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CRISPR: A game-changing genetic engineering technique

Posted: January 4, 2023 at 1:20 am

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

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Gene editing | Definition, History, & CRISPR-Cas9 | Britannica

Posted: January 4, 2023 at 1:16 am

gene editing, the ability to make highly specific changes in the DNA sequence of a living organism, essentially customizing its genetic makeup. Gene editing is performed using enzymes, particularly nucleases that have been engineered to target a specific DNA sequence, where they introduce cuts into the DNA strands, enabling the removal of existing DNA and the insertion of replacement DNA. Key among gene-editing technologies is a molecular tool known as CRISPR-Cas9, a powerful technology discovered in 2012 by American scientist Jennifer Doudna, French scientist Emmanuelle Charpentier, and colleagues and refined by American scientist Feng Zhang and colleagues. CRISPR-Cas9 functioned with precision, allowing researchers to remove and insert DNA in the desired locations.

The significant leap in gene-editing tools brought new urgency to long-standing discussions about the ethical and social implications surrounding the genetic engineering of humans. Many questions, such as whether genetic engineering should be used to treat human disease or to alter traits such as beauty or intelligence, had been asked in one form or another for decades. With the introduction of facile and efficient gene-editing technologies, particularly CRISPR-Cas9, however, those questions were no longer theoretical, and the answers to them stood to have very real impacts on medicine and society.

The idea of using gene editing to treat disease or alter traits dates to at least the 1950s and the discovery of the double-helix structure of DNA. In the mid-20th-century era of genetic discovery, researchers realized that the sequence of bases in DNA is passed (mostly) faithfully from parent to offspring and that small changes in the sequence can mean the difference between health and disease. Recognition of the latter led to the inescapable conjecture that with the identification of molecular mistakes that cause genetic diseases would come the means to fix those mistakes and thereby enable the prevention or reversal of disease. That notion was the fundamental idea behind gene therapy and from the 1980s was seen as a holy grail in molecular genetics.

The development of gene-editing technology for gene therapy, however, proved difficult. Much early progress focused not on correcting genetic mistakes in the DNA but rather on attempting to minimize their consequence by providing a functional copy of the mutated gene, either inserted into the genome or maintained as an extrachromosomal unit (outside the genome). While that approach was effective for some conditions, it was complicated and limited in scope.

In order to truly correct genetic mistakes, researchers needed to be able to create a double-stranded break in DNA at precisely the desired location in the more than three billion base pairs that constitute the human genome. Once created, the double-stranded break could be efficiently repaired by the cell using a template that directed replacement of the bad sequence with the good sequence. However, making the initial break at precisely the desired locationand nowhere elsewithin the genome was not easy.

Before the advent of CRISPR-Cas9, two approaches were used to make site-specific double-stranded breaks in DNA: one based on zinc finger nucleases (ZFNs) and the other based on transcription activator-like effector nucleases (TALENs). ZFNs are fusion proteins composed of DNA-binding domains that recognize and bind to specific three- to four-base-pair-long sequences. Conferring specificity to a nine-base-pair target sequence, for example, would require three ZFN domains fused in tandem. The desired arrangement of DNA-binding domains is also fused to a sequence that encodes one subunit of the bacterial nuclease Fok1. Facilitating a double-stranded cut at a specific site requires the engineering of two ZFN fusion proteinsone to bind on each side of the target site, on opposite DNA strands. When both ZFNs are bound, the Fok1 subunits, being in proximity, bind to each other to form an active dimer that cuts the target DNA on both strands.

TALEN fusion proteins are designed to bind to specific DNA sequences that flank a target site. But instead of using zinc finger domains, TALENs utilize DNA-binding domains derived from proteins from a group of plant pathogens. For technical reasons TALENs are easier to engineer than ZFNs, especially for longer recognition sites. Similar to ZFNs, TALENs encode a Fok1 domain fused to the engineered DNA-binding region, so, once the target site is bound on both sides, the dimerized Fok1 nuclease can introduce a double-stranded break at the desired DNA location.

Unlike ZFNs and TALENs, CRISPR-Cas9 uses RNA-DNA binding, rather than protein-DNA binding, to guide nuclease activity, which simplifies the design and enables application to a broad range of target sequences. CRISPR-Cas9 was derived from the adaptive immune systems of bacteria. The acronym CRISPR refers to clustered regularly interspaced short palindromic repeats, which are found in most bacterial genomes. Between the short palindromic repeats are stretches of sequence clearly derived from the genomes of bacterial pathogens. Older spacers are found at the distal end of the cluster, and newer spacers, representing more recently encountered pathogens, are found near the proximal end of the cluster.

