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Pros and Cons of Genetic Engineering – Humans, Animals, Plants

Posted: April 22, 2019 at 4:47 am

Genetic engineering offers enormous benefits to humans. It has the potential to fulfil the humans needs to a larger extent. For many years it is under practice to modify the organisms genetic makeup.

However, it also causes the number of harmful effects. So, we must weigh the Pros and Cons of Genetic Engineering.

Genetic engineering benefits to cure diseases by the use of gene therapy, by organ transplant, and tissue transplant. It also helps to diagnose the diseases by the use of sensors or nano-chips. It also contributes to the production of designer babies with parents desired features, intelligence characters. In animals, genetic engineering produces transgenic animals to satisfy the requirement of meat by humans. The clone animals are being used as the test organism in the laboratory in order to test the drug in clinical trials. It also increases milk production in animals also to produce therapeutic important compounds.

Making transgenic animals or human clone is unethical as said by most of the opponents. Genetic diversity, which is important, in different species it will be no more because of genetic engineering. Instead of curing diseases via gene therapy, organ transplant it may result in causing more genetic deformities in both animals as well as humans. Though these experiments or treatment as not easy to be done it needs a large amount of funding. It also needs model organisms in large amount on which experiments can be done. Creating designer babies is also not a process with any errors. The huge number of genetic defects can occur in making designer babies.



Increasing the number of population day by day needs more food for human. To supply the food to the huge population genetic engineering is the solution. Genetic engineering fulfils the food demand. It makes the plant resistant to pest, insects etc. Genetic engineering to increase the food quantity. It also enhances the crop productivity. As plants are resistant to pesticide, insecticide it will limit the use of pesticide spray. This will affect to reduce the environmental pollution. It is also important to increase the shelf life of food so that it can stay fresh for a longer period of time. Plants are going to have the property to be able to grow in poorer environmental conditions.

Genetic engineering can also affect the wild type of crops. As it transfers the gene to wild plant. It can also target the undesirable gene. Allergens in plants produced as a result of genetic engineering can be transferred to human as if humans eat that allergic food. Cross specie barriers can cause harmful effects. With increasing quantity of food, it is possible that food can have less nutritional properties as compared to wild type.



Genetic engineering in microorganism produces the large number of pharmaceutically important compounds such as insulin, clotting factors. CRISPR (clustered regulatory interspaced short palindromic repeats) system found in prokaryotes can be used to cure diseases by genetic manipulation. Genetic engineering can also enhance biofuel production. Microbes after genetic engineering with improved properties can be used as a vector for plant improvement, and to facilitate the crop growth. Genetic engineering halts the microorganisms ability to cause diseases. Microorganism those are not thermophile via genetic modification they will have the ability to survive high temperature.

Genetic manipulation of microorganisms that are non-pathogenic may develop the pathogenic form of these non-pathogenic strains. Similarly in genetic manipulation of pathogenic strains to less or non-pathogenic strains during drug development may develop its toxic form. Genetically engineered microorganism poses risk to the human health as well as to the environment.



So far, due to lack of public understanding about genetic engineering and regulatory bodies. It is not being perceived as safe by masses. Both International and national laws are needed. Certain limits need to be drawn which can only be done by scientists, lawmakers and activists can sit together.

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Pros and Cons of Genetic Engineering - Humans, Animals, Plants

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Miller Fisher syndrome and Haemophilus … –

Posted: April 20, 2019 at 9:50 pm

Objective: To examine the association between Miller Fisher syndrome (MFS) and antecedent Haemophilus influenzae infection.

Background: Little is known about agents in prior respiratory tract infection of MFS, whereas antecedent upper respiratory symptoms are frequent. H. influenzae is a major pathogen that can cause human respiratory tract infection.

Methods: The authors used ELISA to detect serum antibody against the bacterium in 70 consecutive patients with MFS and 110 with GuillainBarr syndrome (GBS).

