We are pleased to announce the Cold Spring Harbor Asia conference on Genomics of Rare Diseases which will be held in Suzhou, China, located approximately 60 miles west of Shanghai. The conference will begin at 7:00pm on the evening of Monday September 20, and will conclude in the evening after banquet on Thursday, and depart on Friday, September 24, 2027.

The conference will include seven oral sessions and one poster session covering the latest findings across many topics in Genomics of Rare Diseases. Many talks will be selected from the openly submitted abstracts on the basis of scientific merit and relevance. Social events throughout the conference provide ample opportunity for informal interactions.

Major Topics:

1. Rare disease diagnosis, phenotyping, and genome interpretation

2. Multiomics, disease models, and mechanisms

3. Computational genomics and AI approaches

4. Population genomics and large-scale cohort studies

5. Genetic medicine and precision therapeutics

6. Emerging directions in rare disease 

Keynote Speaker:

Evan Eichler, University of Washington

Invited Speakers:

Stéphanie Baulac, Institut du Cerveau

Steven Brenner, University of California, Berkeley 

Sandra Cooper, University of Sydney

Beverly Davidson, Children's Hospital of Philadelphia

Elfride De Baere, Universiteit Gent

Christel Depienne, University Hospital Essen

Alexander Hoischen, Radboud University Medical Center

Jinkuk Kim, Korea Advanced Institute of Science and Technology

Stephen Montgomery, Stanford University

Shahida Moosa, Stellenbosch University 

Bekim Sadikovic, Western University 

Ning Shen, Zhejiang University

Vorasuk Shotelersuk, Chulalongkorn University

Zornitza Stark, Murdoch Children's Research Institute

Ahmad Abou Tayoun, Dubai Health

Wensheng Wei, Peking University

Yi Xing, Children's Hospital of Philadelphia

Kai Ye, Xi'an Jiaotong University

And more...

We encourage abstracts to contain new and unpublished materials. The abstracts must be submitted electronically by the abstract deadline. Selection of material for oral and poster presentation will be made by the organizers. Status (fellow's talk/poster) of abstracts will be posted on our web site as soon as decisions have been made by the organizers. 

Fellowship: 
We are eager to have as many young people as possible attend since they are likely to benefit most from this meeting. A certain number of presentations by graduate students and postdocs in this conference will be selected as fellowship (USD $100-$500) awards. For more details, please visit  Stipends

We look forward to seeing you at Suzhou in September 2027.