Recognizing Women in Science and Medicine

Genetics is a young specialty and was organized when there were already growing numbers of women in science and medicine. It was possible, if still not actually easy, for younger women to find female scientist role models.

Dr. Barbara McClintock won the Nobel Prize in Physiology or Medicine my junior year in college. Those now in training or early career stages have no trouble pointing to internationally recognized women geneticists. On the other hand, in college genetics we learned about Hershey and Chase and their experiment proving DNA to be the heritable material, but not that Chase’s first name was Martha.

“Recognizing that women and girls play a critical role in science and technology communities and that their participation should be strengthened,” in 2015, the United Nations and UNESCO declared February 11 the International Day of Women and Girls in Science. In 2021, the theme for celebration was “Women scientists at the forefront of the fight against COVID-19”. We could start that list with Dr. Katalin Kariko, who worked for years to prove the usefulness of the mRNA vaccines that are now saving lives around the world; and continue from other women basic scientists all the way to front line health care workers giving those vaccines.

Anonymized Applications

We read frequently these days about the first woman to win an important recognition. She is the first female winner of a prestigious award. She is the first woman elected leader of her country.  She is the first woman to be accepted into a rigorous program. As much as this is a celebration of the woman’s achievement, it is more a unfavorable comment on those who had left women off the list for so long. It is still necessary to anonymize applications in a variety of fields to give women and those identifying as female the same chance as males. The default remains to think of men first. “There is a posting going around social media asking who one would want narrating their life. Even the women name a man (I pick Helen Mirren).”

Overlooked Recognition

A few years ago, I worked with a medical dictionary to review and update their genetics-related entries. This dictionary has a number of two-line biographies of famous medical scientists. Only two were women. Not just in the genetics entries — in the entire tome there were only two women. One was Cornelia de Lange, after whom a genetic syndrome is named. The other was Marie Curie, who needs no introduction, and she was not even granted her own entry: she had to share it with her husband. This had to change. A call went out to women geneticists for a list of names.

There quickly emerged a roster of forty-nine women who had made major contributions to our field alone. These women are known for important genetic discoveries, for authoring text or reference books, for describing new syndromes that now bear their name, and for being tremendous teachers and mentors. It was and is also striking how many of these women are still discovering, authoring, describing, and teaching.

Positive Feedback Loop

These living role models may be more important than the pioneers. They can be mentors, collaborators, and colleagues in ways that historic figures cannot. Hopefully as more women are involved in science, there will be a positive feed-back loop. More women in STEM will be role models for the next generation, who will support the generation after that, and so on. Women will see female role models. Men will, too. This is how biases are abolished. This is how female names appear on candidate lists without the nominating committee actively seeking them.

When Dr. Sally Ride was the first US woman astronaut, I saved a newspaper letter-to-the-editor that pointed out that women will not have gained true equality until they can be astronauts, or supreme court justices, or ??? and nobody notices. To this I would add that women, and those identifying as female, will really have equity when their names appear on a list of famous scientists without someone having to incorporate them by conscious effort. Until that time, Molecular Syndromology would like to highlight the work of women in our field; to be conscious of including them so that someday we will include them unconsciously.

women in science_angela scheuerle

From Patients for Patients: Best in Class Example of Customer Centricity

Filling educational gaps is what the Fast Facts series does best, particularly in the rare disease space. So how do we do it?

You may be unfamiliar with pyruvate kinase deficiency (PKD). It is a rare inherited enzyme disorder that affects the glycolytic pathway used by red blood cells to generate energy, manifesting as hemolytic anemia. The symptoms vary greatly between individuals, making diagnosis difficult, and management primarily comprises supportive treatments.

pyruvate kinase deficiency symptoms

Given the rarity of the condition, there was little available ‘published’ resources for clinicians and patients to access outside of traditional research papers. To help close the educational gap and raise awareness of this disease state, with the support of a medical educational grant Karger commissioned a suite of accessible book publications for both the patient and professional audience.

Engaging the Clinical Community

We reached out and brought together subject matter experts from the US and Europe to produce a balanced, multi-perspective, international overview of the disease state. For patient input and feedback, we used social media. Through this method we discovered that there was a globally active patient forum and as the result of our outreach they kindly provided us with some guidance about what their needs were with regards to content and education. The forum was very receptive to being involved in the development of these resources, especially given the lack of available information on the topic.

Our engagement with the group proved very useful particularly for the patient booklet as we were able to seek input and feedback from patients during the writing phase, which brought up some interesting insights, especially around the ‘level’ of the content i.e. the level of language used and what terminology to include. There was a consensus among some parties that the initial draft that we developed was too high-level for a patient audience. However, when we put the draft to the patient forum, they insisted that we don’t remove any of the technical information or water it down in any way. PKD being a life-long condition, they wanted a resource that gave them all the facts – a true reference guide. It was seen as a resource that they could use with their clinicians, particularly those with little or no knowledge of PKD, for example when visiting the GP to help explain their condition and provide them with a quick succinct overview.

