The Morals and the Ethics of it

[Content Note: medical procedure descriptions]

Last Wednesday, Newt Gingrich engaged in some ridiculous hyperbole in order to woo anti-science fundamentalists in today's Florida primary. Which is not particularly news, true. The topic Gingrich was speaking on was Embryonic Stem Cell Research (ESCR) and he said that ESCR is “the use of science to desensitize society over the killing of babies” (unsurprisingly this is contrary to what he's said in the past, as WaPo points out). Gingrich wants a commission to investigate IVF clinics in regards to embryos, storage, and disposal--to overall "investigate their ethics". Gingrich's is an opinion shared by not a few people--and thus why he trotted it out to try and garner votes. Also, rather ironically, that same week, news broke that there are signs of promise in using embryonic stem cells in the treatment of blindness.

For all the talk about ESCR and other embryonic research, it seems not many know just what can occur or what can be studied or what real outcomes have the potential to be. Well, here is one concrete example, of which Gingrich would no doubt--now, for conservative votes-- regard as wanton "baby killing".

At the start of this month (January), I became a participant in a research study regarding mitochondrial DNA (mtDNA) disease; I started the process of being an egg donor*.

For further explanation (from my paperwork from the study):

In human cells, including a female’s egg cells, there are two main types of genetic materials present. These materials, called genes or DNA, are passed on from parent to child and help determine the make-up of the child’s body and mind.

Nuclear Genes/DNA are housed in structures called chromosomes in a cell part called the nucleus. The vast majority of a cell’s DNA is this type. Humans have about 25,000 nuclear genes per cell.

Mitochondrial (mt) DNA is found in mitochondria, a different cell compartment than the nucleus. This type of DNA is passed only from mother to child. The father normally does not pass it on. This type of DNA ensures that the mitochondria are able to do their job as the energy makers of the cell. Humans have only 37 genes in their mitochondria.

When there are mutations (defects) in the mtDNA and the mother passes it on to the child, very serious human disorders can result, including seizures, strokes, dementia, liver failure, muscle weakness, blindness, deafness and diabetes. Available treatments can only improve symptoms and slow down the diseases. There are currently no cures for mitochondrial disorders.

The point of the study is to see if it is possible in humans--as has been proven possible in rhesus monkeys--to transplant nuclear DNA from an affected egg to a healthy egg and thus enable a child to be born who is not affected by mitochondrial disease. If this is hard to imagine, think of a chicken egg where the nuclear DNA is the yolk and mitochondrial DNA is the white. It's a yolk transplant into a non-affected egg white. Eventually the egg would then be fertilized and potentially (hopefully) develop into a non-mtDNA disease affected person.

The study is the first ever of its sort in humans. Gene line therapy is not yet approved by the FDA, the goal now is to: 1. see if the procedure works in human genetic material; 2. make sure that it is safe and effective. None of these donated eggs will ever become part of a pregnancy. After fertilization in the lab, some will be destroyed and others will go on to:

...[B]e used to derive embryonic stem (ES) cells. ES cells are a type of cell that have the ability to form many different types of cells. They also do not stop regenerating. ES cells are made by growing embryos with feeder cells in a Petri dish. These special feeder cells cause the embryo to keep growing as a cluster of cells instead of developing into a human fetus. Because the ES cells do not stop regenerating themselves, they will provide a renewable source of cells that will allow us to conduct a variety of safety studies on germ line gene therapy. We hope that this study will generate the critical information needed to obtain the FDA’s approval of germ line gene therapy and to support future clinical trials

To Newt's current opinion and those people he's trying to court votes from, all of this is terrible. Evil. "Playing God". "Killing babies". They do not see if for what it is and can be: helping save babies. Save people. Many children born with mtDNA disease do not live long; they are born seemingly typical and their bodies shut down slowly over time. To Newt et al, I say watch this video:



You can also read the Shaprio family's story here. From Stephanie Shaprio:

I am aware my children will die some day in the near future. I have attended the funerals of far too many children. I have sat during services praying my children won't be next.

For us, every day is a gift. Through awareness and research, I do see a day where parents will receive a diagnosis and continue to save for college rather than their child's funeral.

I pray for a cure. I hope and pray other families do not have to go through the heartache we have endured. Currently there is no cure for mitochondrial disease.

It is a nasty, progressive monster. In the five years since my family has begun this journey, I have watched research towards a cure increase, as well as awareness. This is the proof of a better future for children and adults struggling with this disease. It is proof tomorrow can be a better day.

Now let's talk about who is ultimately "killing babies", Newt.

Video transcript:

Dr. Sanjay Gupta: Playing god is a criticism often directed at those pushing the boundaries of genetic science. You could say these baby monkeys are the product of just such a push. You could say they’re the next frontier to prevent genetic disease in humans.

Stephanie Shapiro: We never in a million years though that we would be in this type of a situation. We just thought that we would have this houseful of these beautiful, healthy children and that would be the end of it.