Results: Serum antiH. influenzae IgG and IgM antibody activities were significantly higher in the MFS group than in age- and sex-matched patients with other neurologic diseases (n = 62) and normal control subjects (n = 82). The GBS group showed no significant increase in any class of antibody activities compared with control groups. Serologic evidence of recent infection was found in five (7%) of the patients with MFS and two (2%) of 110 patients with GBS, all of whom had a history of antecedent respiratory tract infection. They frequently showed ophthalmoplegia, but other neurologic features were not remarkable. Serum anti-GQ1b IgG antibody that had cross-reactivity with GT1a ganglioside was detected in six of these seven patients. Thin-layer chromatography with immunostaining showed that serum IgG from H. influenzaeseropositive patients with high anti-GQ1b and anti-GT1a IgG antibody titers bound to the lipopolysaccharide fraction extracted from the type b H. influenzae serostrain. These bands were also stained by anti-GT1a monoclonal antibody (GMR11), indicating that the lipopolysaccharide bears the GT1a epitope.

Conclusions: These findings point to H. influenzae being an agent associated with MFS. Epitopic overlap between H. influenzae and human nerve tissue may be involved in the development of MFS much as GBS is associated with Campylobacter jejuni enteritis.

Miller Fisher syndrome and Haemophilus ... -

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Diagnostic Medical Sonography Associate Degree – Northeast …

Posted: April 20, 2019 at 9:48 pm

EXCLUDESTARTRequirements for Program Entry


The DMS program follows a competitive enrollment process whereby candidate applications are reviewed by a ranking process. The following steps must be completed for the application process.

Attendance at a mandatory pre-application informational session will be required. To sign-up for a mandatory pre-application session, please contact Admissions at (920) 498-7159 or (888) 385-6982.

High school transcript or equivalent. (For a list of equivalents, go to

Two semesters in high school, or one semester of college Algebra, Biology, Physics, and Chemistry (with a lab component) with a grade of "B" or better.

To be admitted to this program, learners must achieve a prior cumulative high school or college grade point average of 3.0 or higher OR a satisfactory academic skills assessment score. College grade point average must be based on 15 credits or more. To learn more about starting this program, please contact an academic advisor at (920) 498-5444 or (888) 385-6982.

Upon completion of program benchmarks and attendance at the mandatory information session, students will be able to register for the Health Educations Systems Inc. (HESI) A2 Exam. The HESI can only be taken after attendance at a pre-application information session. Test topics include Math, Biology, Anatomy & Physiology, and Reading. To learn more about these assessment scores, please contact an admissions specialist at (920) 498-7159 or (888) 385-6982, or visit the DMS program webpage Related link, lower right side.

Candidates submitting applications to the DMS program must also provide an essay (no more than 1,000 words) completed on campus in the Assessment Center. The essay will follow a question and answer format and will include information related to the following; why they are interested in and their knowledge of the profession, experience in healthcare, specific skills and duties of a sonographer, and characteristics that make them a good candidate for the program.

Candidates are ranked in the following categories: HESI scores and program essay. The highest ranking candidates will be offered a place on the program wait list. Remaining candidates will need to resubmit a new application for the following year to have an opportunity to re-apply with the following year's applicants.


Upon success acceptance to the program wait list, the following must be completed:

Complete caregiver background check. A fee is charged for this service. Additional information will be provided upon acceptance into the program.

Complete mandatory welcome week program orientation.

Complete mandatory four-hour job shadow.

Program Availability










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Diagnostic Medical Sonography Associate Degree - Northeast ...

Recommendation and review posted by G. Smith

Human germline engineering – Wikipedia

Posted: April 19, 2019 at 2:49 pm

Human germline engineering is the process by which the genome of an individual is edited in such a way that the change is heritable. This is achieved through genetic alterations within the germ cells, or the reproductive cells, such as the egg and sperm.[1] Human germline engineering should not be confused with gene therapy. Gene therapy consists of altering somatic cells, which are all cells in the body that are not involved in reproduction. While gene therapy does change the genome of the targeted cells, these cells are not within the germline, so the alterations are not heritable and cannot be passed on to the next generation.[1]

The first attempt to edit the human germline was reported in 2015, when a group of Chinese scientists used the gene editing technique CRISPR/Cas9 to edit single-celled, non-viable embryos to see the effectiveness of this technique.[2] This attempt was rather unsuccessful; only a small fraction of the embryos successfully spliced the new genetic material and many of the embryos contained a large amount of random mutations.[2][3] The non-viable embryos that were used contained an extra set of chromosomes, which may have been problematic. In 2016, another similar study was performed in China which also used non-viable embryos with extra sets of chromosomes. This study showed very similar results to the first; there were successful integrations of the desired gene, yet the majority of the attempts failed, or produced undesirable mutations.[3]

