from AbCellera, AlphaSimplex, Annual Reviews, Apricity Health, Aracari Bio, Atomwise, Bernstein Fabozzi Jacobs Levy Award, BridgeBio, Cambridge Associates, CME, Enable Medicine, Journal of Investment Management, Lazard, MIT, New Frontier Advisors, Oppenheimer, Princeton University Press, Q Group, QLS Advisors, Quantile Health, Research Affiliates, Roivant, SalioGen Therapeutics, Swiss Finance Institute, Think Therapeutics, Vesalius Therapeutics and WW Norton. T.W.Y. has received research funding from EveryOne Medicines, has served as a scientific consultant to Biomarin and Servier Pharmaceuticals, is a board member of the Oligonucleotide Therapeutics Society and serves as a volunteer scientific advisor to several nonprofit rare disease foundations. J.M.Y.P., J.V., T.W.Y. and W.X.Y. are volunteers with the N=1 Collaborative, a non-profit organization.

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How to pay for individualized genetic medicines - Nature.com

Sarepta Therapeutics (NASDAQ: SRPT) is leading the game in precision genetic medicine and biotechnology. Sarepta Therapeutics' stock price has witnessed a surge of over 40% after receiving expanded FDA approval for its Duchenne muscular dystrophy (DMD) gene therapy, Elevidys. This pivotal decision marks a turning point in treating this debilitating disease and underscores Sarepta's commitment to developing groundbreaking therapies for rare diseases.

Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration and weakness. Primarily affecting boys, DMD is caused by mutations in the DMD gene, which provides instructions for creating dystrophin, a protein crucial for maintaining muscle cell structure and function. The absence of functional dystrophin leads to progressive muscle wasting, loss of mobility, and, ultimately, life-threatening complications. With an estimated incidence of 1 in 3,500 male births worldwide, DMD presents a significant unmet medical need, making the development of effective therapies an urgent global health priority.

Founded in 1980, Sarepta Therapeutics has emerged as a pioneer in genetic medicine, particularly in developing therapies for DMD and other rare neuromuscular disorders. Driven by a mission to engineer precision genetic medicines that transform patients' lives, Sarepta has built a diverse and robust pipeline of over 40 programs. The company's innovative approach is powered by its multi-platform Precision Genetic Medicine Engine, which encompasses cutting-edge gene therapy, RNA technology, and gene editing technologies. This strategic focus has enabled Sarepta to become a leader in developing targeted therapies for previously untreatable diseases.

Elevidys is a single-dose, adeno-associated virus (AAV)-based gene therapy administered via intravenous infusion. It addresses the underlying genetic cause of DMD by delivering a functional version of a shortened dystrophin gene (micro-dystrophin) directly into muscle cells. This innovative approach aims to enable the production of essential dystrophin protein, potentially slowing or halting the progression of muscle degeneration.

The FDA's recent decision to expand Elevidys' approval represents a significant milestone for Sarepta and the DMD community. Initially granted accelerated approval for ambulatory DMD patients aged 4 and 5 in 2023, Elevidys is now approved for all DMD patients aged four and above, regardless of ambulatory status. This expanded label encompasses two key distinctions: traditional approval for ambulatory patients and accelerated approval for non-ambulatory patients.

Based on robust clinical data demonstrating Elevidys' efficacy in improving muscle function in ambulatory patients, the traditional approval reinforces the therapy's value proposition. The accelerated approval, granted for non-ambulatory patients, recognizes the critical need for treatment options for this patient population, with continued approval contingent on confirmatory clinical trials.

Sarepta's earnings report for Q1 2024 highlights Elevidys's transformative impact on the company's growth trajectory. The company reported a 55% year-over-year increase in net product revenue, reaching $359.5 million, with Elevidys generating an impressive $133.9 million in net revenue during the quarter. Since its initial approval, Elevidys has achieved cumulative sales surpassing $334 million, surpassing the combined performance of other gene therapies approved in recent years.

