Tag: huntington disease

Bioethics Blogs

Neuroimaging in Predicting and Detecting Neurodegenerative Diseases and Mental Disorders

By Anayelly Medina

This post was written as part of a class assignment from students who took a neuroethics course with Dr. Rommelfanger in Paris of Summer 2016.

Anayelly is a Senior at Emory University majoring in Neuroscience and Behavioral Biology. 

If your doctor told you they could determine whether or not you would develop a neurodegenerative disease or mental disorder in the future through a brain scan, would you undergo the process? Detecting the predisposition to or possible development of disorders or diseases not only in adults but also in fetuses through genetic testing (i.e. preimplantation genetics) has been a topic of continued discussion and debate [2]. Furthermore, questions regarding the ethical implications of predictive genetic testing have been addressed by many over the past years [4,8]. However, more recently, neuroimaging and its possible use in detecting predispositions to neurodegenerative diseases as well as mental disorders has come to light. The ethical questions raised by the use of predictive neuroimaging technologies are similar to those posed by predictive genetic testing; nevertheless, given that the brain is the main structure analyzed and affected by these neurodegenerative and mental disorders, different questions (from those posed by predictive genetic testing) have also surfaced.

Computerized Axial Tomography (CAT), Positron Emission Tomography (PET) and radioactive tracers, Magnetic Resonance Imaging (MRI), and Functional Magnetic Resonance Imaging (fMRI) are all current neuroimaging technologies used in the field of neuroscience. While each of these technologies function differently, they ultimately all provide information on brain functioning or structure. Furthermore, these neuroscientific instruments have, in recent years, been used to explore the brain in order to determine predictive markers for neurodegenerative diseases and mental disorders, such as Parkinson’s disease, Schizophrenia, Huntington’s disease, and Alzheimer’s disease [1,9,11,12].

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

CRISPR/Cas9 for the treatment of haemophilia and other hereditary diseases is being investigated

CRISPR/Cas9 a genetic practise

The use of CRISPR/Cas9 , to which we have often referred in Bioethics News (see HERE), in reference to the fact that it could be used to cure diseases due to an alteration in a single gene, is being investigated to treat haemophilia and other hereditary diseases. An article has now been published (Science (2015) DOI:101126/Science. aad5143) on its use for treating Duchenne muscular dystrophy in mice, which undoubtedly paves the way for its possible use in humans. If so, diseases like haemophilia, Huntington disease and other diseases caused by the alteration of a single gene could be treated by CRISP/Cas9.

La entrada CRISPR/Cas9 for the treatment of haemophilia and other hereditary diseases is being investigated aparece primero en Observatorio de Bioética, UCV.

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

Press Release: The moral imperative to research editing embryos: The need to modify Nature and Science

The first study in which the DNA of human embryos was intentionally modified has been published in the journal Protein & Cell, released on Saturday. This research is significant because it may be an important step toward a world where we are free from genetic disease. However allegations that Nature and Science refused to publish this research on ethical grounds are concerning.

The Director of the Oxford Uehiro Centre for Practical Ethics Professor Julian Savulescu has called on Nature and Science to clearly explain their editorial decisions in relation this study.

“If these studies were rejected for ethical reasons we need to know what these reasons are.” Professor Savulescu said.

“There was absolutely no potential for this research to directly result in the birth of a modified human and it is unclear how the study could have harmed or wronged anyone.

Nature should explain why it deems this research ethically problematic, and yet publishes other controversial research, involving viruses, with the potential to directly kill millions of people.”

The study by Huang and co-authors represents a small but important step in advancing gene editing techniques and understanding their risks. Gene editing techniques hold the promise of curing genetic defects such as cystic fibrosis, thalassaemia, Huntington Disease, and some forms of Alzheimer’s disease.

The reasons for pursuing research which may one day allow for the eradication of genetic diseases are clear. However the authors of the study have reported they were rejected by Nature and Science on ethical grounds.

This follows Nature and Science both publishing commentaries calling for a moratorium on this type of research, or for it to be strongly discouraged. 

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 ETHICS OF EMBRYO EDITING

Darlei Dall’Agnol

 The British Parliament has, recently, passed Act 1990 making possible what is, misleadingly, called “three parents babies,” which will become law in October 2015. Thus, the UK is the first country to allow the transfer of genetic material from an embryo or an egg that has defects in the mitochondrial DNA to generate a healthy baby. As it is perhaps known, a defect in the mitochondrial DNA causes several genetic disorders such as heart and liver failure, blindness, hearing loss, etc. Babies free from these genetic problems are expected to be born next year. This is good news and shows how science and technology can really work for human benefit.

This procedure raised several concerns, but also revealed confusion and misunderstandings in public debates. There was the fear of opening the way to Nazi practices considered intrinsically immoral. This is certainly not the case since the prevention of mitochondrial defects does not, strictly speaking, involves any gene editing, which is a different kind of genetic engineering.[1] Now, embryo editing, which will be illustrated soon, does divide scientists and ethicists and needs further public debate. I will here present some real ethical concerns relating to embryo editing and to comment on the recent call, published by Nature, for a moratorium on the germline experiments.

To start with, let me ask: is mitochondrial DNA transfer a kind of eugenic procedure? Well, in the literal sense “Yes” (good genes), but it represents only what some bioethicists call “negative” or “curative eugenics” not positive enhancement. Now, leaving slippery-slope concerns aside for a moment, there is consensus among ethicists that negative eugenics is permissible and even morally required by the prima facie bioethical principle of non-maleficence, namely harm must be prevented.