The most recent, and arguably most successful, experiment in August 2017 attempted the correction of the heterozygous MYBPC3 mutation associated with Hypertrophic Cardiomyopathy in human embryos with precise CRISPRCas9 targeting. 52% of human embryos were successfully edited to retain only the wild type normal copy of MYBPC3 gene, the rest of the embryos were mosaic, where some cells in the zygote contained the normal gene copy and some contained the mutation.[4]

In November 2018, researcher Jiankui He claimed that he had created the first human genetically edited babies, known by their pseudonyms, Lulu (Chinese: ) and Nana (Chinese: ).[5][6]{

Human genetic modification is the direct manipulation of the genome using molecular engineering. The two different types of gene modification is "somatic gene modification" and "germline genetic modification." Somatic gene modification adds, cuts, or changes the genes in cells of a living person. Germline gene modification changes the genes in sperm, eggs, and embryos. These modifications would appear in every cell of the human body.

Human germline engineering is modifying the genes in the human sex cells that can be passed on to the future generations. This process is done by a complicated but an accurate technique that contains an enzyme complex called CRISPR/Cas9 clustered regularly interspaced short palindromic repeats, this enzyme can be found in many bacteria immune system, in which they use it to fight off any harmful infections.[7]

CRISPR is a repeated, short sequence of RNA that match with the genetic sequence that the scientists are aiming to modify or engineer. CRISPR works in rhythm with Cas9, an enzyme that splices the DNA. First, the CRISPR/Cas9 complex searches through the cell's DNA until it finds and binds to a sequence that matches the CRISPR, then, the Cas9 splices the DNA. After that, the scientist inserts a piece of DNA before the cell starts repairing the spliced part, said John Reidhaar-Olson, a biochemist at Albert Einstein College of Medicine in New York[8]. The main purpose of human germline engineering is to enable the scientists to discover the unknown functions of the genes by eliminating specific DNA fragments and observing the consequences in the targeted cell. Also, scientists use CRISPR technology to fix the gene mutations and to treat or eliminate some diseases that can be passed on to the offsprings[9].

CRISPR/cas9 is a genome editing tool that allows scientists to edit the genome by adding or removing sections of DNA. It contains an enzyme and RNA, the enzyme acting like scissors to alter the DNA while the RNA acts as a guide for those enzymes. This system is currently the fastest and cheapest way to genetically engineer on the market today and its uses are endless. The RNA in the CRISPR/cas9 allows researchers to target specific sequences in the genome making it possible for them to alter one sequence and not the others surrounding them. This is a new technology for scientists in the genomic altering field.[10]

Although the CRISPR/cas9 cannot yet be used in humans[citation needed], it allows scientists to target genes more effectively in diploid cells of mammals in order to one day be used in human research. Clinical trials are being conducted on somatic cells, but CRISPR could make it possible to modify the DNA of spermatogonial stem cells. This could eliminate certain diseases in human, or at least significantly decrease a disease's frequency until it eventually disappears over generations.[11] Cancer survivors theoretically would be able to have their genes modified by the CRISPR/cas9 so that certain diseases or mutations will not be passed down to their offspring. This could possibly eliminate cancer predispositions in humans.[11] Researchers hope that they can use the system in the future to treat currently incurable diseases by altering the genome altogether.

The Berlin Patient has a genetic mutation in the CCR5 gene (which codes for a protein on the surface of white blood cells, targeted by the HIV virus) that deactivates the expression of CCR5, conferring innate resistance to HIV. HIV/AIDS carries a large disease burden and is incurable (see Epidemiology of HIV/AIDS). One proposal is to genetically modify human embryos to give the CCR5 32 allele to people.

There are many prospective uses such as curing genetic diseases and disorders. If perfected, somatic gene editing can promise helping people who are sick. In the first study published regarding human germline engineering, the researchers attempted to edit the HBB gene which codes for the human -globin protein.[2] Mutations in the HBB gene result in the disorder -thalassaemia, which can be fatal.[2] Perfect editing of the genome in patients who have these HBB mutations would result in copies of the gene which do not possess any mutations, effectively curing the disease. The importance of editing the germline would be to pass on this normal copy of the HBB genes to future generations.