Sarepta's financial performance is further reflected in its profitability, with GAAP earnings of $36.1 million and non-GAAP earnings of $78.2 million reported for Q1 2024. These positive financial indicators demonstrate Elevidys's significant commercial potential and underscore Sarepta's successful execution of its strategic vision.

In anticipation of increased demand for Elevidys, Sarepta has undertaken strategic initiatives to bolster its operational capabilities. The company recently announced hiring nine new employees, signaling its commitment to expanding its manufacturing, commercialization, and research activities. These strategic investments reflect Sarepta's proactive approach to ensuring it can meet the anticipated surge in demand for Elevidys following its expanded approval.

Sarepta Therapeutics presents a compelling investment opportunity for investors seeking exposure to the rapidly evolving field of genetic medicine and the pharmaceutical sector. The company's dominant position in the DMD market, driven by the expanded approval of Elevidys and its robust pipeline of innovative therapies, positions it for sustained growth. Sarepta's strong financial performance, including impressive revenue growth and profitability, further strengthens its investment appeal.

However, investors should carefully consider the inherent risks associated with biotech investments. Regulatory hurdles, competition within the gene therapy landscape, and the volatility inherent to the industry are factors that could impact Sarepta's future performance.

The FDA's expanded approval of Elevidys marks a pivotal moment for Sarepta Therapeutics and the DMD community. The company's commitment to developing groundbreaking therapies positions it as a frontrunner in the race to conquer rare diseases. As Sarepta continues to innovate and expand access to its life-changing therapies, it holds the potential to deliver substantial value to patients and investors.

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Sarepta Therapeutics Stock Soars on FDA Approval - sharewise

image:

Model showing the interaction between a portion of the AFF3 protein (in white) and ubiquitin ligase (in green and gold), the protein that regulates its degradation. Amino acids mutated in KINSSHIP syndrome patients are shown as yellow atoms. The ubiquitin ligase amino acids with which they interact are depicted as colored atoms.

Credit: Nicolas Guex UNIL

New research from the University of Lausanne reveals that both the excess and the deficiency of a single protein can lead to severe intellectual deficiencies. The discovery offers critical insights for early diagnosis of a rare developmental disorder.

A team of scientists led by Alexandre Reymond, an expert in human genetics at the Center for Integrative Genomics (CIG) and professor at the Faculty of Biology and Medicine (FBM) of the University of Lausanne (UNIL), presents a major step forward in the detection of a rare genetic disease. For the first time, the authors show that both the accumulation and the deficiency of the so-called AFF3 protein are detrimental to development. The research, published in Genome Medicine, follows on from the groups 2021 discovery of the KINSSHIP syndrome, caused by mutations in the AFF3 gene and resulting in intellectual disability, an increased risk for epilepsy, kidney malformations, and bone deformation in affected children.

Discovery of the genetic cause of KINSSHIP syndrome

KINSSHIP syndrome affects about thirty individuals worldwide. As a result, there are few documented cases and understanding of the disease remains limited, making early and accurate diagnosis challenging. In our previous study we demonstrated that this pathology resulted from an abnormal accumulation of the AFF3 protein. Meanwhile, available genetic data from individuals of the general population suggested that a lack of this same protein could be similarly deleterious", explains Dr. Sissy Bassani, a postdoctoral researcher in Professor Reymond's team and the lead author of the current study.

Large genome database points researchers to a new hypothesis

The geneticists formulated their hypothesis using gnomAD, a database containing genome sequences from several hundred thousand unrelated individuals. By mining the available data for AFF3 variants, the scientists found that loss-of-function mutations in this gene are rare, indicating their likely harmful nature. This implies that this gene plays a critical role and that its loss likely has detrimental consequences for the organism. To test their hypothesis, the authors searched for individuals with only one copy of the gene, instead of the two normally present in the human genome. Collaborating with researchers from nine different countries across Europe and North America, they identified 21 patients with such an anomaly. They all showed similar but less severe symptoms than those of KINSSHIP syndrome patients.