Dad (taking son): Hey buddy.

Stephanie: (picks up food & medical equipment) All right, I got his food. You lead the way.

(Stephanie voiceover as they show part of day routine) Hannah and Jake are on twenty-four hour feeding tubes. They’re fed through a tube in their stomach.

Stephanie: (talking to Jake) Awww, it’s ok. (to camera) That’s a seizure.

(Stephanie voiceover) They can have 300 to 500 seizures a day.

Stephanie The rule in our house is “is she pink? is she pink? has she turned blue yet?" .... That’s basically our idea of how bad the seizures are.


Gupta (voiceover): This is what parenting looks like when your children have mitochondrial disease.

Stephanie: When we got the official diagnosis on Hannah, I was eight months pregnant with our son. I said: “Mito-? Mito-what? This is what she has?”. And the doctor pointed at my belly and he said: "If you had known then what you know now, would you have made different reproductive choices? Because that child probably has it too." And...and that’s when we knew that it’s genetically linked.

Gupta (voiceover during Jake’s play therapy): Mitochondrial diseases sometimes pass from mother to child, as in Stephanie’s case. It affects multiple organs because mitochondria, that’s the part of the cell that generates energy, are found in almost every cell in the body. Without mitochondria, the body would stop functioning. The disease is under-diagnosed because the symptoms are extremely diverse and often mistaken for other diseases.

In fact, Stephanie has the disease but does not have any symptoms.

Stephanie: We have a room that is our Medical Supply Room. (opening cabinets) And these are all of our daily things that we need to have: formula, syringes, suction equipment... (holds up package) This is a g-tube kit. Gauzes...

Gupta (voiceover): Treatment only reduces symptoms and there is no cure. It is a progressive disease which means you get sicker as you get older.

(At Oregon Health Science University; Portland, Oregon)

Dr. Shoukhrat Mitalipov: So how many [garbled] today?

Research Assistant: About sixty.

Doctor: Wow.

Gupta (voiceover): Scientists in the state of Oregon recently pioneered a breakthrough technique with women like Stephanie in mind.

Dr. Mitalipov (Lead Scientist): What’s exciting for me is that even if we find treatment that will cure one disease--or even just one person--I think that’s a really big achievement.

Gupta (voiceover, monkeys): Baby monkeys, Mito and Tracker, were made from the genetic material from two mothers. That’s an advance that could one day help women with mitochondrial disease have healthy children. The technique allowed Mito and Tracker’s mother to pass on most of her genetic material minus that damaged mitochondrial DNA.

Dr. Mitalipov (on smartboard or similar): What we have is egg from a patient...

Gupta (voiceover): If this were ever possible in humans, it would mean a mother with a mitochondrial mutation could still pass on inherited genetic characteristics like eye color, hair color, and range of intelligence without passing on the disease.

(animated depiction of procedure) Here’s what the procedure looks like....

A mother’s egg has it’s healthy nuclear DNA removed and transplanted into a healthy donor egg. The donor’s egg nuclear DNA is eliminated because it’s not needed but its mitochondrial DNA remains intact. Now since the mother’s mitochondrial DNA is damaged, it’s not transferred. The egg is then fertilized by the father’s sperm and will become the biological child of the parents free from internal mutations.

Dr. Mitalipov: This is main embryology lab. This is where the...all...magic is done.

Gupta (voiceover): Here monkey eggs undergo the mitochondrial gene replacement procedure. The manipulated eggs are then fertilized and in a few days, those eggs are ready for transplantation.

Dr. Mitalipov (pointing at slide): You can see the small, tiny drop? There’s actually about 20 eggs there.

Gupta (voiceover): Tiny tools hold the eggs steady. A laser penetrates a microscopic hole in the egg. And then a micro-pipette enters and removes the egg’s nucleus for the genes that are being transferred to the donor egg.

Dr. Mitalipov: Every disease...it is better to prevent it. To treat before it actually happens.

Gupta (voiceover): The work is not without controversy. And if it’s one day applied to humans, there could be children with three genetic parents. And that could create the potential for legal and social conflicts. And critics worry that genetic manipulation could give rise to a market in elective genetic enhancements.

(Back to Stephanie reading Where the Wild Things Are)

But for Stephanie, the possibility is enticing.

Stephanie: We definitely want to have more children. But it’s a really difficult choice for our family to make.

I just can’t risk it. It scares me. It scares me, so we have to look at other alternatives to having a child.

The idea that we could take my DNA and make it healthy....is really exciting. Certainly people are going to say that there’s moral issues and there’s ethics issues in that and and a part of me says you know what? Come spend a day at my house and then we’ll talk about the morals and the ethics of it.

* I did not finish the donation cycle because, unfortunately, the stimulation medication did not stimulate egg production enough (there were plenty of them but they weren't growing fast enough), at the very end.