Another possible use of human germline engineering would be eugenic modifications to humans which would result in what are known as "designer babies". The concept of a "designer baby" is that its entire genetic composition could be selected for.[12] In an extreme case, people would be able to effectively create the offspring that they want, with a genotype of their choosing. Not only does human germline engineering allow for the selection of specific traits, but it also allows for enhancement of these traits.[12] Using human germline editing for selection and enhancement is currently very heavily scrutinized, and the main driving force behind the movement of trying to ban human germline engineering.[13]

The ability to germline engineer human genetic codes would be the beginning of eradicating incurable diseases such as HIV/AIDS, sickle-cell anemia and multiple forms of cancer that we cannot stop nor cure today.[14] Scientists having the technology to not only eradicate those existing diseases but to prevent them altogether in fetuses would bring a whole new generation of medical technology. There are numerous disease that humans and other mammals obtain that are fatal because scientists have not found a methodized ways to treat them. With germline engineering, doctors and scientists would have the ability to prevent known and future diseases from becoming an epidemic.

The topic of human germline engineering is a widely debated topic. It is formally outlawed in more than 40 countries. Currently, 15 of 22 Western European nations have outlawed human germline engineering.[15] Human germline modification has for many years has been heavily off limits. There is no current legislation in the United States that explicitly prohibits germline engineering, however, the Consolidated Appropriation Act of 2016 banned the use of U.S. Food and Drug Administration (FDA) funds to engage in research regarding human germline modifications.[16] In recent years, as new founding is known as "gene editing" or "genome editing" has promoted speculation about their use in human embryos. In 2014, it has been said about researchers in the US and China working on human embryos. In April 2015, a research team published an experiment in which they used CRISPR to edit a gene that is associated with blood disease in non-living human embryos. All these experiments were highly unsuccessful, but gene editing tools are used in labs.

Scientists using the CRISPR/cas9 system to modify genetic materials have run into issues when it comes to mammalian alterations due to the complex diploid cells. Studies have been done in microorganisms regarding loss of function genetic screening and some studies using mice as a subject. RNA processes differ between bacteria and mammalian cells and scientists have had difficulties coding for mRNA's translated data without the interference of RNA. Studies have been done using the cas9 nuclease that uses a single guide RNA to allow for larger knockout regions in mice which was successful.[17] Altering the genetic sequence of mammals has also been widely debated thus creating a difficult FDA regulation standard for these studies.

The lack of clear international regulation has lead to researchers across the globe attempting to create an international framework of ethical guidelines. Current framework lacks the requisite treaties among nations to create a mechanism for international enforcement. At the first International Summit on Human Gene Editing in December 2015 the collaboration of scientists issued the first international guidelines on genetic research.[18] These guidelines allow for the pre-clinical research into the editing of genetic sequences in human cells granted the embryos are not used to implant pregnancy. Genetic alteration of somatic cells for therapeutic proposes was also considered an ethnically acceptable field of research in part due to the lack of ability of somatic cells to transfer genetic material to subsequent generations. However citing the lack of social consensus, and the risk of inaccurate gene editing the conference called for restraint on any germline modifications on implanted embryos intended for pregnancy.

With the international outcry in response to the first recorded case of human germ line edited embryos being implanted by researcher He Jiankui, scientists have continued discussion on the best possible mechanism for enforcement of an international framework. On March 13th 2019 researchers Eric Lander, Franoise Baylis, Feng Zhang, Emmanuelle Charpentier, Paul Bergfrom along with others across the globe published a call for a framework that does not foreclose any outcome but includes a voluntary pledge by nations along with a coordinating body to monitor the application of pledged nations in a moratorium on human germline editing with an attempt to reach social consensus before moving forward into further research.[19] The World Health Organization announced on December 18th 2018 plans to convene an intentional committee on clinical germline editing.[20]