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

Editing the germline – a time for reason, not emotion

Gyngell, Douglas, Savulescu

There are rumours in the scientific community that the first studies involving the genetic modification of a human embryo are about to be published.[1] If true this would be the first case of an experiment in which genes in germ cells (sperm and egg cells) have been intentionally modified.  This has caused some concerns in the scientific community due to the fact that these modification are potentially heritable.  A commentary in Nature, (written by four leading scientists and one philosopher) published an appeal that we “Don’t edit the human germ line”.  Science meanwhile published a commentary which outlines “A prudent path forward for genomic engineering and germline gene modification”. The fact that two of the world’s most prestigious journals are publishing commentaries on human genetic modification shows just how powerful gene editing techniques have become. The rapid speed with which these technologies have developed has taken the scientific community, and everyone else, by surprise. Just three years after the DNA cutting nuclease Cas-9 was first used to modify DNA, scientists have been able to make heritable modifications to yeast, plants, mice, rats, pigs and even primates. It has been claimed that experiments conducted in China, currently under review, have used these same technologies to modify the DNA of human embryos.[2]

Although the reality of human germline modification may be a surprise, we should resist making any knee-jerk reactions or judgements. Both the Nature and Science commentaries do just this, and fail to provide a good starting point for an informed discussion about the ethics of germline editing. 

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

Universal Newborn Genome Sequencing and Generation Alpha

I have been struggling with why the idea – and likely coming reality – of universal newborn genome sequencing disturbs me. It’s finally crystallized: the practice could create a genetic underclass.

On the day that genome sequencing of all newborns begins, a cohort of individuals about whom a tremendous amount of personal information exists will be instantly created. At the same time, the practice will establish a shrinking cohort of most of the rest of us who do not know our genome information.

A century from now, possibly everyone will have access to her or his genome data. But until then, how can we prepare to handle the avalanche of information of what I’d call, if I were a science fiction writer, “generation Alpha?”

My idea of the Alphas is inspired by the 1992 dystopian novel The Children of Men, by P.D. James. In 1994, all human sperm suddenly die, and 1995 becomes Year Omega. After that, populations plummet in the face of global infertility, with the last remaining people, the Omegas, struggling towards inevitable extinction.

What will happen in our world as the Alphas age? For now, mining sequenced genomes is experimental and seeks to end the “diagnostic odysseys” endured by patients, typically children with rare or one-of-a-kind diseases . But just as opening a magazine can reveal much more than the article one is looking for, a genome sequence provides hundreds of thousands of gene variants that might mean something about a person’s health. And so the American College of Medical Genetics and Genomics lists 56 “actionable” secondary (“incidental”) conditions, a minimal menu of conditions which doctors can prevent or treat.

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

Predicting Alzheimer’s Disease: Potential Ethical, Legal, and Social Consequences

(This post oriignally appeared, in very slightly different form,  in the Neuroethics Blog on June 17, 2014, here.)

Would you want to know the date and time of your death? Life-Line, the first published fiction by Robert A. Heinlein, one of the giants of 20th century science fiction, explored that question. The story’s protagonist, Hugo Pinero, had invented a machine that could tell precisely when individuals would die, but, as Pinero found to his distress, he could not intervene to change their fates.

Would you want to know whether you would be diagnosed with Alzheimer disease (AD)? This question is rapidly leaving the realm of science fiction; indeed, it already has for some unlucky people. Our ability to predict who will suffer from this evil (and I chose that word carefully) condition is proceeding on several fronts and may already be coming into clinical use.

This post will briefly note the ways in which AD prediction is advancing and what some of the ethical, legal, and social implications of such an ability would be, before asking “should we care?”

Science

Several different techniques are providing information about an individual’s risk of being diagnosed with AD, including genetics, biomarkers, and neuroimaging.

Genetics can predict AD with great confidence for about one person in a thousand. People who carry a mutated version of the PS1 gene (or, much more rarely, mutated versions of the PS2 or APP genes) are nearly certain to be diagnosed with AD, unless they die earlier from something else, and with an early onset version that typically strikes in one’s 40s or 50s.

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

Predicting Alzheimer’s Disease: Potential Ethical, Legal, and Social Consequences

By Henry T. Greely, J.D.


Henry T. (Hank) Greely is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University. He directs the Stanford Center for Law and the Biosciences and the new Stanford Program in Neuroscience and Society  SPINS). He is also a member of the AJOB Neuroscience Editorial Board.

Would you want to know the date and time of your death? Life-Line, the first published fiction by Robert A. Heinlein, one of the giants of 20th century science fiction, explored that question. The story’s protagonist, Hugo Pinero, had invented a machine that could tell precisely when individuals would die, but, as Pinero found to his distress, he could not intervene to change their fates.

Would you want to know whether you would be diagnosed with Alzheimer disease (AD)? This question is rapidly leaving the realm of science fiction; indeed, it already has for some unlucky people. Our ability to predict who will suffer from this evil (and I chose that word carefully) condition is proceeding on several fronts and may already be coming into clinical use.

This post will briefly note the ways in which AD prediction is advancing and what some of the ethical, legal, and social implications of such an ability would be, before asking “should we care?”

Via the BBC


Science

Several different techniques are providing information about an individual’s risk of being diagnosed with AD, including genetics, biomarkers, and neuroimaging.

Genetics can predict AD with great confidence for about one person in a thousand.

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.