Transcription of the CRISPR region results in the production of small guide RNAs that include hairpin formations from the palindromic repeats linked to sequences derived from the spacers, allowing each to attach to its corresponding target. The RNA-DNA heteroduplex formed then binds to a nuclease called Cas9 and directs it to catalyze the cleavage of double-stranded DNA at a position near the junction of the target-specific sequence and the palindromic repeat in the guide RNA. Because RNA-DNA heteroduplexes are stable and because designing an RNA sequence that binds specifically to a unique target DNA sequence requires only knowledge of the Watson-Crick base-pairing rules (adenine binds to thymine [or uracil in RNA], and cytosine binds to guanine), the CRISPR-Cas9 system was preferable to the fusion protein designs required for using ZFNs or TALENs.

A further technical advance came in 2015, when Zhang and colleagues reported the application of Cpf-1, rather than Cas9, as the nuclease paired with CRISPR to achieve gene editing. Cpf-1 is a microbial nuclease that offers potential advantages over Cas9, including requiring only one CRISPR guide RNA for specificity and making staggered (rather than blunt) double-stranded DNA cuts. The altered nuclease properties gave potentially greater control over the insertion of replacement DNA sequences than was possible with Cas9, at least in some circumstances. Researchers suspect that bacteria house other genome-editing proteins as well, the evolutionary diversity of which could prove valuable in further refining the precision and versatility of gene-editing technologies.

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Gene editing | Definition, History, & CRISPR-Cas9 | Britannica

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Unproven Stem Cell Treatments Offer Hope & Risks – Healthline

Posted: January 4, 2023 at 1:14 am

Unregulated clinics worldwide are offering stem cell therapies that may not live up to the hype, and can worsen a patients health.

The injections of stem cells into his spine were supposed to help Jim Gass, 66, recover from a stroke he had six years ago.

Gass traveled to clinics in Mexico, China, and Argentina to undergo these unproven procedures. Including travel, he spent close to $300,000, according to a story in The New York Times.

After the final round of shots, he was able to walk better. But his hope for a full recovery was cut short. While on vacation in Thailand six months after his treatments, he developed low back pain and difficulty walking and standing.

Back in Boston, doctors at Brigham and Womens Hospital did an MRI scan of his spine, and found a large mass filling the entire lower part of his spinal column.

Genetic testing revealed that the abnormal, primitive cells of the mass did not come from Gass, but from stem cells injected into his spine.

Radiation treatments seemed to slow the growth of the mass and improve Gass symptoms. But another scan done later in San Diego showed that the mass was growing again.

The doctors involved wrote about his case in a letter published June 22 in the New England Journal of Medicine.

Despite the outcome of this case, experts familiar with this kind of stem cell tourism say that some good may still come of it.

It is a really sad case, but its good that its causing discussion around both the potential harm of these therapies and the lack of evidence regarding the benefits, Timothy Caulfield, research director of the Health Law Institute at the University of Alberta, who wrote a recent commentary on stem cell hype, told Healthline.

Read more: Get the facts on stem cell research

This is not the first time that stem cell treatments have led to bad outcomes such as tumors or lesions.

There have been other reports of adverse events as a result of these kinds of therapies, said Caulfield. There have even been reports of adverse events when the procedure is less extreme such as people getting stem cell therapy for anti-aging, anti-wrinkle procedures.

Caulfield is quick to point out that therapy should be in quotes because with the exception of a few approved treatments the use of stem cells to treat illnesses has not reached the point where it is ready for widespread use in clinics.

There are very few stem cell therapies that have been proven, at this point, to be efficacious, said Caulfield. Lots of exciting work is going on theyre in clinical trials right now but for most conditions we simply arent there yet.

Although there are a few documented cases like Gass, many more may go unreported, resulting from treatments at unregulated stem cell clinics around the world.

We dont know exactly how many people are having these procedures, Dr. Jaime Imitola, a neurologist and stem cell researcher at The Ohio State University Wexner Medical Center, who has written about the dangers of stem cell tourism and how to counsel patients, told Healthline.

There are so many diseases that these clinics are often treating for from diabetes to ALS and some of these treatments may involve more risk than others, Imitola said.

Theres a big difference in risk between taking cells from your own body and putting them back in your blood, and injecting foreign cells into your spine, as was done in Gass case.

Also, these clinics are not part of a clinical research program, so there are a lot of unknowns about what happens during the procedures.

Are they actually using stem cells? How are they getting the stem cells into people? said Caulfield. Those are all open questions, because it is such an unregulated field.

While Gass traveled outside the United States for injections, unproven stem cell therapies show up much closer to home.

A paper published online Thursday in the journal Cell Stem Cell found that at least 351 businesses in the United States are marketing stem cell therapies that have not gone through the rigorous clinical trial process, or been approved by the Food and Drug Administration (FDA).

These businesses marketed stem cells as treatment for a wide range of conditions from spinal cord injuries and immune system problems to heart disease or even cosmetic fixes.

Read more: Stem cell treatments offering hope for MS patients

With few treatments available for many diseases, stem cell clinics step in to fill the void, many overhyping the actual research being done in this area.

[Clinics] are leveraging excitement around legitimate stem cell research and the pop culture footprint Ill put it that way of stem cells, said Caulfield.