As it stands, there is much controversy surrounding human germline engineering. Editing the genes of human embryos is very different, and raises great social and ethical concerns. The scientific community, and global community, are quite divided regarding whether or not human germline engineering should be practiced or not. It is currently banned in many of the leading, developed countries, and highly regulated in the others due to ethical issues.[21] The large debate lies in the possibility of eugenics if human germline engineering were to be practiced clinically. This topic is hotly debated because the side opposing human germline modification believes that it will be used to create humans with "perfect", or "desirable" traits.[21][22][23][24][25] Those in favor of human germline modification see it as a potential medical tool, or a medical cure for certain diseases that lie within the genetic code.[22] There is a debate as to if this is morally acceptable as well. Such debate ranges from the ethical obligation to use safe and efficient technology to prevent disease to seeing actual benefit in genetic disabilities.[26] While typically there is a clash between religion and science, the topic of human germline engineering has shown some unity between the two fields. Several religious positions have been published with regards to human germline engineering. According to them, many see germline modification as being more moral than the alternative, which would be either discarding of the embryo, or birth of a diseased human.[22][24][25] The main conditions when it comes to whether or not it is morally and ethically acceptable lie within the intent of the modification, and the conditions in which the engineering is done.

The process of modifying the human genome has raised ethical questions. One of the issues is off target effects, large genomes may contain identical or homologous DNA sequences, and the enzyme complex CRISPR/Cas9 may unintentionally cleave these DNA sequences causing mutations that may lead to cell death.[27]

Another very interesting point on the debate of whether or not it is ethical and moral to engineer the human germline is a perspective of looking at past technologies and how they have evolved. Dr. Gregory Stock discusses the use of several diagnostic tests used to monitor current pregnancies and several diagnostic tests that can be done to determine the health of embryos.[23] Such tests include amniocentesis, ultrasounds, and other preimplantation genetic diagnostic tests. These tests are quite common, and reliable, as we talk about them today; however, in the past when they were first introduced, they too were scrutinized.[23]

One of the main arguments against human germline engineering lies in the ethical feeling that it will dehumanize children. At an extreme, parents may be able to completely design their own child, and there is a fear that this will transform children into objects, rather than human beings.[23][24][25] There is also a large opposition as people state that by engineering the human germline, there is an attempt at "playing God", and there is a strong opposition to this. One final, and very possible issue that causes a strong opposition of this technology is one that lies within the scientific community itself. Inevitably, this technology would be used for enhancements to the genome, which would likely cause many more to use these same enhancements. By doing this, the genetic diversity of the human race and the human gene pool as we know it would slowly and surely diminish.[23] Despite the controversy surrounding the topic of human germline engineering, it is slowly and very carefully making its way into many labs around the world. These experiments are highly regulated, and they do not include the use of viable human embryos, which allows scientists to refine the techniques, without posing a threat to any real human beings.[23]

The creation of genetically modified humans may have been performed in the mid-1990s, in which a 1997 study published in The Lancet claimed, the first case of human germ-line genetic modification resulting in normal healthy children..[28][29] In November 2018, researcher Jiankui He claimed that he had created the first human genetically edited babies, known by their pseudonyms, Lulu (Chinese: ) and Nana (Chinese: ).[5][6] Researcher Alcino J. Silva has discovered an impact the CCR5 gene has has on the memory function the brain.[30] Silva speculates the brain function of Lulu and Nana likely has been impacted but that the exact consequences of the edit are impossible to predict. Studies have shown mice who have had the CCR5 gene have shown a marked improvement in the function of their memory and brain recovery after stroke.

The first known publication of research into human germline editing was by a group of Chinese scientists in April 2015 in the Journal "Protein and Cell".[31] The scientists used tripronuclear (3PN) zygotes, zygotes fertilized by two sperm and therefore non-viable, to investigate CRISPR/Cas9-mediated gene editing in human cells, something that had never been attempted before. The scientists found that while CRISPR/Cas9 could effectively cleave the -globin gene (HBB), the efficiency of homologous recombination directed repair of HBB was highly inefficient and did not do so in a majority of the trials. Problems arose such as off target cleavage and the competitive recombination of the endogenous delta-globin with the HBB lead to unexpected mutation. The results of the study indicated that repair of HBB in the embryos occurred preferentially through alternative pathways. In the end only 4 of the 54 zygotes carried the intended genetic information, and even then the successfully edited embryos were mosaics containing the preferential genetic code and the mutation. The conclusion of the scientists was that further effort was needed in to improve the precision and efficiency of CRISPER/Cas9 gene editing.