Experiments reveal the developmental impact of AFF3 gene mutations

To demonstrate that both insufficient and excessive amounts of AFF3 are detrimental, the researchers used several different experimental systems: cells of patients, mice, and zebrafish. Artificially decreasing or increasing the protein quantity in zebrafish eggs revealed major developmental defects in the resulting fish embryos. "These results confirm that a precise amount of AFF3 is crucial for proper embryonic development and that mutations affecting its function and/or dosage cause severe malformations", concludes Prof. Reymond.

Impact for prenatal diagnostics

The authors findings are an important advancement for the diagnosis of this rare disorder, as testing for AAF3 mutations during fetal development could improve early detection of these gene defects.

Experimental study

People

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

30-May-2024

Annabelle Tuttle, Houda Zghal Elloumi and Chaofan Zhang are employees of GeneDx and Desiree DeMille works for ARUP Laboratories. James R. Lupski has stock ownership in 23andMe and is a paid consultant for Genome International. Claudia M.B. Carvalho provides consulting service for Ionis Pharmaceu ticals. The other authors have no competing interests to declare.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Too much or too little: The impact of protein dosage on development - EurekAlert

GENEVA (AP) UN member countries on Friday concluded a new treaty to help ensure that traditional knowledge about genetic resources, like medicines derived from exotic plants in the Andes mountains, is properly traced.

It marks the first time the 193 member states of the UN's World Intellectual Property Organization have reached agreement on patent protections about historic knowledge from indigenous cultures, which have long been exploited by colonists, traders and others.

The treaty doesn't address compensation to indigenous communities for their historic expertise about products drawn from things like from tropical plants.

But the accord is seen as an important first step. It requires patent applicants, like foreign entrepreneurs or international companies, to specify where they got ideas about what goes into their products, especially inputs drawn from the knowledge of indigenous or local peoples.

Daren Tang, the organization's director-general, said the agreement showed that "multilateralism is alive and well at WIPO."

"Today we made history in many ways," he said. "Through this, we are showing that the IP system can continue to incentivize innovation while evolving in a more inclusive way, responding to the needs of all countries and their communities."

The WIPO Intellectual Property, Genetic Resources and Associated Traditional Knowledge treaty, reached by consensus after more than two decades in the making, will take effect as international law after 15 countries adopt it.

The agreement centers on genetic resources like medicinal plants, crops from farms and some animal breeds. It will not be retroactive, meaning that it's only applicable to future discoveries, not past ones.

WIPO's rules don't allow for intellectual property protection of natural or genetic resources themselves but do help to safeguard inventions by people that put those resources to work for humankind, whether historically or recently.

The deal will, for example, require companies in industries like fashion, luxury goods and pharmaceuticals to specify the origin of the plant-based chemicals in medicines or plants in skin creams that they use for their products, if drawn from local knowledge.

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UN treaty to look at indigenous medicine, genetic resources in patents | Loop St. Lucia - Loop News St. Lucia

BERKELEY, Calif.--(BUSINESS WIRE)-- Radar Therapeutics, a biotech company developing smart programmable medicines, today announced the completion of an oversubscribed $13.4 million in seed financing led by NfX Bio. Major investors Eli Lilly and Company, Biovision Ventures, and KdT Ventures also joined the round, with participation from PearVC, BEVC and other investors. The financing will support advancement of Radars internal programs, team expansion and partnering.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20240523395742/en/

Radar Therapeutics founders Sophia Lugo, CEO and Eerik Kaseniit, PhD, CSO & President. Photo credit: Radar Therapeutics

Current genetic medicines, including mRNA therapeutics, are not targeted and typically rely on cell surface proteins to confer targeting, which limits application. This often means that ex vivo cell therapies, where genetic material is introduced outside of the body, have to be used.

Radar is developing programmable genetic and mRNA-based therapeutics that use RNA sensors mRNAs that gate their expression based on other RNAs in the cell for specific payload expression to deliver targeted, timed delivery of the drug payload into the right cells at the right time. Controlled translation of the mRNA therapy avoids systemic toxic side-effects in non-target cells. The RADAR platform enables "smart," rationally designed precision therapeutics.

