Donation of skin for Townes-Brocks Syndrome research

What is Townes-Brocks Syndrome?

Townes-Brocks Syndrome (TBS) is a rare disease caused by mutations in the gene SALL1. It is characterized by symptoms that include imperforate anus and dysplastic ears, and is frequently associated with thumb malformations and hearing impairment. Also possible, but less frequent, are kidney problems, heart disease, foot and urogenital malformations.

Who are we?

We are a group of scientists with experience in studying SALL1 and related genes in model systems and human cells. We work at CIC bioGUNE, a private non-profit research center in Bilbao, Spain.  Rosa Barrio (PhD), principal investigator at CIC bioGUNE, together with James D. Sutherland (PhD) and Laura Bozal (PhD student), are conducting a research study to further understand the cellular and molecular mechanisms that underlie Townes-Brocks Syndrome (TBS). In addition, we are endorsed by and collaborate with Dr. Juergen Kohlhase (Freiburg, Germany), a global expert on TBS.  For further information, check our official website:

Where are we?

We work at CIC bioGUNE, a private non-profit research center in Bilbao, Spain. The web page of the research center is:

Our address is: Functional Genomics Unit, Lab 1, Bizkaia Technology Park, Building 801A 48160 Derio, Bizkaia, Spain.

Our laboratory webpage is:

Who is funding us?

Our group has been working on SALL1 gene at CIC bioGUNE since 2005. Our research is supported through public regional, national and European funding.  If we can enroll more TBS individuals in our study, then the resulting research will have greater impact and we may continue to receive funding to investigate TBS. Our funders cover research expenses only and will not pay for any medical treatment or doctor honoraria. However, we can pay the shipment of donated samples to our laboratory.

What is our mission?

Mutations in the gene SALL1 cause Townes-Brocks Syndrome, and we aim to understand why that happens, at a molecular and cellular level. Currently we are not linked to any commercial interest, but we believe that a better understanding of how TBS occurs can lead to new ideas about future treatments.  So far, we analyzed skin cells from two TBS individuals and had interesting results. We published our results in the scientific journal The American Journal of Human Genetics that you can access here:

What is our project?

We are analyzing the changes produced in cells when the SALL1 gene is not working. We are looking for changes in cellular structures and components (proteins). We realized that SALL1 mutations might be affecting the function of the primary cilia, a cellular organelle necessary during development. We aim to prove that by using cells derived from the skin donated by Townes-Brocks individuals.

How long we have been working in this project?

Our group has a long experience in studying the gene SALL1 and related genes in model systems and human cells since 1996. However, this project using TBS-derived cells is fairly new, being our fisrt publication on TBS in 2018 (you can access the publication here:  If we can find new more TBS individuals to enroll in the study, the research will be more convincing, progress better, and hopefully receive future funding.

Why do we need samples from Townes-Brocks individuals?

We would like to understand why SALL1 mutations cause problems during development. For that, we need to study the differences between the cells from Townes-Brocks individuals and cells from non-affected persons. We have seen that mutations in the gene SALL1 might affect the function of primary cilia, cellular organelles necessary during development. At the moment, we have cells from two TBS donors, but we need to prove that this happens in other Townes-Brocks cells and that this is not just an isolated case. This is why we are asking for your help.

How can you participate in our project?

Your participation is crucial to our mission! If you are 18 or older, you or your child/ren have been diagnosed with Townes-Brocks Syndrome and you/they are planning to undergo surgery in the future (to correct thumb/finger malformations, for example), you are invited to participate in this research study by donating samples. Through your participation, we hope to better characterize this disease. 

What are the requirements to participate?

- To be 18 or older. In case of a child (or children) with Townes-Brocks Syndrome, the parents should be 18 or older.

- To have a Townes-Brocks Syndrome diagnosis by a physician. 

- To know the nature of your lesion in the SALL1 gene. This is normally achieved through consultation with your physician and an expert geneticist.

- To undergo surgery in the future, so the surgeon/physician can save samples and provide them to us. 

What do we need from you?

Due to the nature of our research, we are interested in dermal fibroblasts, a type of cells derived from skin. When a patient has surgery (to correct thumb/finger malformations, for example), the surgeon/physician can provide samples to us. 

How doctors collect the samples?

We will be grateful for donations of skin derived from corrective surgery. If you or your child/ren are planning on corrective surgery, you should point out our study to your doctor and express your desire to donate a sample to our laboratory. You can give the informed consent to your physician (see below, Annex I). Afterwards, your physician should then contact us in order to coordinate the shipment.

Who is going to cover the costs?

Skin samples can be collected when a individual undergoes corrective surgery, and then sent to us. This requires organization in advance between the individual, the doctor/hospital, and the Barrio Lab.  We will be covering shipping costs to send the samples from the doctor/hospital to our laboratory. However, we cannot cover any costs related to the medical procedure, nor pay any honoraria to the doctors.

Are my data/sample going to be confidential/protected?

Your privacy is very important to us. All participant names, medical records, samples, and experimental data will be coded to remain confidential. Participants can choose to withdraw from the study at any time and for any reason. 

I want to donate my cells, how should I proceed?

1. Download the informed consent HERE

1. Read carefully the informed consent.

2. In case you are planning to undergo surgery, contact your physician and tell her/him about our project and your decision of donating cells. Please, refer to her/him to our website and take the informed consent with you.

3. Your physician must contact us before taking the sample in order to coordinate the shipping of the sample.

Thank you very much for your collaboration!

We would be happy to answer any question you may have.

rbarrio AT

jsutherland AT

lbozal AT