In March 2017 a group of Chinese scientists claimed to have edited three normal viable human embryos out of six total in the experiment.[32] The study showed that CRISPR/Cas9 is could effectively be used as a gene-editing tool in human 2PN zygotes, which could lead potentially pregnancy viable if implanted. The scientists used injection of Cas9 protein complexed with the relevant sgRNAs and homology donors into human embryos. The scientists found homologous recombination-mediated alteration in HBB and G6PD. The scientists also noted the limitations of their study and called for further research.

In August 2017 a group of scientists from Oregon published an article in "Nature" journal detailing the successful use of CRISPR to edit out a mutation responsible for congenital heart disease.[33] The study looked at heterozygous MYBPC3 mutation in human embryos. The study claimed precise CRISPR/Cas9 and homology-directed repair response with high accuracy and percision. Double-strand breaks at the mutant paternal allele were repaired using the homologous wild-type gene. By modifying the cell cycle stage at which the DSB was induced, they were able to avoid mosaicism, which had been seen in earlier similar studies, in cleaving embryos and achieve a large percentage of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of unintended mutations. The scientists concluded that the technique may be used for the correction of mutations in human embryos. The claims of this study were however pushed back on by critics who argued the evidence was overall unpersuasive.

In June 2018 a group of scientists published and article in "Nature" journal indicating a potential link for edited cells having increased potential turn cancerous.[34] The scientists reported that genome editing by CRISPR/Cas9 induced DNA damage response and the cell cycle stopped. The study was conducted in human retinal pigment epithelial cells, and the use of CRISPR lead to a selection against cells with a functional p53 pathway. The conclusion of the study would suggest that p53 inhibition might increase efficiency of human germline editing and that p53 function would need to be watched when developing CRISPR/Cas9 based therapy.

In November 2018 a group of Chinese scientists published research in the journal "Molecular Therapy" detailing their use of CRISPR-Cas9 technology to correct a single mistaken amino acid successfully in 16 out of 18 attempts in a human embryo.[35] The unusual level of precision was achieved by the use of a base editor (BE) system which was constructed by fusing the deaminase to the dCas9 protein. The BE system efficiently edits the targeted C to T or G to A without the use of a donor and without DBS formation. The study focused on the FBN1 mutation that is causative for Marfan syndrome. The study provides proof positive for the corrective value of gene therapy for the FBN1 mutation in both somatic cells and germline cells. The study is noted for its relative precision which is a departure from past results of CRISPER-Cas9 studies.

The most controversial research to date has been the work of He Jiankui who presented his research at Second International Summit on Human Genome Editing in November 2018.[36] Jianku claimed to have implanted embryos that were successfully modified with a mutation in the CCR5 gene with the intent of preventing HIV transmission. The result of his experiment was the birth of two female children code named Lulu and Nana. The reaction against the announcement was swift and met with widespread international denunciation. Further details of Jianku's research have yet to be published aside from what was announced at the summit. Since the reveal of the research Jiankui's position at Southern University of Science and Technology has been terminated and he has been under a state of house arrest for his work and may even face the death penalty.[37]

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Human germline engineering - Wikipedia

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Mustang Bio, St. Jude new gene therapy for ‘bubble-boy …

Posted: April 18, 2019 at 7:52 pm

For babies born with the severe genetic condition known as "bubble-boy" disease, a run-of-the-mill common cold can be deadly.

Born without crucial disease-fighting immune cells, they must be kept isolated from the outside world for their own protection. Those with the disease normally spend months in the hospital and are treated for severe infections. Without treatment, most born with the disease die as infants.

A new experimental medicine is now being called a cure for the condition by researchers at St. Jude Children's Research Hospital. Ten babies born with the genetic disease, X-linked severe combined immunodeficiency (XSCID), have been successfully treated, with no apparent side effects, the researchers said on Wednesday.

The kids are now making their own immune cells. Nearly all have been able to go home with their families and live normal lives, including attending day care, with one more recently treated child remaining at St. Jude for the time being.