With Radars technology, we can now precisely alter the biology of the cell, delete harmful cells, or potentially reprogram cells for autoimmune diseases. This has the potential to enable a new generation of safer, more durable and effective mRNA therapeutics for applications beyond vaccines, said synthetic biology pioneer Jim Collins, Ph.D., Co-Founder at Radar Therapeutics and the Termeer Professor of Medical Engineering & Science and Professor of Biological Engineering at MIT.

Creating genetic expression-regulation systems that operate at the level of translation while being programmable to ensure compatibility with next-generation mRNA-based medicines has been a long-lived dream, said Xiaojing Gao, Ph.D., Associate Professor of Chemical Engineering at Stanford and Radar Co-Founder.

Like a safety switch, our payload is always off, and only gets turned on in the right cell, said Sophia Lugo, CEO & Co-Founder, Radar Therapeutics. We can selectively write a function into any cell type. Programmable mRNA-based therapies have the potential to be in vivo, scalable and modular, to improve patient access. Were thrilled to have the support of these top-tier investors as we advance our preclinical programs.

Unlike approaches using microRNAs to turn payload expression off in predefined cells, Radar's technology enables the activation of protein expression in desired cells, said Eerik Kaseniit, Ph.D., Chief Scientific Officer & Co-Founder, Radar Therapeutics. Were leveraging the explosion in single-cell transcriptomic data, and advances in our understanding of RNA-editing enzymes such as ADAR, to design simple switches to create smart mRNA therapies. Weve assembled a world class team to push the platform towards product and are excited to use these funds to grow the team further.

Radar's focus on full transcriptomic analysis sets them apart from traditional targeting methods that rely solely on cell surface markers, said Omri Drory, PhD, Partner, NfX Ventures. By leveraging a broad dataset offered by single-cell transcriptomics, Radar can precisely identify cellular signatures and engineer programmable therapies accordingly, offering unparalleled specificity to avoid off-target effects.

A publication in Nature Biotechnology describes the design of a highly specific, compact sensor sequence to the driver RNAs or disease markers of a cell of interest, including a stop codon in front of the mRNA payload. In non-target cells without the marker RNAs, the payload is not expressed due to the stop codon, which prevents ribosomal translation. In target cells, the stop codon is selectively removed through interactions with cell-type-defining marker RNAs.

Radar Therapeutics is advancing this technology even further by developing a proprietary methodology that only uses endogenous enzymes to achieve high expression levels, which is a significant advancement in the field of RNA editing, as it will potentially enable the development of safer, more effective, and cost-efficient therapies for various diseases.

The companys scientific advisory board includes: Xiaojing Gao, Ph.D., Co-Founder, James J. Collins, Ph.D., Co-Founder, David Schaffer, PhD., Eric Klein, M.D., and Svetlana Lucas, PhD.

Radar has received a number of industry awards including: Abbvie Golden Ticket, J&J West Coast Cell and Gene Therapy Symposium "Judge's Choice" award, and an Amgen Diversity, Inclusion and Belonging Award.

About Radar Therapeutics

Radar Therapeutics is a biotech company developing programmable precision therapeutics. Leveraging innovative mRNA technology and proprietary regulatory control elements, the company aims to revolutionize medicine by enabling targeted, timely, and controlled therapeutic interventions. Radar is committed to advancing the boundaries of genetic medicine to address unmet medical needs and improve patient access. The company is based in Berkeley, CA. For more information, visit http://www.radartx.bio.

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Radar Therapeutics Raises $13.4M in Seed Funding to Develop Smart Programmable Medicines Using Molecular ... - BioSpace

Have you heard? A revolution has seized the scientific community. Within only a few years, research labs worldwide have adopted a new technology that facilitates making specific changes in the DNA of humans, other animals, and plants. Compared to previous techniques for modifying DNA, this new approach is much faster and easier. This technology is referred to as CRISPR, and it has changed not only the way basic research is conducted, but also the way we can now think about treating diseases [1,2].

