Tag: genetic disorders

Bioethics News

Will Healthcare Inequality Cause Genetic Diseases to Disproportionately Impact the Poor?

Imagine now, that in the future, being poor also meant you were more likely than others to suffer from major genetic disorders like cystic fibrosis, Tay–Sachs disease, and muscular dystrophy. That is a future, some experts fear, that may not be all that far off

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

The goal of human embryonic gene editing is enhancement

As Jon Holmlund reported in his post last week, research on the editing of genes in human embryos is now being conducted in the United States. The door to doing this research was opened by the consensus report on Human Genome Editing published by the National Academy of Sciences earlier this year. That report encouraged the pursuit of research on gene editing in human embryos and justified that based on the potential benefit of editing human embryos to correct genes for serious human genetic disorders. The report recommended that once basic research could show the reliability of the gene editing techniques it would be reasonable to proceed with human clinical trials as long as those trials involved the correction of genes responsible for serious genetic disorders. They stated that there were significantly more moral concerns about using human genome editing for enhancement and that enhancement should not be pursued until those moral concerns were resolved. Thus, the research currently being done in Portland, Oregon by Shoukhrat Mitalipov (see article in MIT Technology Review) involves creating human embryos with a single gene genetic disorder and then editing the abnormal gene to remove the disorder.

However, the idea that human germline genetic modification should be pursued to correct serious genetic disorders is a flawed concept. The technique used by Mitalipov does not involve treatment of a diseased human embryo, but the creation at the time of conception of a genetically altered embryo. Since the goal of this procedure is not the treatment of a diseased individual, but the creation of a child free of a particular genetic disease for parents who desire such a genetically related child, there is a much simpler and already available means to accomplish that goal.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

The biological status of the early human embryo. When does human life begins?

“Those who argue that that embryo can be destroyed with impunity will have to prove that this newly created life is not human. And no-one, to the best of our knowledge, has yet been able to do so.”

Introduction

In order to determine the nature of the human embryo, we need to know its biological, anthropological, philosophical, and even its legal reality. In our opinion, however, the anthropological, philosophical and legal reality of the embryo — the basis of its human rights — must be built upon its biological reality (see also HERE).

Consequently, one of the most widely debated topics in the field of bioethics is to determine when human life begins, and particularly to define the biological status of the human embryo, particularly the early embryo, i.e. from impregnation of the egg by the sperm until its implantation in the maternal endometrium.

Irrespective of this, though, this need to define when human life begins is also due to the fact that during the early stages of human life — approximately during its first 14 days — this young embryo is subject to extensive and diverse threats that, in many cases, lead to its destruction (see HERE).

These threats affect embryos created naturally, mainly through the use of drugs or technical procedures used in the control of human fertility that act via an anti-implantation mechanism, especially intrauterine devices (as DIU); this is also the case of drugs used in emergency contraception, such as levonorgestrel or ulipristal-based drugs (see HERE), because both act via an anti-implantation mechanism in 50% of cases.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

The biological status of the early human embryo. When does human life begins?

“Those who argue that that embryo can be destroyed with impunity will have to prove that this newly created life is not human. And no-one, to the best of our knowledge, has yet been able to do so.”

Introduction

In order to determine the nature of the human embryo, we need to know its biological, anthropological, philosophical, and even its legal reality. In our opinion, however, the anthropological, philosophical and legal reality of the embryo — the basis of its human rights — must be built upon its biological reality (see also HERE).

Consequently, one of the most widely debated topics in the field of bioethics is to determine when human life begins, and particularly to define the biological status of the human embryo, particularly the early embryo, i.e. from impregnation of the egg by the sperm until its implantation in the maternal endometrium.

Irrespective of this, though, this need to define when human life begins (see our article  is also due to the fact that during the early stages of human life — approximately during its first 14 days — this young embryo is subject to extensive and diverse threats that, in many cases, lead to its destruction (see HERE).

These threats affect embryos created naturally, mainly through the use of drugs or technical procedures used in the control of human fertility that act via an anti-implantation mechanism, especially intrauterine devices (as DIU); this is also the case of drugs used in emergency contraception, such as levonorgestrel or ulipristal-based drugs (see HERE), because both act via an anti-implantation mechanism in most of the time.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Should We Cure Genetic Diseases?

June 07, 2017

by Professor Bonnie Steinbock

Should We Cure Genetic Diseases?

In “Trying to Embrace a ‘Cure’,” (New York Times, June 4, 2017), Sheila Black notes that in the near future there may be a treatment that could amount to a cure for the genetic illness she and two of her children have — X-linked hypophosphatemia or XLH. Although XLH is not life threatening, it has significant disadvantages, including very short stature (short enough to qualify as a type of dwarfism), crooked legs, poor teeth, difficulty in walking, and pain. A cure would seem to be cause for celebration.

But Ms. Black is ambivalent about the prospect. Although she acknowledges the potential benefits both to individuals and to society, the issue is, for her, complex.

Having a serious disability may enable the development of certain virtues. She writes, “… to be human often entails finding ways to make what appears a disadvantage a point of strength or pride.” Or, as Nietzsche put it,  “That which does not kill us, makes us stronger.”