Some of this hype has been generated when high-profile athletes undergo stem cell therapy and see improvements, like Peyton Manning did in Germany for a neck injury.

The company that Gass contacted had been involved in the treatment of former NFL quarterback John Brodie.

These remarkable success stories offer people hope. But because they happened outside a clinical trial, its impossible to know if the athletes health would have improved on their own.

Imitola compares this to using acupuncture alongside proven treatments.

If I give you acupuncture after a stem cell treatment, I cannot make the distinction whether what happens is a result of the acupuncture or the treatment, said Imitola, because this is not a clinical trial.

Researchers, universities, and the media also have a hand in stem cell hype. The time element, in particular, can be misrepresented.

I think that the scientific community really needs to be careful how they talk about stem cell research, said Caulfield. We did a study that showed, for example, that the time from doing basic research to getting into the clinic is often exaggerated when people talk about stem cell research. Our study found that it was often portrayed as if the research was going to be in the clinic in 5 to 10 years, or sooner, which is really, really fast. It creates unrealistic expectations.

Read more: Stem cells as a possible treatment for rheumatoid arthritis

Patients with spinal cord injuries or diseases are often anxious for new treatments to be approved quickly. But stem cell researchers have good reason to be cautious.

One characteristic that stem cells share with cancer cells is that they both multiply rapidly. This is why stem cell researchers have long been concerned that stem cells could form tumors.

Thats why there are so many years of testing in the lab, in animal models, and finally in clinical trials.

It is unethical to offer a procedure or a drug that is unproven, said Imitola.

When clinics skip ahead and offer treatments that have not been properly tested, they may end up hurting people instead of helping them.

Its interesting because [Gass] case, and others, is generating a new disease, a new complication, an iatrogenic tumor, said Imitola.

Of course, bad outcomes can happen during a clinical trial. But these are tracked, and clinical trials can be shut down if unforeseen side effects happen.

A recent stem cell clinical trial in Japan was stopped, because when the researchers looked at whether the cells were clean from a genetic point of view, the cells had some problems, some changes, said Imitola, So the researchers said, We cant do that, we cant inject the cells.

Imitola recently co-authored a paper in JAMA Neurology calling on doctors to educate patients with neurological diseases about stem cell tourism.

But he admits that cases like Gass can serve as an even more effective warning.

This patient, in particular, is important because he put a human face to this tragedy, said Imitola. We need more patients to come forward. Most likely, this is not an isolated case.

Human Genetics and Genomics Training Program – Hopkins Medicine

Posted: January 4, 2023 at 1:07 am

The Johns Hopkins Training program in Human Genetics and Genomics (HGG program) provides students with a robust foundation in all aspects of human genetics and genomics. In particular, the consequences of variation in our genomes on cellular biology, biochemistry, metabolism, development, physiology and, ultimately, human phenotypes. Building on this foundation, our trainees explore the array of mechanisms by which genetic variation interacts with environmental variables to contribute to disease mechanisms and risk, explored through the lens of normal and disease states in human biology and organ systems. The program provides an alternative to the combined M.D./Ph.D. program for those who want to carry out genetic studies in man but do not want the M.D. degree.

Our students become increasingly skilled and independent in adding to their knowledge and in identifying key questions and incisive approaches that can advance their fields. The ability to design incisive experiments that appropriately employ quantitative methods to analyze and interpret the data with rigor and integrity is central to their training.

The HGG program also strives to provide students with a diverse and inclusive environment and supports acquisition of fundamental skills for their chosen career path, including written and oral communication skills. Throughout their training, students are provided with opportunities to acquire the professional skills and experiences needed to guide selection of, and facilitate transition into, any number of relevant careers, including research in academia and industry, teaching, science-writing, policy, law, and consulting.

Johns Hopkins University was ranked as the #6 top graduate training school for genetics/genomics/bioinformatics by the U.S. News and World Report in 2022.

The HGG program is distinct from other programs in the JHU School of Medicine in its emphasis on human genetic variation; in particular, the origins, population distribution, and consequences for gene regulatory networks and, hence, phenotypic effects of human genetic variation. In essence, how genetic variation interacts with environmental variables to contribute to human health and disease. HGG remains one of the most prominent PhD training programs in genetics nationwide, producing incisive and creative thought leaders, skilled in the use of emerging genetic tools to dissect problems in human biology/clinical medicine.

A curriculum equipped for the challenges in 21st century genetics as applied to human biology and medicine: The rapidly expanding appreciation of genetic variation in medicine and health has arisen in tandem with dramatic technological advances. Holding this in tension with foundational concepts in genetics has necessitated a significant evolution of our training paradigm. HGG provides a unique training experience. Our revised curriculum integrates training in genetics, molecular and cellular biology with training in human pathobiology, disease mechanisms, computational and genomic tools, to equip HGG trainees for the emerging role of genetics in health.

Built for data: Contemporary genetic research increasingly necessitates computational competence and utilization of large data sets. The diverse and highly integrated HGG preceptor community includes a uniquely trained cohort of computational geneticists with deep training in phenotype definition, clinical disease, machine learning and genetic variation preparing our students for current and future data-driven discoveries. Of recently matriculated students, 31% are engaged in computationally intensive research.