CRISPR is an acronym for Clustered Regularly Interspaced Short Palindromic Repeat. This name refers to the unique organization of short, partially palindromic repeated DNA sequences found in the genomes of bacteria and other microorganisms. While seemingly innocuous, CRISPR sequences are a crucial component of the immune systems [3] of these simple life forms. The immune system is responsible for protecting an organisms health and well-being. Just like us, bacterial cells can be invaded by viruses, which are small, infectious agents. If a viral infection threatens a bacterial cell, the CRISPR immune system can thwart the attack by destroying the genome of the invading virus [4]. The genome of the virus includes genetic material that is necessary for the virus to continue replicating. Thus, by destroying the viral genome, the CRISPR immune system protects bacteria from ongoing viral infection.

Figure 1 ~ The steps of CRISPR-mediated immunity. CRISPRs are regions in the bacterial genome that help defend against invading viruses. These regions are composed of short DNA repeats (black diamonds) and spacers (colored boxes). When a previously unseen virus infects a bacterium, a new spacer derived from the virus is incorporated amongst existing spacers. The CRISPR sequence is transcribed and processed to generate short CRISPR RNA molecules. The CRISPR RNA associates with and guides bacterial molecular machinery to a matching target sequence in the invading virus. The molecular machinery cuts up and destroys the invading viral genome. Figure adapted from Molecular Cell 54, April 24, 2014 [5].

Interspersed between the short DNA repeats of bacterial CRISPRs are similarly short variable sequences called spacers (FIGURE 1). These spacers are derived from DNA of viruses that have previously attacked the host bacterium [3]. Hence, spacers serve as a genetic memory of previous infections. If another infection by the same virus should occur, the CRISPR defense system will cut up any viral DNA sequence matching the spacer sequence and thus protect the bacterium from viral attack. If a previously unseen virus attacks, a new spacer is made and added to the chain of spacers and repeats.

The CRISPR immune system works to protect bacteria from repeated viral attack via three basic steps [5]:

Step 1) Adaptation DNA from an invading virus is processed into short segments that are inserted into the CRISPR sequence as new spacers.

Step 2) Production of CRISPR RNA CRISPR repeats and spacers in the bacterial DNA undergo transcription, the process of copying DNA into RNA (ribonucleic acid). Unlike the double-chain helix structure of DNA, the resulting RNA is a single-chain molecule. This RNA chain is cut into short pieces called CRISPR RNAs.

Step 3) Targeting CRISPR RNAs guide bacterial molecular machinery to destroy the viral material. Because CRISPR RNA sequences are copied from the viral DNA sequences acquired during adaptation, they are exact matches to the viral genome and thus serve as excellent guides.

The specificity of CRISPR-based immunity in recognizing and destroying invading viruses is not just useful for bacteria. Creative applications of this primitive yet elegant defense system have emerged in disciplines as diverse as industry, basic research, and medicine.

In Industry

The inherent functions of the CRISPR system are advantageous for industrial processes that utilize bacterial cultures. CRISPR-based immunity can be employed to make these cultures more resistant to viral attack, which would otherwise impede productivity. In fact, the original discovery of CRISPR immunity came from researchers at Danisco, a company in the food production industry [2,3]. Danisco scientists were studying a bacterium called Streptococcus thermophilus, which is used to make yogurts and cheeses. Certain viruses can infect this bacterium and damage the quality or quantity of the food. It was discovered that CRISPR sequences equipped S. thermophilus with immunity against such viral attack. Expanding beyond S. thermophilus to other useful bacteria, manufacturers can apply the same principles to improve culture sustainability and lifespan.

In the Lab

Beyond applications encompassing bacterial immune defenses, scientists have learned how to harness CRISPR technology in the lab [6] to make precise changes in the genes of organisms as diverse as fruit flies, fish, mice, plants and even human cells. Genes are defined by their specific sequences, which provide instructions on how to build and maintain an organisms cells. A change in the sequence of even one gene can significantly affect the biology of the cell and in turn may affect the health of an organism. CRISPR techniques allow scientists to modify specific genes while sparing all others, thus clarifying the association between a given gene and its consequence to the organism.

