More boys than girls suffer from the rare SETD1B syndrome


There are much more boys with this condition than there are girls, and behavioral problems in particular are more common in boys

There is one thing that catches the attention of children with the rare SETD1B syndrome. Boys get sick more often than girls, and boys are most affected by it. Scientist Christina Lanco hopes to discover the source of this difference. Brain cells are my favorite cells.

Boys and girls with the rare SETD1B syndrome have many things in common: they have developmental delays, problems speaking and learning, behavioral problems, and sometimes epilepsy, and autism. All of them have a defect in the SETD1B gene. This is the cause of the disease. But there are differences, too. There are much more boys with this condition than there are girls, and behavioral problems in particular are more common in boys.

Christina Lanko, an Erasmus MC researcher, hopes to conduct new research to determine the reason for this difference between the sexes. That’s why you dive into the lab. Lanko takes skin cells from male and female patients and makes stem cells from them. Through what she calls “some magic tricks,” you convert stem cells into different types of brain cells. Lanko is a postdoctoral researcher in the Stefan Barakat group in the Department of Clinical Genetics.

Lanko hopes to find differences between the brain cells of men and women. For example, we look at the genes that are expressed, because we know that the SETD1B protein has an effect on this. We also look at how well neurons transmit signals to each other. Do they still work well as a network?

Lanko will also make small brains assembled from patients’ cells, the so-called “Patients in a Dish,” a first in its field. We collect stem cells from different patients and let them grow into an organic brain. We use this to mimic the early stages of brain development. Each cell has its own role in the organelles in the brain and can be traced back to a single patient due to the unique genetic signature. That way, Lanko hopes to find out what’s going wrong with any patient.

Favorite cells
Lanko can’t wait to start this fall. Brain cells are my favorite cells. Just because of their beauty, it’s great to work with them. Moreover, it is the cells that make you human. This is what makes this project great: I know that behind every cell there is a person.

About SETD1B Syndrome

  • Patients with SETD1B syndrome have developmental delays, often with behavioral problems and epilepsy.
  • This condition is caused by a defect in a gene called SETD1B.
  • The syndrome is rare. An international study from 2021, led by Erasmus MC, describes 36 patients worldwide. The exact number of patients is unknown.
  • The syndrome is more common in boys than in girls, and boys often have more symptoms. How this happens is not yet known.
  • There is no treatment that can cure SETD1B syndrome.

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Quest: Why are more boys than girls with a rare syndrome?
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