On the 7th of October, 5 members of the DMD Genetic Therapy group and some of their family members raised €1000 for the Prinses Beatrix Spierfonds by participating in the 20 km Oranjepad walk, drawing attention to fight against muscle diseases. It was a very nice walk through the beautiful forests of Utrecht, including the Hoge Vuursche, the Lage Vuursche and the Baarnse Bos, leading to the endpoint Paleis Soestdijk.

We are very happy that we were able to be part of this beautiful walk and helped raise money for more research into muscle diseases!


On the 7th of September 2023 it was World Duchenne Awareness Day (WDAD). This year the theme of WDAD was Breaking Barriers. People living with Duchenne muscular dystrophy (DMD) face physical, healthcare and social barriers. This severely limits their ability to participate fully in community life and activities. On September 7th we take responsibility and help break down barriers for people living with DMD.

Our group is Breaking Barriers using lab equipment

The World Duchenne Organization (WDO) launched a documentary about Breaking Barriers on September 7. The documentary portrays people living with Duchenne, their families and how they overcome barriers. The documentary can be found on the website of the WDO.

The information and picture is adapted from the World Duchenne Organization.


On a sunny day in June it was time for the first DMD Genetic Therapy group retreat: an opportunity for our team members to come together, away from the lab and their typical responsibilities. 

For the scientific sessions we gathered at a very nice location on the canals of Utrecht. The program consisted of a variety of personal and scientific assignments, mini workshops and discussions. It was very nice and useful to get to know each other better and to brainstorm together how we can improve our work. After a full day of discussions, we ended the day at the bowling alley where we had a delicious dinner after bowling.

It was an interesting and educational day and we are looking forward to many more years working together!


The DMD Genetic Therapy group Leiden wishes all its readers all the best for 2023.

With the start of 2023, the coronavirus is disappearing very quickly. People still get infected, but symptoms are mild and only last for a couple of days. We are happy that we are back in the lab full-time and looking forward to a new year with scientific successes!



On the 7th of September 2022 it was World Duchenne Awareness Day (WDAD). This year the theme of WDAD was Women and Duchenne. When talking about Duchenne Muscular Dystrophy, the spotlight is mostly on the boys and men living with Duchenne. With the theme Woman and Duchenne, WDAD 2022 wants to include all women that are involved in DMD. Not only carriers of the mutation and mothers of boys and men with Duchenne, but also other women supporting them, the caregivers, the spouses, the sisters, the clinicians, the scientists and the patient advocates.

The World Duchenne Organization hosted an educational event on Women and Duchenne on September 7, 15:00 CEST. In this event experts shared their experience across care, science, policy, inclusion and research on Woman and Duchenne. The online event is available on the website of the World Duchenne Organisation.

The information and picture is adapted from the World Duchenne Organization.


Once a year we have lunch at our favourite Pancake restaurant in Leiden with all DMD Genetic Therapy group members to celebrate the hard work, dedications and successes of the last year. After three years of lockdowns, vaccinations and social distancing it’s finally here: we we finally able to continue our annual pancake lunch! As our group has grown over the last years it was time for a new group picture as well and we managed to make a nice picture in the Leiden city center together with all our current interns (and a guest-member: a pigeon).


The DMD Genetic Therapy group Leiden wishes all its readers all the best for 2022.

After two years of lockdowns and strict rules we are very positive about the future. In the Netherlands, the number of hospital admissions due to COVID are decreasing so most of the rules are already loosened. Social distancing is still important, but we are very pleased that we are allowed to work in the lab again. We are looking forward to a new year with (hopefully) in-person meetings and conferences, exciting new experiments and scientific successes.



Congratulations to prof. dr. Annemieke Aartsma-Rus for receiving the Outstanding Achievement Award from the Netherlands Society of Gene and Cell Therapy (NVGCT)!

The Netherlands Society of Gene and Cell Therapy (NVGCT) established the Outstanding Achievement Award in 2019. The award honors an individual who has achieved a specific high impact contribution or a lifetime of significant contributions to the field of gene and cell therapy. Prof. dr. Annemieke Aartsma-Rus received this award for her pioneering work in exon skipping therapy development during the award lecture at the annual NVGCT conference in Lunteren.

