Xiaona Lu

Xiaona Lu, MD, PhD, is an Associate Research Scientist in the Department of Genetics at Yale School of Medicine. She holds dual expertise in clinical medicine and genetic research, with a focus on neurodevelopmental disorders and craniofacial abnormalities. Her work integrates molecular genetics, gene editing technologies, and clinical applications.

Dr. Lu earned her MD from Central South University (2013) and PhD from Tsinghua University/Peking Union Medical College (2019). She specializes in investigating genetic mechanisms underlying conditions like Angelman syndrome, SHANK-associated autism, and craniosynostosis syndromes (e.g., Apert, Crouzon). Her research employs advanced techniques such as CRISPR-based genome editing, long-read sequencing, and 3D craniofacial imaging.

Her key research interests include:

• Gene therapy development for neurogenetic disorders
• Molecular mechanisms of autism-associated genes
• Craniofacial morphogenesis and surgical planning
• Stem cell-based therapies

Notable achievements include:

• 2024 Young Investigator Award (FAST)
• 1st Plenary Speaker at ASHG 2023
• Development of novel mouse models for Angelman syndrome therapy

Dr. Lu collaborates with institutions like the Jiang Lab and has presented at major conferences including the American Society of Human Genetics. Her work bridges basic science and clinical translation to improve treatments for genetic and craniofacial disorders.