Rather than relying on bacteria to generate CRISPR RNAs, scientists first design and synthesize short RNA molecules that match a specific DNA sequencefor example, in a human cell. Then, like in the targeting step of the bacterial system, this guide RNA shuttles molecular machinery to the intended DNA target. Once localized to the DNA region of interest, the molecular machinery can silence a gene or even change the sequence of a gene (Figure 2)! This type of gene editing can be likened to editing a sentence with a word processor to delete words or correct spelling mistakes. One important application of such technology is to facilitate making animal models with precise genetic changes to study the progress and treatment of human diseases.

Figure 2 ~ Gene silencing and editing with CRISPR. Guide RNA designed to match the DNA region of interest directs molecular machinery to cut both strands of the targeted DNA. During gene silencing, the cell attempts to repair the broken DNA, but often does so with errors that disrupt the geneeffectively silencing it. For gene editing, a repair template with a specified change in sequence is added to the cell and incorporated into the DNA during the repair process. The targeted DNA is now altered to carry this new sequence.

In Medicine

With early successes in the lab, many are looking toward medical applications of CRISPR technology. One application is for the treatment of genetic diseases. The first evidence that CRISPR can be used to correct a mutant gene and reverse disease symptoms in a living animal was published earlier this year [7]. By replacing the mutant form of a gene with its correct sequence in adult mice, researchers demonstrated a cure for a rare liver disorder that could be achieved with a single treatment. In addition to treating heritable diseases, CRISPR can be used in the realm of infectious diseases, possibly providing a way to make more specific antibiotics that target only disease-causing bacterial strains while sparing beneficial bacteria [8]. A recent SITN Waves article discusses how this technique was also used to make white blood cells resistant to HIV infection [9].

Of course, any new technology takes some time to understand and perfect. It will be important to verify that a particular guide RNA is specific for its target gene, so that the CRISPR system does not mistakenly attack other genes. It will also be important to find a way to deliver CRISPR therapies into the body before they can become widely used in medicine. Although a lot remains to be discovered, there is no doubt that CRISPR has become a valuable tool in research. In fact, there is enough excitement in the field to warrant the launch of several Biotech start-ups that hope to use CRISPR-inspired technology to treat human diseases [8].

Ekaterina Pak is a Ph.D. student in the Biological and Biomedical Sciences program at Harvard Medical School.

1. Palca, J. A CRISPR way to fix faulty genes. (26 June 2014) NPR < http://www.npr.org/blogs/health/2014/06/26/325213397/a-crispr-way-to-fix-faulty-genes> [29 June 2014]

2. Pennisi, E. The CRISPR Craze. (2013) Science, 341 (6148): 833-836.

3. Barrangou, R., Fremaux, C., Deveau, H., Richards, M., Boyaval, P., Moineau, S., Romero, D.A., and Horvath, P. (2007). CRISPR provides acquired resistance against viruses in prokaryotes. Science 315, 17091712.

4. Brouns, S.J., Jore, M.M., Lundgren, M., Westra, E.R., Slijkhuis, R.J., Snijders, A.P., Dickman, M.J., Makarova, K.S., Koonin, E.V., and van der Oost, J. (2008). Small CRISPR RNAs guide antiviral defense in prokaryotes. Science 321, 960964.

5. Barrangou, R. and Marraffini, L. CRISPR-Cas Systems: Prokaryotes Upgrade to Adaptive Immunity (2014). Molecular Cell 54, 234-244.

