News

June 17, 2024 / News, Research paper

New gene for Parkinson’s disease discovered

In a new study published in Nature Genetics, Paul Hop and colleagues describe the discovery of a gene responsible for a heritable form of Parkinson’s disease. The study was an international collaboration coordinated by the Kenna lab and multiple partners in the US and Italy. The research team used the RVAT software package developed by the Kenna lab and specialized computational infrastructure to analyze DNA from over 2,100 patients with familial Parkinson’s disease and 70,000 volunteers. The partnership with project MinE, an independent initiative to unravel the genetic basis of amyotrophic lateral sclerosis made the scale of the analyses possible.

Studying Rab32 in Parkinson's Disease

“We’re very excited about this finding. This was the largest genetic analysis of familial Parkinson’s disease to date, and we believe that the discovery of the RAB32 mutation and it’s effect on LRRK2 open up important new research lines” – Paul Hop

Paul Hop is a PhD student at the UMC Utrecht Brain Center under the supervision of Kevin Kenna and Jan Veldink. Paul is also a lead developer for the RVAT analysis package. His analysis revealed a mutation in the RAB32 gene that significantly increased the risk of Parkinson’s disease. Subsequent investigations of this mutation in laboratory grown cell models revealed that the mutation led to abnormal increases in the activity of a key Parkinson’s related protein called LRRK2. Such abnormal increases in LRRK2 activity are  important in Parkinson’s disease. Furthermore, research community is already exploring this increase as a potential target for therapeutic intervention. Until now, only a handful of genes have been definitively implicated in heritable forms of Parkinson’s disease. The discovery of the RAB32 mutation and its effect on the LRRK2 protein are therefore an important step forward.

For more information about the study please see:

https://www.parkinson-vereniging.nl/archief/bericht/2024/06/10/nieuw-gen-voor-de-ziekte-van-parkinson-ontdekt

https://www.parkinsons.ie/new-gene-parkinsons-disease/

November 17, 2023 / News, Public outreach

The World Premature Day

On the 17th of November, it is the World Premature Day that aims to increase awareness and understanding for the impact that a premature birth has on the baby and the newborn’s loved ones. In the Netherlands, there are many organisations that help premature babies and parents through their difficult start, including Care4Neo.

“The time has come, you are pregnant. A whole new chapter of your life is about to begin and it is an unknown territory. You make sure to take your vitamins, get your check-ups and hear your babies heartbeat time and time again. You get excited to meet your baby and with time you feel more and more at ease. And then the time comes, labor. However, for 1 in 10 births, this comes earlier than 37 weeks. Completely unexpected, you are parents to a premature baby and nothing can really prepare you for this. The earlier the baby comes, the more complications are expected. It is a period where you feel all the emotions, happiness, sadness and mainly a lot of insecurity.“ a mother

Developmental research, as done in our department and at the UMC Utrecht Brain Center, also contributes to the care and understanding of what one can expect when having a premature baby. It is a very fragile time when babies are born and information is so important. Information for parents and health care professionals, but also everybody else. So, take a moment to be informed about the impact and work being done to help the care of premature babies. Feel free to share a post, wear something purple (as purple is the color for premature babies) or just take a moment to show your support.

October 31, 2023 / Appointment, News

Elly Hol appointed vice dean of research

Elly Hol will start as vice dean of research at UMC Utrecht on January 1, 2024! Elly has been working at the UMC Utrecht for 10 years. She is professor of glial biology of brain diseases and is a member of the Academia Europaea and the KNAW. Our new vice dean is also the education manager of the Brain division and has led the Translational Neuroscience department since 2020. Elly strongly believes in the integration of research with education and care. “Exchange between these disciplines offers opportunities for talent development and has a major and positive impact on both students and patients,” explains the new vice dean. “In my opinion, these are the essential preconditions for attracting and retaining (inter)national research talent. And that is this time of great change is more important than ever.”. She also emphasises the importance of a stimulating research environment within the UMC Utrecht, in which sufficient attention and space are provided for the full spectrum of research, from fundamental to clinical. In her view, excellent facilities and support are crucial.
“We are very happy with the arrival of Elly. First of all, because Elly is a great and very experienced researcher, with a warm heart for education. She has proven to be a to be a good connecting team player. Secondly, because for the first time we now have a vice dean for research, while the other faculties in Utrecht have had this for much longer. This is important in light of the strong increase in research collaborations between the faculties, on campus, within the alliance with Eindhoven and Wageningen and internationally. We wish her every success in this new role.” Arno Hoes, dean and vice-chairman of the Board of Directors
Our new vice dean will continue her work as a research group leader. Her lab focuses on glia biology in brain diseases and is a hub for several in-house, national and international collaborations. In addition, she will continue as the co-head of our Translational Neuroscience department. This exciting news make us very proud; congratulations Elly! 🎊🎊🎊
 
See this post for additional information.
 
October 25, 2023 / News, Public outreach

Pasterkamp explains brain atlases on NRC

Single cell atlases map brain cell types at high precision. A platoon of 21 recent papers published at the journal Science journals, including one by our new group leader Kimberly Siletti, sheds light in brain’s diversity. Prof. Jeroen Pasterkamp has given an interview to NRC (In Dutch) titled “Een atlas van een van de grootste mysteries die we kennen: het menselijk brein” to discuss the developments in the field.

Efforts led by the Brain Initiative Cell Census Network will greatly enhance the field of Neuroscience. We, researchers at the Translational Neuroscience department and UMC Utrecht Brain Center, will continue to invest on this technology and actively contribute to the process.

May 23, 2023 / News, Public outreach

Fundraising ALS researchers will climb the Mont Ventoux

Tour de ALS

Fundraising is fun! Two researchers of the Department of Translational Neuroscience will climb the Mont Ventoux in France during the Tour du ALS, a yearly event to raise funds for ALS research. Under the slogan “Let’s kick ALS out of the world together”, hundreds of cyclists, runners and hikers will, together with ALS-patients, conquer the mountain on the 8th of June this year.

“Besides working on a daily basis in the lab to help discover the fundamental pathology behind ALS, this event is a great opportunity to contribute in a different way to the fight against ALS.” Rianne de Jongh

 

Rianne and Astrid will join the larger UMC Utrecht Brain Center team of fourteen researchers and staff. Next to raising funds themselves, Rianne and Astrid will also talk to patients that will support the event on the spot. Both PhD students are involved in projects that aim to elucidate the fundamental mechanisms of ALS, as members of the Pasterkamp lab.

 

“I see how the daily research efforts for ALS will inevitably result in effective medicine in the long term, therefore it is important that events like this ensure continued funding for research into this devastating disease.” Astrid van der Geest

If you would like to support the ALS center team of the UMC Utrecht you can do so here until 30th of June 2023. We are proud of our members’ ongoing fundraising efforts to support research in a number of diseases. Any amount is welcome in this fight against ALS, a research priority at the UMC Utrecht Brain Center

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