Unique exposure to the interface between patient care and research: We take advantage of our position in a prominent school of medicine to provide HGG students with several unique opportunities. Among these, many students attend the weekly DGM Clinical Case Conference, allowing students to place genetic research in a clinically relevant context. Our students have the opportunity to work alongside the clinical and genetic counseling teams in preparing reports for the Online Mendelian Inheritance in Man (OMIM). This provides writing, clinical and professional development opportunities for our trainees that are not available elsewhere. We offer an elective, Understanding genetic disease, where students each observe a patient/family in a clinic under medical geneticist/counselor supervision. In class, they summarize the clinical issues and further discuss the epidemiology, pathogenesis, molecular genetic bases, treatment options, potential clinical trials, and research needs of the condition.

A training environment that promotes student initiatives and inclusivity: The HGG program promotes and has adopted student-initiatives to enhance diversity and inclusivity. These include a HGG-initiated, JHUSOM-wide committee and seminar series to address issues impacting the role and visibility of individuals with physical and mental disabilities in science and medicine (Equal Access in Science and Medicine); a seminar and discussion forum within HGG that addresses issues of race and gender-based inequities in genetics (Equity in Genetics); and a forward-looking effort to foster relationships with historically black colleges and universities (HBCU) to enhance research experience and expand opportunity for careers in science amongst undergraduates populations that are underrepresented in science (BUILD2ASCEND). We are currently planning with Dr Hohmann (PI of the BUILD grant at Morgan State University; MSU), to establish a long-term commitment to the program at MSU (and other HBCU). We aim to begin by developing a mini-symposium by HGG students presenting their thesis research to engage interested MSU students. This will provide HGG students with teaching and mentorship experience and provide MSU students with research and career development experience that have immediate and long-term consequences.

The Johns HopkinsTraining Program in Human Genetics and Genomics (HGG) has grown steadily since its inception in 1980 in parallel with the spectacular growth of genetics and genomics and their application to medicine over the last three decades. Similarly, the Johns Hopkins School of Medicine (SOM) continues to make commitments to human genetics as evidenced by the establishment of the McKusick-Nathans Institute of Genetic Medicine (IGM) in 1999, and the McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine (DGM) in 2019; as well as the provision of state of the art research space in 2004, and the 2009 introduction of a new medical school curriculum known as The Genes to Society curriculum, which has genetics and genetic-thinking as an underlying principle. In 2013, the DGM continued to grow with the field by partnering with the Johns Hopkins Bloomberg School of Public Health (JHSPH) and the National Human Genome Research Institute (NHGRI) to create the Maryland Genetics, Epidemiology, and Medicine Training Program (MD-GEM), funded by the Burroughs Wellcome Fund/MD-GEM takes a multidisciplinary approach by combining the expertise of all three institutions, to foster the development of a new generation of scientists.

Director: Andrew McCallion, Ph.D.Email: andy@jhmi.edu

Co-Director:Kimberly Doheny, Ph.D.Email: kdoheny@jhmi.edu

Administrator:Sandy MuscelliEmail: muscelli@jhmi.edu

The directors work closely with the Program Administrator, Ms. Sandy Muscelli, to deal with the day-to-day responsibilities of the program. Dr. McCallion served as Assistant Director for several years and provides valuable guidance to students throughout their training. Dr. Doheny is a 1993 graduate of the Human Genetics Program, providing guidance in the areas of large-scale genomics, technology development, clinical diagnostics and career development. Ms. Muscelli continues to serve as the Administrator for HGG, a position she has held since 1989. She organizes all aspects of the recruitment and admission processes, manages the budget, and handles the daily administrative duties. She should be the first person you contact if you have problems.

Additional input is provided by members of the Executive Committee: David Valle (chair), Professor of Genetic Medicine and former training program director from 1988-2021, Dan Arking, Professor of Genetic Medicine, Mary Armanios, Professor of Oncology, Hilary Vernon, Associate Professor of Genetic Medicine and Ambrose Wonkam, Professor and Director, Department of Genetic Medicine. All members of the Executive Committee are extensively involved in the selection and recruitment of our students and in counseling students with questions and/or problems.

Student Representatives are elected from each class to speak on behalf of students throughout their graduate careers. Responsibilities include organizing events throughout the academic year including the Barton Childs Lecture and events, student activities related to recruiting, the practice talks for students prior to their comprehensive exams, and orientation for the incoming first years. Additionally, the senior student representative attends faculty meeting and convey pertinent information from these meetings to all HGG students. When necessary, they act as a conduit between the students and program administration.

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Human Genetics and Genomics Training Program - Hopkins Medicine

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Basal Cell Carcinoma Treatment – The Skin Cancer Foundation

Posted: January 4, 2023 at 12:59 am

Approved oral medications

Two oral medications are FDA-approved for treating adults with very rare cases of advanced BCC that are large or have penetrated the skin deeply, spread to other parts of the body or resisted multiple treatments and recurred.