The information and picture is adapted from the website of the Netherlands Society of Gene & Cell Therapy


After the ceremony was postponed twice due to the pandemic, on September 14th prof. dr. Annemieke Aartsma-Rus received her Ammodo Science Award in an official ceremony at the Muziekgebouw in Amsterdam. The award was handed out by president of Ammodo Steven Perrick and president of the KNAW Ineke Sluiter. The beautiful award consists of 9 pieces of bronze that together make a cube, weighing 2540 grams including the box.

For each laureate Ammodo made a short movie about their work, accomplishments and the motivation of the jury to give the award to that person. The short movie of prof. dr. Annemieke Aartsma-Rus, which is completely filmed in our lab and in her office, can be found here.

The information and picture is adapted from the website of the Ammodo Science Award


On the 7th of September 2021 it was the annual World Duchenne Awareness Day (WDAD). This year the theme of WDAD was Adult Life & Duchenne. Over the last years the life expectancy of individuals affected by Duchenne has increased significantly. An adult life with Duchenne comes with new challenges and opportunities, but also with new medical issues. On WDAD, experts shared their experiences with Duchenne in adult life to inspire and empower Duchenne adults to think about their future.

The World Duchenne Organization hosted a livestream where experts shared their knowledge on DMD/BMD in adult life. The livestream is recorded and available on their website.

The information and picture is adapted from the World Duchenne Organization.


At the beginning of this year Prof. dr. Annemieke Aartsma-Rus started a challenge by reading and commenting on a paper a day sharing her insights, findings and thoughts on interesting papers on several topics. She reads, summarizes and criticizes these papers via her professional Twitter account @oligogirl using the hashtag #apaperaday. The publications she reads are not always directly applicable to her work, but reading publications of other topics sometimes provide a wider perspective.

Papers relevant for Duchenne muscular dystrophy are selected and presented on the website of the World Duchenne Organization.

The information and picture is adapted from the Twitter account of @oligogirl and the website of the World Duchenne Organization


Congratulations to prof. dr. Annemieke Aartsma-Rus for receiving the Ammodo Science Award!

The Ammodo Science Award for fundamental research is intended to reward and support outstanding internationally recognized mid-career scientists working in the Netherlands, who were awarded their PhD no longer than fifteen years ago. Divided over four scientific domains (Biomedical Sciences, Humanities, Natural Sciences and Social Sciences), every two years, eight laureates are awarded a cash prize of 300,000 euros each. This amount can be spent on a fundamental scientific research project at the discretion of the laureate.

The information and picture is adapted from the website of the Ammodo Science Award


Prof. dr. Annemieke Aartsma-Rus and dr. Willeke van Roon-Mom (Neuro-D group), together with other scientists and clinicians from the Leiden University Medical Center (LUMC) and Radboud University Medical Center (Radboudumc), launched the Dutch Center for RNA Therapeutics (DCRT) in February last year.

On the 28th of February, Rare Disease Day 2021, the DCRT existed one year and celebrated this by the launch of their website. The website of the DCRT can be accessed via this link.


The DMD Genetic Therapy group Leiden wishes all its readers all the best for 2021. We look forward to another year of scientific research, interesting results and publications. Let’s hope that 2021 will also bring an end to lockdowns and the global pandemic.

The Netherlands began vaccinating people against COVID-19 in the first week of January. Starting with care workers, people over the age of 60 and people who already have specific serious health conditions, Duchenne patients are vaccinated against COVID-19 since March. Eventually, the vaccine will be offered to everyone aged 18 and over.



With great sadness we learned that prof. dr. Gert-Jan van Ommen, the former head of the Department of Human Genetics of the Leiden University Medical Center (LUMC), passed away on the 7th of November.

Prof. dr. Gert-Jan van Ommen was head of the LUMC Department of Human Genetics for 20 years (1992-2012) and played a key role in the field of human genetics as chair and board member of multiple national, European and international professional organizations and societies. He was an inspiring and involved mentor for a generation of scientists. From the early days Van Ommen was involved in the elucidation of the human genome. First at a gene by gene basis, but later at a broader scale embracing the opportunities next generation sequencing offered. He founded one of the first LUMC research facilities, the Leiden Genome Technology Center, to give LUMC researchers the opportunity to use the latest genomic technologies.

His scientific interests were primarily on Duchenne muscular dystrophy and Huntington Disease. His contribution went beyond discovering the genes involved. As such, he can be considered a translational scientist avant la letre. Under his guidance the exon skipping therapy for genetic diseases Duchenne muscular dystrophin and Huntington flourished. He received multiple internation-al awards for his work. In 2010 van Ommen was knighted in the order of the Dutch Lion (Ridder in de Orde van de Nederlandse Leeuw).