"This is a first for patients with XSCID," said Dr. Ewelina Mamcarz of the St. Jude Department of Bone Marrow Transplantation and Cellular Therapy. Mamcarz is the first author on a paper about the results, which reports on the first eight children to get the treatment and is being published in the peer-reviewed New England Journal of Medicine.

David Vetter. AP

XSCID, which according to US government estimates probably affects at least 1 in 100,000 newborns, became famous in the 1970s because of a young boy with XSCID named David Vetter.

Vetter lived his entire life in a plastic bubble to protect him from a deadly infection. He became known as "the bubble boy."

His story quickly captured the public's sympathy and imagination, and it even inspired a made-for-TV movie about Vetter starring John Travolta.

Those plastic chambers are now gone, but those with XSCID today still need to be kept in protective isolation to shelter them from infection.

One treatment option is a bone-marrow transplant, but not everyone can find a matching donor, and the treatments don't always work. The latter was the case for Vetter, who died at age 12 after an unsuccessful transplant.

Read more: The treatment that cured 2 men of HIV may also help with a remarkable array of more than 70 deadly diseases

There has long been hope that gene therapy, a cutting-edge area of medicine that tinkers with the body's genetic material to treat disease, could help. But in early treatments, some patients went on to develop leukemia, stymieing research efforts.

MB-107 is a new experimental gene therapy being developed by the $80 million biotech Mustang Bio and tested out at St. Jude. St. Jude

The new experimental treatment is called MB-107, and it's being developed by the biotech Mustang Bio, which has a market value of roughly $80 million. The biotech's stock was set to triple before the market opened on Thursday.

The researchers worked to minimize the risk of patients developing leukemia.

That has so far been successful, with no patients from the research trial developing the cancer.

The treatment begins with a patient's stem cells, which are collected and treated outside the body with a hollowed-out virus, introducing a normally functioning gene to the cells.

Patients then get chemotherapy before being infused with their newly altered cells. The entire process takes about 10 days from start to finish.

Read more: 'This is the most complicated process I've ever seen': As billions flow into gene therapy, top execs say a crisis is brewing in the hottest new area of medicine

The use of low doses of chemotherapy was an innovation borrowed from bone-marrow transplants, in which it is used to wipe out a patient's existing immune system. In the new experimental gene therapy, it seemed to improve uptake of the treatment and minimize safety issues.

Researchers say this is effectively a cure for XSCID, but they don't know yet how long it will last. They've tracked patients for 2 1/2 years at most so far.

In terms of "physiological, quality of life this is a cure," Dr. James Downing, president and CEO of St. Jude Children's Research Hospital, said. "The question is, will it be durable and last 10, 20, 50 years for these children?"

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Mustang Bio, St. Jude new gene therapy for 'bubble-boy ...

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Gene therapy restores immunity in infants with rare …

Posted: April 18, 2019 at 7:52 pm

News Release

Wednesday, April 17, 2019

NIH scientists and funding contributed to development of experimental treatment

A small clinical trial has shown that gene therapy can safely correct the immune systems of infants newly diagnosed with a rare, life-threatening inherited disorder in which infection-fighting immune cells do not develop or function normally. Eight infants with the disorder, called X-linked severe combined immunodeficiency (X-SCID), received an experimental gene therapy co-developed by National Institutes of Health scientists. They experienced substantial improvements in immune system function and were growing normally up to two years after treatment. The new approach appears safer and more effective than previously tested gene-therapy strategies for X-SCID.

These interim results from the clinical trial, supported in part by NIH, were published today in The New England Journal of Medicine.

Infants with X-SCID, caused by mutations in the IL2RG gene, are highly susceptible to severe infections. If untreated, the disease is fatal, usually within the first year or two of life. Infants with X-SCID typically are treated with transplants of blood-forming stem cells, ideally from a genetically matched sibling. However, less than 20% of infants with the disease have such a donor. Those without a matched sibling typically receive transplants from a parent or other donor, which are lifesaving, but often only partially restore immunity. These patients require lifelong treatment and may continue to experience complex medical problems, including chronic infections.

"A diagnosis of X-linked severe combined immunodeficiency can be traumatic for families," said Anthony S. Fauci, M.D., director of NIHs National Institute of Allergy and Infectious Diseases (NIAID). These exciting new results suggest that gene therapy may be an effective treatment option for infants with this extremely serious condition, particularly those who lack an optimal donor for stem cell transplant. This advance offers them the hope of developing a wholly functional immune system and the chance to live a full, healthy life.

