Researcher Profile: Angela Morgan, Ph.D.

Angela Morgan, PhD, is a National Health and Medical Research Council Elizabeth Blackburn Fellow and leads the Speech and Language group at the Murdoch Children’s Research Institute in Melbourne, Australia. Morgan is also a Dame Kate Campbell Professorial Fellow at the University of Melbourne.

She has over 25 years of experience as a speech pathologist and speech science researcher. Her career has focused on understanding speech disorders in children, including causation, prognosis, and therapies.

Most recently, Morgan’s team identified multiple genes associated with severe speech disorders. This work has directly translated into international guidelines for the clinical management of children with rare speech genetic conditions. For example, her team has shown the importance of SETBP1 in typical speech and language development. SETBP1-haploinsufficency disorder (SETBP1-HD) leads to a striking linguistic phenotype. SETBP1-HD is one of the conditions studied by the Simons Searchlight program.

We interviewed Angela about her latest research projects and her collaboration with Simons Searchlight.

How did you first start collaborating with Simons Searchlight? 

I have been collaborating with Simons Foundation Autism Research Initiative (SFARI) for almost a decade! My first collaboration involved attending the 2014 Family & Research Conference in Washington on 16p11.2 deletion. My work was supported by an early grant with SFARI on this condition. I have been fortunate to collaborate with the Foundation ever since, including now, through Simons Searchlight.

How have you and your team used information collected from Simons Searchlight families in your projects?

We examine the speech and language abilities of children with rare genetic conditions. We work directly with families, including Simons Searchlight families, to gather information about communication and its effect. The ultimate aim of our work is to develop more targeted speech therapies that improve the quality of life and well-being of children with rare genetic conditions.

What type of data did your team use, and was it associated with a specific genetic change?

We are working with Simons Searchlight to better study speech and language abilities in children with SETBP1-haploinsufficiency disorder (SETBP1-HD). We included data from the Vineland Adaptive Behavior Scales, which measure daily life functioning and overall language ability.

Have you requested any biospecimens from the registry’s collection to use in your research and how have these samples been utilized?

Not at this time, but this is an incredibly valuable resource for future work.

From a researcher’s perspective, how important is it for families that have rare genetic disorders to become involved in a registry study?

The data included by families in a registry study is absolutely critical for us to gain new insights into the conditions we are studying. This information helps reveal new and important connections between particular symptoms and behaviors, which generates more refined research hypotheses. Collection of these data is the only way we will make progress in understanding and better treating the conditions of interest.

What are your future plans for collaborating with Simons Searchlight or using Simons Searchlight data?

We are looking forward to continuing our collaboration with Simons Searchlight over the next three years because our current work together involves a longitudinal study that will run over that time period.

What kind of research did you do at Simons Searchlight’s 2022 Baltimore Conference (HIVEP2, MED13L, SCN2A, CSNK2A1)? 

The Baltimore conference was a wonderful way to meet directly with families and collect specific speech data that can only be done through face-to-face interaction.

What was the experience like for you? Do you have any highlights that you would like to share? 

It is always the most rewarding and enjoyable part of the job to work directly with children and families. One of the many highlights was seeing the pure joy on the children’s faces as they had the freedom to run around with their peers at the hotel. We also received a gorgeous picture from one of our families that has made it all the way back to Australia and now sits in pride of place on our office wall!

How has this experience impacted your research moving forward? 

This experience, being able to meet and work with so many families with SETBP1-HD in one meeting, has further informed our understanding of the condition, and it has helped us to form even stronger research questions that will lead to better-targeted speech therapies for children with SETBP1-HD.