Vismodegib (Erivedge)Sonidegib (Odomzo)

Both medications are targeted drugs taken by mouth. They work by blocking the hedgehog signaling pathway, a key factor in the development of BCC. In 2012, vismodegib became the first medicine ever approved by the FDA for treating advanced BCC. A second hedgehog pathway inhibitor (HHI) drug, sonidegib, was approved for advanced BCC in 2015.

Vismodegib is used for the extraordinarily rare cases of metastatic BCC or locally advanced BCC (tumors that have penetrated the skin deeply or frequently recurred) that either recur after surgery or radiation, or cannot be treated with surgery or radiation and have become dangerous or life-threatening.

Sonidegib is used in adults with BCC that is locally advanced, penetrating the skin deeply or repeatedly recurring, as well as in cases when other treatments such as surgery or radiation cannot be used.

Due to a risk of birth defects, women who are pregnant or may become pregnant should not use either drug. Couples must use birth control if the woman is capable of becoming pregnant while her partner is taking the medication.

Scientists are also investigating several other targeted hedgehog inhibitors as potential treatments for locally advanced and metastatic BCC.

In February 2021, the U.S. Food and Drug Administration (FDA) approved the intravenous immunotherapy medication,cemiplimab-rwlc(Libtayo) for treating patients with certain forms of advanced basal cell carcinoma.

Cemiplimab-rwlc(Libtayo)

Cemiplimabis a type of immunotherapy known as a checkpoint blockade therapy, which works by harnessing the power of the immune system to battle cancer. Under normal conditions, the immune system uses checkpoints, which are molecules that suppress production of T cells, the white blood cells that help protect the body from infection. These checkpoints keep T cells from overproducing and attacking normal cells in the body. However, cancer cells have the ability to keep those checkpoints active, suppressing the immune system so the cancer can grow and thrive. Cemiplimabblocks a particular checkpoint called PD-1 from working, so the immune system can releasemassive amounts of T cells to attack and kill cancer cells.

Find out more aboutcemiplimab.

Cemiplimabis used to treat patients with advanced basal cell carcinoma (BCC) previously treated with a hedgehog pathway inhibitor (HHI) or for whom an HHI is not appropriate. Full approval was granted for patients with locally advanced BCC and accelerated approval was granted for patients with metastatic BCC.

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Basal Cell Carcinoma Treatment - The Skin Cancer Foundation

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Still Drinking Green Tea? Doctor Reveals A Healthier Drink With Proven Benefits For Diabetes, Aging, Oxidative Stress, And Cancer – Revyuh

Posted: January 4, 2023 at 12:54 am

Still Drinking Green Tea? Doctor Reveals A Healthier Drink With Proven Benefits For Diabetes, Aging, Oxidative Stress, And Cancer Revyuh

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Still Drinking Green Tea? Doctor Reveals A Healthier Drink With Proven Benefits For Diabetes, Aging, Oxidative Stress, And Cancer - Revyuh

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Cardiovascular Glossary A-Z (All) | Texas Heart Institute

Posted: January 4, 2023 at 12:53 am

Abdomen The area of the body between the bottom of the ribs and the top of the thighs.

Abdominal aorta The portion of the aorta in the abdomen.

Ablation Elimination or removal.

ACE (angiotensin-converting enzyme) inhibitor A medicine that lowers blood pressure by interfering with the breakdown of a protein-like substance involved in blood pressure regulation.

Acetylcholine A type of chemical (called a neurotransmitter) that transmits messages among nerve cells and muscle cells.

Acquired heart disease Heart disease that arises after birth, usually from infection or through the build-up of fatty deposits in the arteries that feed the heart muscle.

Alveoli Air sacs in the lungs where oxygen and carbon dioxide are exchanged.

Amiodarone A kind of medicine (called an antiarrhythmic) used to treat irregular heart rhythms such as atrial fibrillation and ventricular tachycardia. It works by regulating nerve impulses in your heart. Amiodarone is mainly given to patients who have not responded to other antiarrhythmic medicines.

Aneurysm A sac-like protrusion from a blood vessel or the heart, resulting from a weakening of the vessel wall or heart muscle.

Angina or angina pectoris Chest pain that occurs when diseased blood vessels restrict blood flow to the heart.

Angiography An x-raytechnique in which dye is injected into the chambers of your heart or the arteries that lead to your heart (the coronary arteries). The test lets doctors measure the blood flow and blood pressure in the heart chambers and see if the coronary arteries are blocked.

Angioplasty A nonsurgical technique for treating diseased arteries by temporarily inflating a tiny balloon inside an artery.

Angiotensin II receptor blockerA medicine that lowers blood pressure by blocking the action of angiotensin II, a chemical in the body that causes the blood vessels to tighten (constrict).

Annulus The ring around a heart valve where the valve leaflet merges with the heart muscle.