6. Jinkek, M. et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. (2012) 337(6096):816-21.

7. CRISPR reverses disease symptoms in living animals for first time. (31 March 2014). Genetic Engineering and Biotechnology News. <http://www.genengnews.com/gen-news-highlights/crispr-reverses-disease-symptoms-in-living-animals-for-first-time/81249682/> [27 July 2014]

8. Pollack, A. A powerful new way to edit DNA. (3 March 2014). NYTimes < http://www.nytimes.com/2014/03/04/health/a-powerful-new-way-to-edit-dna.html?_r=0> [16 July 2014]

9. Gene editing technique allows for HIV resistance? <http://sitn.hms.harvard.edu/flash/waves/2014/gene-editing-technique-allows-for-hiv-resistance/> [13 June 2014]

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CRISPR: A game-changing genetic engineering technique

Taught by the genetic counselor faculty of the University of South Carolina Genetic Counseling Program, this specially designed genetic counseling online course,Genetic Counseling: Career for the Future, is comprised of lectures from genetic counselors, readings from professional literature and practical activities to help broaden your understanding of the profession and prepare for graduate school.

Online course topics include genetic counseling as a health care profession,with an introduction to various arenas of genetic counseling including prenatal, pediatric, cancer and adult. You'll explore clinical, laboratory and research roles, the counselor-patient relationship, ethical issues and other hot topics, as well as strategies for preparing for graduate education.

Fall: Sept. 12 - Nov. 18, 2022Register by Aug. 29

Winter: Jan. 9 - Mar. 17, 2023Register by Dec. 20

Summer: June 5 - Aug. 11, 2023Register by May 22

Register Now!

Questions can be directed to Genetics@uscmed.sc.edu

Our genetic counseling online course is offered over a 10-week period with two to three hours of self-paced activity per week. Upon completion, youll receive a continuing education certificate to add to your resume. There are no prerequisites for the course. Designed as an in-depth exploration of genetic counseling, the course will demonstrate your commitment to genetic counselor education at the same time you become savvy about the profession and considerations for graduate school.

The Genetic Counseling Program strives to increase diversity among genetic counselors and promotes an inclusive learning environment. As part of our Diversity Recruitment Initiative, a limited number of discounted registration fees will be granted to individuals of underrepresented communities of color. Come learn with us!

One of my reasons for taking this course was to feel inspired every week and gain further insight into the field of genetic counseling as I prepare for applications, and that is definitely happening! I really appreciate the range of assignments and I think it's a good combination to help structure our learning.

The work load is just right. Everything we have done has made me more and more excited about working towards my career as a genetic counselor.

I can tell that you have put a lot of time and effort into making this course as informative, up-to-date, and engaging as an in-person class.

It's fun to communicate with so many people with different backgrounds. Everyone shares their different experiences and I am constantly learning.

I've enjoyed reading the articles and responding to others on the discussion board. The videos have been so insightful --hearing from genetic counselors, learning about their jobs, and what excites them has been very meaningful to me.

With all of the information being online, I can start and stop the work as I please and always find time to do the readings and activities for the week. I really enjoy that the fact that the information comes from such a variety of resources...especially resources that I would have never known about otherwise. All of the articles, websites and videos have been so informative and learning more information about the field has deepened my passion for genetic counseling!"

You may also be interested in theSummer Internship.

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Genetic Counseling Online Course - School of Medicine Columbia ...

Eli Lilly and Companyhas expanded alicencing and partnership agreement withProQR Therapeutics to discover, develop and market new genetic medicines.

The companies entered the initial agreement in September last year.

This alliance is utilising the Axiomer ribonucleic acid (RNA) editing platform of ProQR to address ailments affecting the liver and nervous system.

So far, progresses in the platform have substantially boosted editing efficiency and advanced biodistribution in the liver and nervous system.

This has also led to new possible applications to fix known mutations and to apply protective variants in particular transcripts.

Under the expanded partnership, the firms will analyse additional applications of the Axiomer platform to unveil new therapies for diseases with great unmet medical needs.

As per this deal, Lilly will obtain access to further targets in the central nervous system and peripheral nervous system using the Axiomer platform.

Lilly will make an upfront payment and equity investment totalling $75m to ProQR.

Additionally, Lilly holds the option to expand the collaboration for a fee worth $50m.

The company can also choose to grant ProQR access to its delivery technology for the fully owned pipeline.