Medical Language Deciphered in Plain English

The instruction from the forum to us was clear – translate the science.

Inevitably this is what we did, creating a highly illustrated workbook, with pull-outs and space to write notes, designed to help patients equip themselves with the best information about their condition to improve the conversations they have about it with their doctors and nurses. The success of this approach was underlined by British Medical Association Patient Information Awards committee – where the booklet received a ‘highly commended’ award.

Soon we found there was a demand from both clinicians and patients to have these materials available in local languages – which we duly delivered. We translated and published the booklets in Spanish, French, Italian and German and in doing so sought feedback from local experts and patients to ensure that material was relevant for the local audience.


A real plus point of engaging a medical publisher in the development of educational resources is that the resources are then ‘published’, in the sense they have an ISBN, making them truly enduring and discoverable from a range of platforms including Amazon and Google books.

With our free-of-cost model, access to Fast Facts materials has no limitation; both patients and clinicians can download resources for free. This in turn helps us to achieve maximum uptake and visibility, which again is particularly important for rare diseases. Interestingly, since we made Fast Facts free of charge, PKD has been one of the top 10 most downloaded resources from the Karger platform! Great for disease awareness, especially for rare conditions such as this one.

Want to know more about PKD or other diseases? Check out Karger’s collection of free Fast Facts materials.

From the Microscope to the Internet – Digitizing ISCN

ISCN Online is the digital companion to Karger’s Human Cytogenomic Nomenclature (ISCN 2020) book. This convenient and continuously up-to-date resource also adds value for readers by offering ways to interact with the scientists behind the nomenclature. One year after its market launch we can look back on this venture as a success.

The International System for Human Cytogenomic Nomenclature (ISCN) has earned its place next to thousands of microscopes in genetics labs since it was first published in 1963. Geneticists, molecular biologists, lab technicians, and students use it as an indispensable reference for standardized descriptions of anomalies of the human genome.

Working on the 2020 edition of ISCN, the editors and the standing committee, together with us as the publisher, resolved that it was high time to bring this established reference work online. Thus ISCN Online was born.

ISCN 2020 physical Book Cover

An International System for Human Cytogenomic Nomenclature (2020)

Three concepts, derived from a deep look into the needs and use cases of genetics professionals, were front and center during the design phase of the new platform: convenience, currency, and interaction.

Hyperlinks and Search Function

First, convenience. We knew from the outset that a book sitting next to the microscope, maybe with a lot of notes and bookmarks added over time, would be hard to beat in terms of usability. ISCN users tend to have “grown up” with the book, and many have perfected their use of it in their daily work over many years.

In the light of this, we focused on the things a printed book can’t easily do. On ISCN Online, users navigate an HTML version of the ISCN content with the table of contents constantly at their fingertips. All footnotes and references are hyperlinked. Alternatively, they can use a powerful search function to locate relevant parts effortlessly.

Second, currency. Genetics and genomics are rapidly evolving fields, with new concepts and techniques being added continuously. Given the typical period of 4-5 years between editions of the book, keeping ISCN more up-to-date through its digital companion was an obvious step to take. ISCN Online publishes addenda to the nomenclature at the right place in the originally published content of the book. This allows users to locate and understand these changes in their direct context and not miss any improvements in the parts of ISCN they work with most.

Interaction around the Globe

Also, no published book is free of mistakes. ISCN Online flags and corrects errata almost in real time and in their direct context. Moreover, in parallel to this and for a broader audience, errata are regularly published on a public web page and as a Free Access article in the Karger journal Cytogenetic and Genome Research.

Third, interaction. ISCN is a working tool for thousands of users out there. We want to make every effort to ensure the nomenclature serves them best. They may have questions regarding its use, and, even more importantly, they may have suggestions how to further develop and improve it. The ISCN Forum allows users to interact directly with the editors and the standing committee of ISCN as well as fellow users across the globe. As the online community grows, we are seeing more and more fruitful discussions happening, creating a win-win situation for the users and ISCN alike.

Each ISCN 2020 book comes with a unique code giving free and unlimited access to ISCN Online for one year after activation. This initial period can be extended in different ways once it expires. For individual users who want to use ISCN Online as a full replacement for the ISCN book, an online license is also available, covering the full period until the next version of ISCN is released – or much longer if users choose the perpetual license.

Digital Work Tools

One year in, we’re pleased with how the usage of ISCN Online has grown and especially with how the level of interaction is steadily increasing. Currently, the ISCN Forum and the addenda/errata published in their direct context seem to be more of a motivation to access ISCN Online than the content itself. This comes as no surprise, though, as the main use case for ISCN – having the book next to the microscope as a reference – is here to stay, and for good reasons. Its digital companion ISCN Online provides added value in terms of convenience, currency and interaction, giving users the best of both worlds.

In the future, ISCN Online will make the life of ISCN users even easier through the addition of digital work tools like a karyotyping builder/parser (already available in a beta version) and the integration of a similar tool covering the HGVS nomenclature that was recently added to the publication.

Stay tuned!