After he became a professor emeritus in 2012, van Ommen was actively involved in the human genetics research and shifted his focus to biobanking. He remained editor of the European Journal of Human Genetics until the end.

We will remember his critical yet creative scientific mind and his endless supply of amusing anecdotes.

The information and picture is adapted from the intranet of the LUMC


Congratulations to dr. Maaike van Putten!

She has been awarded a Vidi grant by the Dutch Research Council (NWO). Vidi is aimed at experienced researchers who have carried out successful research for a number of years after obtaining their PhDs. The grant enables them to develop their own innovative line of research and set up their own research group in the coming five years. Dr. Maaike van Putten will study, in cultured human brain cells, how lack of dystrophin results in abnormalities and to which extent deficits can be remedied by a therapy aimed to restore dystrophin synthesis.

More congratulations to dr. Maaike van Putten: she is officially appointed as assistant professor.


On the 7th of September 2020 it was the 7th annual World Duchenne Awareness Day (WDAD). This year the theme was Duchenne and the brain. The dystrophin protein that is missing in muscle causing muscle breakdown, is also missing in the brain. This is causing problems such as learning difficulties or behavioural issues such as ADD, ADHD, OCD and autism. For many families in day to day life, this is causing more stress and worries than the physical problems.

The World Duchenne Organization hosted a livestream where experts shared their knowledge on DMD/BMD and the brain. The livestream is recorded and available on their website.

The information and picture is adapted from the World Duchenne Organization.


Congratulations to dr. Pietro Spitali for publishing an article in the research journal PNAS!

Proceedings of the National Academy of Sciences (PNAS) is one of the most prestigious and highly cited multidisciplinary research journals. In this article dr. Spitali describes that the DMD-gene is barely transcribed in Duchenne patients, leading to less dystrophin mRNA present in muscle cells. This finding may have consequences for the development of therapies that focus on the (pre-)mRNA.

More information about the article can be read here.


Every year Duchenne Parent Project Netherlands organizes the Duchenne Congress, special for parents, (para)medici and other people interested in Duchenne. During this congress the audience learns more about ongoing research, care and the future. Parents also have time to talk to each other and to exchange ideas. There is a special program for the Duchenne patients and their brothers and sisters.

Unfortunately, due to the COVID-19 pandemic it was not possible to organise the yearly Duchenne Congress this year. Instead the Duchenne Parent Projects Netherlands organised an online Duchenne Festival. In 8 days all participants received Duchenne related information during short online sessions. On the last day of the festival there was a live closing event, including a presentation about neuropsychology from Jos Hendriksen and a talk about the future for Duchenne patients with members from Duchenne Centre NL: Annemieke Aartsma-Rus, Jan Verschuuren, Jos Hendriksen and Imelda de Groot.

The information and picture is adapted from Duchenne Parent Project the Netherlands.


In the Netherlands, the government implemented an ‘intelligent lockdown’ in March. Everyone was urged to work from home and stay at home as much as possible. We were allowed to go outside for urgent matters such as grocery shopping, as long as we kept a distance of 1.5 meters to others.

From that moments onwards, all our group members were forced to work from home. We were not allowed to come to the LUMC anymore, and crucial, long term experiments (e.g. cell culturing) had to be finished as soon as possible.

Since we all love to work in the lab it was quite hard to work from home for some of our group members. With children and/or partners at home, the concentration was sometimes hard to find. But during this period we also finally had time to finish unfinished projects, to write interesting papers and reviews, to analyse data we generated in the past, and so on. We even welcomed a new member in our group!

On May 8th we were (finally) allowed to slowly start up lab work, but with some strict measures. There is a maximum of people per lab, depending on the size of the lab. Meetings and congresses still have to be done online, and if we show any symptoms of COVID-19, we have to get tested directly.

And of course, also in the LUMC we have to keep the distance of 1.5 meters, so we are pleased that our labs are big enough for all of us.


Prof. dr. Annemieke Aartsma-Rus and dr. Willeke van Roon-Mom (Neuro-D group), together with other scientists and clinicians from the Leiden University Medical Center (LUMC) and Radboud University Medical Center (Radboudumc), launched the Dutch Center for RNA Therapeutics (DCRT). The aim of this new, virtual center is to develop customised RNA-therapies for patients with rare genomic conditions.

