Researcher profile: Emma Haapaniemi
Dr Emma Haapaniemi joined NCMM as a group leader in January 2019. Her research programme at NCMM will focus on rare immune diseases caused by genetics and rare acquired autoimmune diseases.
Can you tell me a bit more about your research?
My particular interest is in rare immune diseases, for example, diseases caused by genetics and rare acquired autoimmune diseases. In a nutshell, I am trying to find better ways of determining the genetic cause of these diseases, and then finding the right treatment either by finding a better biological therapy or by correcting a genetic mutation.
My PhD focused on finding a genetic diagnosis for a group of patients with a suspected monogenic immune disease, which involved working extensively with exome and genome sequencing to help make a diagnosis. Now I have my own research group I want to work more with finding the right therapies to treat these genetic diagnoses. There are a lot of biological drugs available and I think these could be more efficiently targeted. We could, for example, use different RNA-sequencing methods –such as single-cell sequencing and RNA panels- to profile patients immunologically, and use this information to better target these existing therapies.
I also think many of the genetic immune diseases could be managed quite well if we could correct the mutation in either the patient’s blood stem cells or T cells. Another part of my research will involve developing tools that can do this safely and efficiently.
What really motivates you about your research?
For me, it’s being able to identify what is making a patient sick and find a way to treat them. I first became interested in the genetics of immune diseases when carried out my first sequencing on a patient during my medical training. This patient was suffering from multiple autoimmune diseases and I saw the potential to use exome sequencing, which was very new at the time, to try to identify what exactly was causing her to be so unwell. There were a lot of issues to overcome- it took around two years to get the relevant permissions and to collect the sequencing data - but I found a specific mutation that had never been described before (see publications at: https://www.nature.com/articles/ng.3040 and https://www.ncbi.nlm.nih.gov/pubmed/25349174 ). Unfortunately, it was too late for this particular patient, however, there is now a therapy available to treat this disease. Seeing how new technologies can really impact patient care was very powerful for me, and led me down this particular path of research.
How do you plan to build up your group?
Right now I have one PhD student and a Masters student based in Helsinki who I hope will also come to NCMM to do her PhD. We also have a more experienced PhD candidate who joined us from the Beijing Genomics Institute at the beginning of April. I am also currently on the look-out for a senior scientist to help further support the group. I definitely see the group growing quite a lot over time, as work that involves gene editing and patients requires quite a few people.
What would you like to achieve in your first five years at NCMM?
Ideally, I’d like to build a gene-editing system that can safely and efficiently edit blood stem cells and T cells. We hope to be able to take any patient mutation and fix it with CRISPR, and thus ideally have a platform that can treat a wide spectrum of genetic diseases. It would also be really exciting if we were able to enter clinical trials with the modified CRISPR system, but we will have to see how everything goes.
You come from a similar background to NCMM Director, Prof. Janna Saarela. Do you see you working together?
Yes – Janna and I have some common research interests and have worked together in the past. I think she can help me a lot in terms of my work with rare immune disease genetics. She is an expert in this field so it will be great to have her support here. I also hope this will allow me to then focus more attention on therapy-based research.
What made you decide to swap Sweden for Norway?
I really liked Stockholm and Karolinska Institute, and it was a tricky decision. However, NCMM offered me a really great start-up package which meant I could properly establish my own group and get going with my research. I also think Norway is similar to my home (Finland) in many ways. People are very down to earth here and the lifestyle is fantastic.