Antiarrhythmics Medicinesused to treat patients who have irregular heart rhythms.

Anticoagulant Any medicine that keeps blood from clotting; a blood thinner.

Antihypertensive Any medicine or other therapy that lowers blood pressure.

Antiplatelet therapy Medicines that stop blood cells (called platelets) from sticking together and forming a blood clot.

Aorta The largest artery in the body and the main vessel to supply blood from the heart.

Aortic valve The valve that regulates blood flow from the heart into the aorta.

Aphasia The inability to speak, write, or understand spoken or written language because of brain injury or disease.

Arrhythmia (or dysrhythmia) An abnormal heartbeat.

Arrhythmogenic right ventricular dysplasia (ARVD) ARVD is a type of cardiomyopathy with no known cause. It appears to be a genetic condition (passed down through a familys genes). ARVD causes ventricular arrhythmias.

Arteriography A test that is combined with cardiac catheterization to visualize an artery or the arterial system after injection of a contrast dye.

Arterioles Small, muscular branches of arteries. When they contract, they raiseresistance to blood flow, and blood pressure in the arteries increases.

Artery A vessel that carries oxygen-rich blood to the body.

Arteritis Inflammation of the arteries.

Arteriosclerosis A disease process, commonly called hardening of the arteries, which includes a variety of conditions that cause artery walls to thicken and lose elasticity.

Artificial heart A manmade heart. Also called a total artificial heart (TAH).

Ascending aorta The first portion of the aorta, emerging from the hearts left ventricle.

AspirinAcetylsalicylic acid; a medicine used to relieve pain, reduce inflammation, and prevent blood clots.

Atherectomy A nonsurgical technique for treating diseased arteries with a rotating device that cuts or shaves away material that is blocking or narrowing an artery.

Atherosclerosis A disease process that leads to the buildup of a waxy substance, called plaque, inside blood vessels.

Atrium (right and left) The two upper or holding chambers of the heart (together referred to as atria).

Atrial flutter A type of arrhythmia in which the upper chambers of the heart (the atria) beat very fast, causing the walls of the lower chambers (the ventricles) to beat inefficiently as well.

Atrial septal defect See septal defect.

Atrial tachycardia A type of arrhythmia that begins in the hearts upper chambers (the atria) and causes a very fast heart rate of 160 to 200 beats a minute. A resting heart rate is normally 60 to 100 beats a minute.

Atrioventricular block An interruption or disturbance of the electrical signal between the hearts upper two chambers (the atria) and lower two chambers (the ventricles).

Atrioventricular (AV) node A group of cells in the heart located between the upper two chambers (the atria) and the lower two chambers (the ventricles) that regulates the electrical current that passes through it to the ventricles.

Atrium Either one of the hearts two upper chambers.

Autologous Relating to self. For example, autologous stem cells are those taken from the patients own body.

Autoregulation When blood flow to an organ stays the same although pressurein the artery that delivers blood to that organ may have changed.

Bacteria Germs that can lead to disease.

Bacterial endocarditis A bacterial infection of the lining of the hearts chambers (called the endocardium) or of the hearts valves.

Balloon catheterA long tube-like device with a small balloon on the end that can be threaded through an artery. Used in angioplasty or valvuloplasty.

Balloon valvuloplasty A procedure to repair a heart valve. A balloon-tipped catheter is threaded through an artery and into the heart. The balloon is inflated to open and separate any narrowed or stiffened flaps (called leaflets) of a valve.

Beta-blocker An antihypertensivemedicine that limits the activity of epinephrine, a hormone that increases blood pressure.

Biopsy The process by which a small sample of tissue is taken for examination.

Blalock-Taussig procedure A shunt between the subclavian and pulmonary arteries used to increase the supply of oxygen-rich blood in blue babies (see below).

Blood clot A jelly-like mass of blood tissue formed by clotting factors in the blood. Clots stop the flow of blood from an injury. Clots can also form inside an artery when the arterys walls are damaged by atherosclerotic buildup, possibly causing a heart attack or stroke.

Blood pressure The force or pressure exerted by the heart in pumping blood; the pressure of blood in the arteries.

Blue babies Babies who have a blue tinge to their skin (cyanosis) resulting from insufficient oxygen in the arterial blood. This condition often indicates a heart defect.

Body mass index (BMI) A number that indicates an increased risk of cardiovascular disease from a person being overweight. BMI is calculated using a formula of weight in kilograms divided by height in meters squared (BMI =W [kg]/H [m2]).Click here for a BMI calculator.

Bradycardia Abnormally slow heartbeat.

Bridge to transplant Use of mechanical circulatory support to keep heart failure patients alive until a donor heart becomes available.

Bruit A sound made in the blood vessels resulting from turbulence, perhaps because ofa buildup of plaque or damage to the vessels.

Bundle branch block A condition in which parts of the hearts conduction system are defective and unable to conduct the electrical signal normally, causing an irregular heart rhythm (arrhythmia).

