MRC Cognition and Brain Sciences UnitUntil recently, finding the genetic cause of neurodevelopmental disorders was difficult, expensive and time-consuming. The majority of individuals did not receive a diagnosis, and the cause of their lifelong differences remained a mystery.
With technological advances and major health service investment, genetic diagnosis is becoming the norm. However, finding a genetic diagnosis leads to new questions, which motivate the research work of our group:
- What are the neurodevelopmental differences associated with each rare genetic diagnosis?
- What can we learn about brain development and cognition by understanding rare genetic disorders?
- How can we use this information to improve the mental health of people with rare genetic disorders and their families?
Some of our projects focus on specific rare genetic disorders, or groups with similar genetic causes. For example, we have published research about:
- SYT1-associated neurodevelopmental disorder
- STXBP1-associated neurodevelopmental disorder
- DDX3X-associated neurodevelopmental disorder
- Synaptic Vesicle Cycling disorders
- Broader groups of synaptic and chromatin-related disorders
Other projects focus on questions which are relevant to a broad range of disorders. For example:
- Parents’ mental health in the context of rare genetic disorders
- Understanding early development of emotional regulation in rare genetic disorders
- Remote dynamic assessment of cognitive abilities (FarmApp)
- Learning from the experiences of patients and families during the COVID pandemic
Information about current research projects:
Information for families:
Information about SYT1-associated neurodevelopmental disorder
Current group members (incl publications lists):
- Kate Baker (PLT)
- Andrea Santangelo (Post-doctoral research associate)
- Zhaotian Chi (PhD student)
- Jessica Martin (PhD student)
- Josefine Eck (Research Assistant, MPhil student 2021-2023)
- Tess Smith (Post-doctoral research associate)
- Eema Al-Jawahiri (Post-doctoral research associate)
- Rebeca Ianov-Vitanov (PhD student)
- Carly Hood (PhD student)
- Sam Norwitz (PhD student)
Previous group members:
- Diandra Brkic´ (Post-doctoral research associate)
- Anna Kolesnik-Taylor (Post-doctoral research associate)
- Elise Ng-Cordell (Research Assistant)
- Abinayah John (MPhil in Genomic Medicine, 2019-20)
- Sokahna Kong (MPhil in Genomic Medicine, 2020-21)
- Emogene Shaw (MPhil in Genomic Medicine, 2020-21)
- Alice Smail (MPhil in Genomic Medicine, 2022-23)
