In my view, one of the most impactful events in developmental biology and biomedicine over the past 50 years is the introduction of pluripotency in somatic cells by nuclear reprogramming, creating induced pluripotent stem cells (iPSCs).

The significance of these cells lie in their resemblance to embryonic stem cells (ES cells). ES cells are of great value, but the availability is limited, and the use of them poses certain ethical issues, since they often originate from embryos. The appearance of iPSCs has created great progress in studies that rely on human pluripotent cells. They can be made in larger quantities and originate from somatic cells, solving both issues with availability and ethics of ES cells as well as pluripotent stem cells created by somatic cell nuclear transfer.

iPSCs were first created in 2006 in Japan. Shinya Yamanaka and his group succeeded in producing stem cell-like cells by nuclear reprogramming of somatic cells in vitro using pluripotency associated transcription factors (Oct4, Klf4, Sox2 and c-Myc). In 2012, Shinya Yamanaka and colleague John Gurdon were awarded the Nobel Prize in Physiology and Medicine for their discoveries. Since then the method of reprogramming into pluripotency has significantly improved.

iPSCs have a wide range of applications in research and hold a great potential for future therapeutics.

In developmental studies, they serve as models for human ES cells and the processes these undergo.

Their pluripotency allows them to differentiate into all tissues of the body, so they can serve as model systems for development of both healthy and sick human tissue. By introducing specific mutations, studies of disease development as well as development and screening of potential drugs are also possible.

High hopes exist for their possible therapeutic applications in the future. Autologous cell replacement therapy is valuable as it enhances recovery from trauma and regeneration of damaged tissues. iPSCs also hold great potential for organ transplants. Reprogramming a patient’s somatic cells to pluripotency and differentiating them to grow the cells/organ of interest will end many problems with donor shortage and immune rejection. However, a good deal of research is still necessary before this becomes reality.

All in all, the research made possible by iPSCs has had a great impact on developmental biology and disease studies, and will probably (hopefully) revolutionize therapeutics in the future.

I stumbled upon this article about so-called “three-parent babies” in Bio Detectives:

http://biodetectives.co.uk/news/perspective-on-three-parent-children/

After our class discussion on the importance of conveying scientific progress to the public, this seemed like a great example of the right way to communicate.

The article was published after the hugely media-covered legalization of “three-parent babies” in the UK. It is a response to the concerns of the general public about this new fertilization procedure – concerns sparked by the Church of England deeming it “irresponsible” and “of grave concern”. Using simple terminology while still providing all necessary background information, this article explains the science behind the procedure and the arguments for and against.

“Three-parent babies” are created to save families form inheritable mitochondrial diseases. The pronuclei of the mother oocyte is inserted into a donor egg (with the pronucleus removed) prior to in vitro fertilization with sperm from the father. As a result, the embryo will have nuclear genome from the parents and mitochondrial genome from the donor – the “third parent”. This way, women with mutations in their mitochondrial DNA can have children without the risk of disease.

A lot of apprehension stemmed from the term “three-parent baby”, which sounds unnatural. The article set out to shed light on the actual genetics (that mitochondrial DNA is 0.1% of the genome), using analogies to commonly known therapeutics:

“I guess you could argue that this gives you three parents only to the same extent that an organ transplant makes you two people…”

Most people can relate to the concept of organ transplants. While making this comparison, the authors make sure to state the differences explicitly:

“…the change you make to the children produced by this technique will be passed on to these children’s children, and so on (only if the offspring is female – remember mitochondria are only passed on by the mother)”.

The way they quickly recap how mitochondrial heritage works is subtle, non-condescending and well placed, in case the reader didn’t remember from the introduction.

Scientific concerns, such as increased cancer susceptibility of the children, as well as social concerns of our way towards designer babies, are addressed with reason and humor:

“In order to produce a ‘designer baby’ the nuclear DNA would have to be changed, and that is still completely illegal. It is also a moot point, because you could argue that almost any genetic research […] could facilitate someone one day producing a designer baby. In which case, someone hop in a time machine and pop and tell Mendel to stick to praying and just eat his peas, instead of using them for research!”

After reading this article, every non-geneticist will have sufficient knowledge on the science and the ethics behind this phenomenon to create their own opinion. The authors achieved this by explaining the science with simple language and analogies, while addressing the concerns with a mix of reason and humor.

Prompt: People don’t tend to publish negative results. What problems does this lead to?

Negative results can be of great value. Disproving predictions and theories can help direct the focus of a research project and eliminate “false” possibilities. When journals choose not to publish negative results, a number of different issues arise.

Firstly, there is a cost in time and resources. When important negative results are withheld, every scientists researching the specific area will need to conduct an experiment on his own to obtain the information. These funds and the time and effort of the researchers could be put to use in other ways if important negative results were accessible through the literature.

There are also consequences for the group producing the results. If their data is not publishable, despite stemming from high quality research, the group might experience difficulties in acquiring additional funding.

The absence of negative results in scientific literature also has an impact on the literature itself.

New pieces of seemingly plausible and coherent data might be contradicted by previous studies, but perhaps these studies were never published because the results were negative. This way it becomes increasingly difficult to identify “false positives”.

A related, but more general issue is the imbalance created in literature when it only represents a fraction of the research – the fraction that yielded positive results. The published information shapes our current understanding of research fields, and these views and paradigms serve as framework for assessing data quality and selecting future publications.

Data is more likely to be published if it is coherent (compatible with the current knowledge). If our general understanding is not representative of all the research conducted around the world, then future publications will not be either. This creates an imbalance in literature, strengthening certain paradigms and rejecting others. Needless to say, this is not optimal for a learning community.

You have been working on developing a novel, testable question on a gene
regulation-related topic. What is the most challenging aspect of it and why?

The most challenging part of developing a specific, testable question, was identifying whether the results of the experiment would have an impact on the research field.
As a university student, not yet having been part of the research world, I find it difficult to distinguish between highly relevant and important data, and data of lesser significance.
I feel I don’t have any experience in developing projects, deciding which experiments are important and which are dispensable.

Figuring out if my question had already been answered by previous published experiments took a lot of time. I concluded that it had not been, and so I thought: Have I actually identified a novel and relevant question? Or is the reason no one has investigated it because it is of no significance at all?