To restore immune function to those with X-SCID, scientists at NIAID and St. Jude Childrens Research Hospital in Memphis, Tennessee, developed an experimental gene therapy that involves inserting a normal copy of the IL2RG gene into the patients own blood-forming stem cells. The Phase 1/2 trial reported today enrolled eight infants aged 2 to 14 months who were newly diagnosed with X-SCID and lacked a genetically matched sibling donor. The study was conducted at St. Jude and the Benioff Childrens Hospital of the University of California, San Francisco. Encouraging early results from a separate NIAID-led study at the NIH Clinical Center informed the design of the study in infants. The NIH study is evaluating the gene therapy in older children and young adults with X-SCID who previously had received stem cell transplants.

The gene therapy approach involves first obtaining blood-forming stem cells from a patients bone marrow. Then, an engineered lentivirus that cannot cause illness is used as a carrier, or vector, to deliver the normal IL2RGgene to the cells. Finally, the stem cells are infused back into the patient, who has received a low dose of the chemotherapy medication busulfan to help the genetically corrected stem cells establish themselves in the bone marrow and begin producing new blood cells.

Normal numbers of multiple types of immune cells, including T cells, B cells and natural killer (NK) cells, developed within three to four months after gene therapy in seven of the eight infants. While the eighth participant initially had low numbers of T cells, the numbers greatly increased following a second infusion of the genetically modified stem cells. Viral and bacterial infections that participants had prior to treatment resolved afterwards. The experimental gene therapy was safe overall, according to the researchers, although some participants experienced expected side effects such as a low platelet count following chemotherapy.

"The broad scope of immune function that our gene therapy approach has restored to infants with X-SCID as well as to older children and young adults in our study at NIH is unprecedented," said Harry Malech, M.D., chief of the Genetic Immunotherapy Section in NIAIDs Laboratory of Clinical Immunology and Microbiology. Dr. Malech co-led the development of the lentiviral gene therapy approach with St. Judes Brian Sorrentino, M.D., who died in late 2018. These encouraging results would not have been possible without the efforts of my good friend and collaborator, the late Brian Sorrentino, who was instrumental in developing this treatment and bringing it into clinical trials, said Dr. Malech.

Compared with previously tested gene-therapy strategies for X-SCID, which used other vectors and chemotherapy regimens, the current approach appears safer and more effective. In these earlier studies, gene therapy restored T cell function but did not fully restore the function of other key immune cells, including B cells and NK cells. In the current study, not only did participants develop NK cells and B cells, but four infants were able to discontinue treatment with intravenous immunoglobulins infusions of antibodies to boost immunity. Three of the four developed antibody responses to childhood vaccinations an indication of robust B-cell function.

Moreover, some participants in certain early gene therapy studies later developed leukemia, which scientists suspect was because the vector activated genes that control cell growth. The lentiviral vector used in the study reported today is designed to avoid this outcome.

Researchers are continuing to monitor the infants who received the lentiviral gene therapy to evaluate the durability of immune reconstitution and assess potential long-term side effects of the treatment. They also are enrolling additional infants into the trial. The companion NIH trial evaluating the gene therapy in older children and young adults also is continuing to enroll participants.

The gene therapy trial in infants is funded by the American Lebanese Syrian Associated Charities (ALSAC), and by grants from the California Institute of Regenerative Medicine and the National Heart, Lung, and Blood Institute, part of NIH, under award number HL053749. The work also is supported by NIAID under award numbers AI00988 and AI082973, and by the Assisi Foundation of Memphis. More information about the trial in infants is available on using identifier NCT01512888. More information about the companion trial evaluating the treatment in older children and young adults is available using identifier NCT01306019.

NIAID conducts and supports research at NIH, throughout the United States, and worldwide to study the causes of infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID website.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

NIHTurning Discovery Into Health

E Mamcarz et al. Lentiviral gene therapy with low dose busulfan for infants with X-SCID. The New England Journal of Medicine DOI: 10.1056/NEJMoa1815408 (2019).


Gene therapy restores immunity in infants with rare ...

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