Funded Research Projects


Investigating microvasculopathy in SMA patients and their response to nusinersen, onasemnogene abeparvovec and risdiplam.

Principal investigator(s):
Dr. Haiyan Zhou
University College London, UK
Grant Type:
Operating Grant
Start Year:
2 years
Call number:
Not yet started

Dr. Haiyan Zhou

Dr. Haiyan Zhou is an Associate Professor at University College London, deputy lead of the Novel Therapy Theme in the NIHR Biomedical Research Centre at UCL Great Ormond Street Hospital and Institute of Child Health and director of the MSc Personalised Medicine and Novel Therapies Programme at UCL. Dr Zhou is the 2021 Harrington UK Rare Disease Scholar. She holds a medical degree in clinical medicine and PhD award from Peking Union Medical College.

Dr Zhou’s Lab focuses on developing RNA oligonucleotide therapies for rare childhood disorders, by using the state-of-the-art nucleic acid technology, and to translate these experimental therapies to clinical applications. The Zhou lab has a long-standing interest in translational research in SMA, on novel therapies and biomarker development. Dr Haiyan Zhou works closely with Professor Francesco Muntoni and the Dubowitz Neuromuscular Centre at the Great Ormond Street Institute of Child Health. 


In Focus


Vascular health plays an important role in keeping the normal function of all organs in our body. In children affected by SMA, Dr Zhou and colleagues have found that the densities of capillaries are dramatically reduced in some organs examined, such as the retina (eye), skeletal muscle and spinal cord. Similar changes are also observed in SMA mice. Furthermore, the team has discovered circulating biomarkers of endothelial injury in both patients and mice.

Dr Zhou and her team will seek to understand if the approved drugs for the treatment of SMA also improve vascular health.

How will Dr Zhou do this?

Dr. Zhou and her team plan to measure some biomarkers (cells and molecules) in blood samples from children who are receiving a new drug treatment (nusinersen, onasemnogene abeparvovec or rispiplam), to see if these drugs can also improve vascular health. In addition to the experiments planned in children, they will study a compound similar to risdiplam, in SMA mice. They will treat the mice before birth to see if earlier treatment may provide more therapeutic benefit, and further improve vascular health.

Why is it interesting to patients?

This study will provide important information to further improve current treatments for SMA.