Bypass Surgery that can improve blood flow to the heart (or other organs and tissues) by providing a new route, or bypass around a section of clogged or diseased artery.

Calcium channel blocker (or calcium blocker) A medicine that lowers blood pressure by regulating calcium-related electrical activity in the heart.

Capillaries Microscopically small blood vessels between arteries and veins that distribute oxygen-rich blood to the bodys tissues.

Cardiac Pertaining to the heart.

Cardiac amyloidosis A disorder caused by deposits of an abnormal protein (amyloid) in the heart tissue, which make it hard for the heart to work properly. Also called stiff heart syndrome.

Cardiac arrest The stopping of the heartbeat, usually because of interference with the electrical signal (often associated with coronary heart disease).

Cardiac cachexia A term for the muscle and weight loss caused by severe heart disease. It is often related to the depressed cardiac output associated with end-stage heart failure, but it can also occur with severe coronary artery disease.

Cardiac catheterization A procedure that involves inserting a fine, hollow tube (catheter) into an artery, usually in the groin area, and passing the tube into the heart. Often used along with angiography and other procedures, cardiac catheterization has become a primary tool for visualizing the heart and blood vessels and diagnosing and treating heart disease.

Cardiac enzymes Complex substances capable of speeding up certain biochemical processes in the heart muscle. Abnormal levels of these enzymes signal heart attack.

Cardiac output The amount of blood the heart pumps through the circulatory system in one minute.

Cardiologist A doctor who specializes in the study of the heart and its function in health and disease.

Cardiology The study of the heart and its function in health and disease.

Cardiomegaly An enlarged heart. It is usually a sign of an underlying problem, such as high blood pressure, heart valve problems, or cardiomyopathy.

Cardiomyopathy A disease of the heart muscle that leads to generalized deterioration of the muscle and its pumping ability.

Cardiopulmonary bypass The process by which a machine is used to do the work of the heart and lungs so the heart can be stopped during surgery.

Cardiopulmonary resuscitation (CPR) An emergency measure that can maintain a persons breathing and heartbeat. The person who performs CPR actually helps the patients circulatory system by breathing into the patients mouth to give them oxygen and by giving chest compressions to circulate the patients blood. Hands-only CPR involves only chest compressions.

Cardiovascular (CV) Pertaining to the heart and blood vesselsthat make upthe circulatory system.

Cardiovascular Disease (CVD) A general term referring to conditions affecting the heart (cardio) and blood vessels (vascular system). May also simply be called heart disease. Examples include coronary artery disease, valve disease, arrhythmia, peripheral vascular disease, congenital heart defects, hypertension, and cardiomyopathy. Refer to specific conditions for detailed explanations.

Cardioversion A technique of applying an electrical shock to the chestto convert an abnormal heartbeat to a normal rhythm.

Carotid artery A major artery (right and left) in the neck supplying blood to the brain.

Cerebral embolism A blood clot formed in one part of the body and then carried by the bloodstream to the brain, where it blocks an artery.

Cerebral hemorrhage Bleeding within the brain resulting from a ruptured blood vessel, aneurysm, orhead injury.

Cerebral thrombosis Formation of a blood clot in an artery that supplies part of the brain.

Cerebrovascular Pertaining to the blood vessels of the brain.

Cerebrovascular accident Also called cerebral vascular accident, apoplexy, or stroke. Blood supply to some part of the brain is slowed or stopped, resulting in injury to brain tissue.

Cerebrovascular occlusion The blocking or closing of a blood vessel in the brain.

Cholesterol An oily substance that occurs naturally in the body, in animal fats and in dairy products, and that is transported in the blood. Limitedamounts are essential for the normal development of cell membranes. Excess amounts can lead to coronary artery disease.

Cineangiography The technique ofusing moving pictures to show how a special dye passes through blood vessels,allowing doctors to diagnose diseases of the heart and blood vessels.

Circulatory system Pertaining to circulation of blood through the heart and blood vessels.

Claudication A tiredness or pain in the arms and legs caused by an inadequate supply of oxygen to the muscles, usually due to narrowed arteries or peripheral arterial disease (PAD).

Collateral circulation Blood flow through small, nearby vessels in response to blockage of a main blood vessel.

Commissurotomy-A procedure used to widen the opening of a heart valve that has been narrowed by scar tissue.

Computed tomography (CT or CAT scan) An x-ray technique that uses a computer to create cross-sectional images of the body.

Conduction system Special muscle fibers that conduct electrical impulses throughout the heart muscle.

Congenital Refers to conditions existing at birth.

Congenital heart defects Malformation of the heart or of its major blood vessels present at birth.

Congestive heart failure A condition in which the heart cannot pump all the blood returning to it, leading to a backup of blood in the vessels and an accumulation of fluid in the bodys tissues, including the lungs.

Coronary arteries Two arteries arising from the aorta that arch down over the top of the heart and divide into branches. They provide blood to the heart muscle.

Coronary artery anomaly(CAA) A congenital defect in one or more of the coronary arteries of the heart.