As per the prior and expanded agreements, ProQR is entitled to get research, development and commercialisation milestone payments totalling up to nearly $3.75bn, apart from tiered royalty payments on sales of products.

ProQR founder and CEO Daniel de Boer said: Our original collaboration with Lilly, which leverages our Axiomer RNA editing technology platform, continues to progress well and we are pleased to be expanding our partnership to include additional targets, along with an option for Lilly to opt in for more.

The latest development comes after Lilly andSosei Heptaressigned a partnership for developing small moleculesthat modulate new G protein-coupled receptor targets linked to diabetes and metabolic diseases.

Cell & Gene Therapy coverage on Pharmaceutical Technology is supported by Cytiva.

Editorial content is independently produced and follows thehighest standardsof journalistic integrity. Topic sponsors are not involved in the creation of editorial content.

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Lilly, ProQR to expand genetic medicine development agreement

Bookshelf

A collection of biomedical books that can be searched directly or from linked data in other NCBI databases. The collection includes biomedical textbooks, other scientific titles, genetic resources such as GeneReviews, and NCBI help manuals.

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information intheNIH Genetic Testing Registry (GTR),MedGen,Gene,OMIM,PubMedand other sources is accessible through hyperlinks on the records.

A registry and results database of publicly- and privately-supported clinical studies of human participants conducted around the world.

An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.

A searchable database of genes, focusing on genomes that have been completely sequenced and that have an active research community to contribute gene-specific data. Information includes nomenclature, chromosomal localization, gene products and their attributes (e.g., protein interactions), associated markers, phenotypes, interactions, and links to citations, sequences, variation details, maps, expression reports, homologs, protein domain content, and external databases.

A collection of expert-authored, peer-reviewed disease descriptions on the NCBI Bookshelf that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Summaries of information for selected genetic disorders with discussions of the underlying mutation(s) and clinical features, as well as links to related databases and organizations.

A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

A database of known interactions of HIV-1 proteins with proteins from human hosts. It provides annotated bibliographies of published reports of protein interactions, with links to the corresponding PubMed records and sequence data.

A compilation of data from the NIAID Influenza Genome Sequencing Project and GenBank. It provides tools for flu sequence analysis, annotation and submission to GenBank. This resource also has links to other flu sequence resources, and publications and general information about flu viruses.

A portal to information about medical genetics. MedGen includes term lists from multiple sources and organizes them into concept groupings and hierarchies. Links are also provided to information related to those concepts in the NIH Genetic Testing Registry (GTR), ClinVar,Gene, OMIM, PubMed, and other sources.

A project involving the collection and analysis of bacterial pathogen genomic sequences originating from food, environmental and patient isolates. Currently, an automated pipeline clusters and identifies sequences supplied primarily by public health laboratories to assist in the investigation of foodborne disease outbreaks and discover potential sources of food contamination.

A database of human genes and genetic disorders. NCBI maintains current content and continues to support its searching and integration with other NCBI databases. However, OMIM now has a new home at omim.org, and users are directed to this site for full record displays.

A database of citations and abstracts for biomedical literature from MEDLINE and additional life science journals. Links are provided when full text versions of the articles are available via PubMed Central (described below) or other websites.

A digital archive of full-text biomedical and life sciences journal literature, including clinical medicine and public health.

A collection of resources specifically designed to support the research of retroviruses, including a genotyping tool that uses the BLAST algorithm to identify the genotype of a query sequence; an alignment tool for global alignment of multiple sequences; an HIV-1 automatic sequence annotation tool; and annotated maps of numerous retroviruses viewable in GenBank, FASTA, and graphic formats, with links to associated sequence records.

A summary of data for the SARS coronavirus (CoV), including links to the most recent sequence data and publications, links to other SARS related resources, and a pre-computed alignment of genome sequences from various isolates.

An extension of the Influenza Virus Resource to other organisms, providing an interface to download sequence sets of selected viruses, analysis tools, including virus-specific BLAST pages, and genome annotation pipelines.

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