KIND BETER/LUMC RESEARCH UPDATES
By Esther Kloosterman FOXP1 Dutch Ambassador
Hello everyone,
It's been a while since you heard from us (Kind Beter Foundation). But so much has happened recently that it's time for an update. It's a long story and maybe there are things in it that you already know, but there are also a number of new parents in our group, so better hear a few times than not at all.. ;-)
First let's start with a little bit of background for the new parents among us. My name is Esther (Kloosterman) and together with Andre (de Koning) I have a 10 year old son, Fenn, with FoxP1 syndrome.
In 2017, we set up our Kind Beter Foundation www.kindbeter.nl to raise funds to enable the LUMC to conduct research on a genetic level into this rare syndrome. In 2021 we had collected enough money to start the 1st year of the 2-year study and now the two years have also been (almost fully) funded and started.
Meanwhile, I (Esther) and Annemiek (Linn), mother of daughter Pippa with FoxP1 syndrome, are involved in the international FoxP1 association as ambassadors for Dutch-speaking parents. In this way we are even more involved and we try to keep up to date with new developments and share them with you. We do this in addition to caring for our children, our families and jobs, so sometimes we really have to look for some space in our busy calendars. ;-) But know that we are always there for you and available for questions.
A lot of things are happening at the same time around our children's syndrome. Different people are working hard in different ways to put FoxP1 in the spotlight and to do more research.
Below is a summary of the most important things.
Human genetics LUMC (research)
In 2021, research in the laboratory into FoxP1 at the LUMC was started by Prof. Dr. Willeke van Roon and Dr. Elena Daoutsali. In broad terms, this means that they will use the “brain on a chip” technique to examine in which brain cells with an abnormality (mutation or deletion) on the FoxP1 gene deviate from brain cells with a normal FoxP1 gene.
In the past year they have been busy “creating" FoxP1 brain cells on 2 levels.
Based on normal/healthy cells, cells have been created that have FoxP1 proteins that contain an error and cells that do not make any FoxP1 proteins at all. These cells are compared with each other at different moments in their growth. Not only by viewing a 2D cross-section, but also by means of a new technique that allows them to look through a cell at a 3D level. “Our” researcher Elene Daoutsali thus managed to get a lot of interest in our research at a conference on “brain on a chip”.
Complicated stuff to understand, but very interesting to be involved with. We want to ask the LUMC team sometime in the spring to give a (digital) presentation to anyone who is interested.
We have no idea at this point what or if this will benefit our children, but the fact that we have brought FoxP1 to the attention of the medical world and science is already very valuable.
Which brings us to the next point:
Clinical Genetics LUMC (patient care and research)
Shortly after our research at the department of human genetics in the LUMC started, a clinical geneticist in training, Dr. Saskia Koene, who wants to specialize in the FoxP1 syndrome, joined our LUMC team.
Besides the fact that she has started a research into the symptoms of FoxP1, which most of you have already participated in, she is busy setting up Expertisepoli for FoxP1! Various specialists (paediatricians, neuropsychologists, psychiatrists, clinical geneticists, etc.) are involved in this outpatient clinic, whose aim is to collect all the knowledge about patients with this syndrome, in order to be able to answer their parents' request for help as well as possible. The more knowledge is collected and centralized, the more targeted treatments can be deployed. That's really great news to all of us! As soon as this outpatient clinic can be used more widely and you can register for it, we will of course let you know.
If you have not yet completed Dr. Koene's survey, you can still do so. Register by sending an email to foxp1@lumc.nl and you will receive an email with information and registration specifications for the study.
Dr. Koene is also in contact with the researcher of the Promise study (Myrthe Kamphof, promoter Hannah Swaab), which aims to better map the neuropsychological profile of FOXP1 syndrome in children (3-18 years). It is also possible after viewing strengths and weaknesses to initiate individual treatment in the context of the study. Measurements can be made in Leiden, at home or at school; treatment can be done in Leiden or online. This study will start next year, possibly as early as the second quarter. Parents who want to be on the list for this study can register as interested parties by sending an email to: foxp1@lumc.nl
There are other grant applications for further in-depth parts of the above studies, digital media research and making an information booklet, but that is all still in progress. As soon as we know more about this, we will let you know.
For more information, please click on the link below.