It’s very likely that having polio made Franklin Roosevelt emotionally more mature and strengthened his character, but would that be a reason to oppose the development of the Salk vaccine? Comedians often credit their talent from having been bullied as children; novelists and playwrights find inspiration in their awful childhoods. Admiring their ability to overcome adversity does not mean being ambivalent about ending bullying and child abuse.

Another reason is that disabilities have created communities that are a source of support and identity.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

Ten years since the discovery of iPS cells. The current state of their clinical application

Photo Neurons derived from human iPS cells Stem Cells Australia

Background

Few biomedical discoveries in recent decades have raised so many expectations as the achievement of adult reprogrammed cells or induced pluripotent stem (iPS) cells.1

Pluripotent cells are obtained from adult cells from various tissues that, after genetic reprogramming, can dedifferentiate to a pluripotency state similar to that of embryonic cells, which allows for subsequent differentiation into different cell strains.2,3

In our opinion, this discovery is relevant not only to biomedical issues but also to ethical ones, given that iPS cells could replace human embryonic stem cells (see HERE) – whose use raises numerous ethical problems – in biomedical experimentation and in clinical practice. However, after the last 10 years, the use of iPS cells has still not been clarified. A number of expectations have been met, but other mainly clinical expectations are still far from being achieved.

Current research limitations with iPS cells

There is a notable low efficacy in the techniques employed for obtaining a sufficient proportion of iPS cells, which represents a difficulty in its clinical application.4  Another limitation is the incomplete reprogramming, which depends on the type of cell employed,5 and the problems of mutagenesis resulting from inserting exogenous transcription-factor coding genes, which can cause tumors in the employed cells used.6 Recent studies aim to mitigate this effect.7 A clinical trial for treating macular degeneration with retinal pigment epithelium cells derived from autologously obtained iPS cells has recently been halted.8 After an initially successful experience with the first treated patient, the genetic sequencing of the iPS cells obtained from the second patient revealed mutations in 3 different genes, one of which was classified as oncogene in the Catalogue of Somatic Mutations in Cancer.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

The significance of 37

January 30, 2017

The significance of 37

Ana Krivokuca,

MSc in Molecular Biology, PhD in Genetics

Masters in Bioethics, Clarkson University &Icahn School of Medicine at Mount Sinai (exp. June 2017)

It’s a boy! Such a familiar statement but with somewhat peculiar and mysterious echo on the morning of 29th September, 2016. While drinking my first coffee of the day, I am wondering what is so unique about this boy to put him in the headlines of CNN, The Washington Post, The New York Times, The Guardian and every other -post or -times that exist around the world . Aha! ˝World’s first baby born with new ‘three parent’ technique. Ok, this requires a larger cup of coffee….

Even though many believe that all of our genes reside in the nuclei of our cells, it’s more complicated than that. A small part of human genome (only 37 genes compared to an estimated 20,000-25,000 genes in the whole genome) is situated outside the nucleus, in the “energy factories” of the cells called mitochondria. Mutations in one of these 37 genes might cause mitochondria failure, cell damage, and even cell death. Mitochondrial diseases are usually progressive; they manifest differently and affect those parts of the body that have highest energy demands: brain, muscles or heart. These tiny pieces of DNA are inherited only from our mothers. So, each of us inherited these 37 genes from our mother, who inherited them from hers, and so on and so forth through generations.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

The significance of 37 January 30, 2017 Mitochondrial gene transfer (MGT) is a new technique…

January 30, 2017

The significance of 37

Ana Krivokuca,

MSc in Molecular Biology, PhD in Genetics

Masters in Bioethics, Clarkson University &Icahn School of Medicine at Mount Sinai (exp. June 2017)

It’s a boy! Such a familiar statement but with somewhat peculiar and mysterious echo on the morning of 29th September, 2016. While drinking my first coffee of the day, I am wondering what is so unique about this boy to put him in the headlines of CNN, The Washington Post, The New York Times, The Guardian and every other -post or -times that exist around the world . Aha! ˝World’s first baby born with new ‘three parent’ technique. Ok, this requires a larger cup of coffee….

Even though many believe that all of our genes reside in the nuclei of our cells, it’s more complicated than that. A small part of human genome (only 37 genes compared to an estimated 20,000-25,000 genes in the whole genome) is situated outside the nucleus, in the “energy factories” of the cells called mitochondria. Mutations in one of these 37 genes might cause mitochondria failure, cell damage, and even cell death. Mitochondrial diseases are usually progressive; they manifest differently and affect those parts of the body that have highest energy demands: brain, muscles or heart. These tiny pieces of DNA are inherited only from our mothers. So, each of us inherited these 37 genes from our mother, who inherited them from hers, and so on and so forth through generations.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics News

ACMG Urges Caution When Editing Embryo Genomes

January 31, 2017

(The Scientist) – The board of directors of the American College of Medical Genetics and Genomics (ACMG) released a statement last Thursday outlining their concerns about genome editing technologies in Genetics in Medicine (January 26). “Genome editing offers great promise for the future treatment of individuals and families with genetic disorders,” the authors write, “but also raises major technological and ethical issues that must be resolved before clinical application.”

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.