The DCRT will focus on RNA therapy for patients for whom local treatment of the affected tissue is possible. The treatment targets progressive eye, muscle or brain diseases. The focus is on genetic diseases and mutations, which are so rare that pharmaceutical companies have no interest to invest in developing treatments.

In September dr. Dianne Baunbaek will start as Senior Project Manager for the DCRT. More news about the DCRT and a link to the website will follow.



Congratulations to prof. dr. Annemieke Aartsma-Rus for receiving the EURORDIS Black Pearl Scientific Award!

The Scientific Award recognises Professor Aartsma-Rus’ exceptional achievements and dedication in the field of Duchenne Muscular Dystrophy (DMD). She is widely recognised as a world leader in the field of DMD research, as a pioneer who led the path of antisense for others to follow, and as a prolific author of academic publications. By sharing her expertise on numerous EU-funded projects, Professor Aartsma-Rus has demonstrated her total commitment to the rare disease community and to scientific collaboration at a European level.

The information and pictures are adapted from the website of EURORDIS.



On the 7th of September 2019 it was the 6th annual World Duchenne Awareness Day (WDAD). This year the theme was Nutrition; to raise awareness on nutrition and the risk of supplement use in Duchenne. Together with Duchenne Centre in the Netherlands we join forces for optimal care for Duchenne. Another short movie was made to raise awareness for Duchenne and challenges regarding ‘nutrition in Duchenne’.



On Thursday 7th of September 2017 it was World Duchenne Awareness Day (WDAD). Traditionally on this day, worldwide WDAD balloons were released. Our group, together with colleagues from the LUMC who are also involved in Duchenne, released 79 balloons: the amount of exons in the dystrophin gene.

Duchenne Centrum Nederland made a short movie to show that we (researchers, health care workers, patients, patient organisations) stand together for Duchenne in the Netherlands. In this movie a balloon is passed to one another. In this way, the balloon virtually passed people involved in Duchenne around the Netherlands.



7th of September 2015 it was Duchenne Awareness Day. A Day everybody linked to Duchenne Muscular Dystrophy (Patients; Parents; Hospitals and reasearchers like ourselfs) tries to raise awareness for the disease boys are suffering from. Worldwide people released red (Biodegradable) balloons with wishes or notes attached to it.

Here in Leiden we also released balloons and attached the beautiful blogposts from several boys to the balloons. We hope people find the balloons and read the story of that specific boy and note life is not as easy as we might think sometimes…



Annemieke Aartsma-Rus has been nominated in the category “Knappe Koppen” (brainiacs) by the Dutch magazine VIVA. They list 400 inspiring women who achieved something remarkable last year: the VIVA-400 list. The public can then vote for their favoUrite, leading to winners in each category. The nominees are however asked to ask colleagues and fans to vote for them.


Annemieke Aartsma-Rus was a guest at the Dutch radio show “Een Vandaag” in the item “Wetenschap Op Woensdag”. The interview can be listened here (in Dutch). Annemieke also gave a talk on another Dutch radio show about Duchenne muscular dystrophy and blood transfusions.


FANTASTIC NEWS! The first drug for Duchenne patients will be on the market! Info about this drug can be found here.



When Annemieke Aartsma-Rus visited Germany for the Congress of the Scientific Council of the “Deutsche Gesellschaft für Muskelkranke” (German association of patients with muscle diseases) in Ulm in Germany, she was interviewed by Günter Scheuerbrandt. The whole interview is recorded and written down in this blog.



Dwi Kemaladewi participated in the “Dance your PhD” contest of the journal Science. The dance is titled “Antisense oligonucleotide mediated exon skipping for Duchenne muscular dystrophy” and has been selected as one of the four finalists in the category biology. Click here to see the dance!


The exon skip work has recieved a “Pearl Award” from the Netherlands Organization of Scientific Research (ZonMw), one of the founders of the exon skip work. The award was handed out to Gert-Jan van Ommen on Sept 23.



When Annemieke Aartsma-Rus visited the Nationwide Children’s Hospital Center for Gene Therapy she was interviewed by Kevin Flanigan about exon skipping approaches for neuromuscular disorders. The interview is available as a podcast and can be found here.


Omroep Rijnland (Dutch local television station) has made a movie about a Duchenne patient. The movie also features our exon skipping work. You can find the movie here (in Dutch).