Coronary artery bypass (CAB) Surgical rerouting of blood around a diseased vessel that supplies blood to the heart. Done by grafting either a piece of vein from the leg or a piece of the artery from under the breastbone.

Coronary artery disease (CAD) A narrowing of thearteries that supply blood to the heart. The condition results from a buildup of plaque and greatly increases the risk of a heart attack.

Coronary heart disease Disease of the heart caused by a buildup of atherosclerotic plaque in the coronary arteries thatcan lead to angina pectoris or heart attack.

Coronary occlusion An obstruction of one of the coronary arteries that hinders blood flow tothe heart muscle.

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Cardiovascular Glossary A-Z (All) | Texas Heart Institute

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What is Epigenetics? – Bruce H. Lipton, PhD

Posted: January 4, 2023 at 12:51 am

Epigenetics is a new type of science that is growing in popularity and promise in the scientific world. Epigenetics is the study of cellular and physiological traits, or the external and environmental factors, that turn our genes on and off, and in turn, define how our cells actually read those genes. It works to see the true potential of the human mind, and the cells in our body.

This is a science that even eminent scientists are beginning to see the potential in. Sir Adrian Bird defined epigenetics as the structural adaptation of chromosomal regions that register, signal and perpetuate altered activity states. Another scientist with decades of experience who is also leading the way with epigenetics is Dr. Bruce Lipton, who has written three major books on the field and how it can enrich our own lives.

The best-selling author of The Biology of Belief, Bruce Lipton is a stem cell biologist, recipient of the Goi Peace Award, and a keynote presenter at many national and international conferences. Beginning his career as a cell biologist, he would go on to examine the principles of quantum physics and how that can be integrated into the understanding of how cells process information. Through this, he produced studies that were breakthroughs regarding cell membranes. His studies showed that the outer layer of the cell was essentially an organic computer chip, and worked like the brain of the cell. From 1987 to 1992, he researched this idea and found that the environment, which would operate through the membrane, controlled the behaviour and the physiology of the cell. It would turn genes on and off, and it would help create the modern science of epigenetics.

Epigenetics didnt just change Dr. Liptons professional life, it also changed his personal life. He found a deeper understanding of cell biology and how the mind can control the bodily functions, as well as the possibility of an immortal spirit. He took this science of epigenetics and put it to his personal biology, and found that his daily life improved, as did his physical life. Learning this from epigenetics, he wanted to take that same knowledge and pass it on to others.

To that end, Dr. Lipton is now an award-winning medical school lecturer and is a sought-after keynote speaker. In addition, he has written several books including the best-seller Biology of Belief, as well as his latest book, Spontaneous Evolution, Our Positive Future and a Way To Get From There to Here.

Epigenetics has the potential to change your life by making you happier and healthier, with a greater sense of spiritual well-being. Through his experience with epigenetics, Dr. Lipton can teach you through his books how to take advantage of this new science and begin living a happy and healthy life. His books are written in a straight-forward manner that are easy to understand, covering everything from how your cells work, to how you can keep things like the Honeymoon Effect, lasting your entire life, all through epigenetics.

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What is Epigenetics? - Bruce H. Lipton, PhD

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What is Biotechnology? Master of Biotechnology

Posted: January 4, 2023 at 12:47 am

The biotechnology revolution, fueled by the sequencing of the human genome, will affect every aspect of the way we live, from our environment, to what we eat, to how we diagnose and treat illness. Already, biotechnology has improved the quality of our lives. In the next decade, as the pace of advances in biotechnology accelerate, the scope and volume of biotechnologys effects will be even greater.

What is biotechnology? In its broadest definition, biotechnology is the use of advances in molecular biology for applications in human and animal health, agriculture, environment, and specialty biochemical manufacturing. In the next century, the major driving force for biotechnology will be the strategic use of genomic information. With the completion of the human genome project, the subsequent understanding of what these genes code for and how the products of these genes relate and interact, will completely transform the practice of medicine. It is now possible to translate discoveries in bacteria, yeast, or fruit flies into important therapeutic targets for drug discovery. DNA chip diagnostics, cell and gene therapy, and tissue engineering will emerge over the next ten years as important biotechnology products.

Biotechnology the interdisciplinary frontier between biology, engineering, medicine and plant science is also the scene of exciting scientific and technological developments in many areas of science. Important areas of development include:

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What is Biotechnology? Master of Biotechnology

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Where Does Chemomab Therapeutics Ltd – ADR (CMMB) Stock Fall in the Biotechnology Field After It Has Gained 52.97% This Week? – InvestorsObserver

Posted: January 4, 2023 at 12:47 am

Where Does Chemomab Therapeutics Ltd - ADR (CMMB) Stock Fall in the Biotechnology Field After It Has Gained 52.97% This Week? InvestorsObserver

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Where Does Chemomab Therapeutics Ltd - ADR (CMMB) Stock Fall in the Biotechnology Field After It Has Gained 52.97% This Week? - InvestorsObserver