The collective sum of rare diseases has a massive world-wide impact on child health and family well-being. We have demonstrated that many rare diseases have a basis in our DNA. Hence, discovering and studying these novel genes improves not only our understanding of disease but also our understanding of our own biology.
Furthermore, gene discovery and advances in biology through the study of rare diseases has the potential to lead to new scientific discoveries and novel therapies for patients with broader implications beyond the individual rare diseases.
We will outline examples of how rare disease gene discovery has transformed our basic understanding of biology and can lead to innovative approaches to improve care for patients.
The language of the event will be English.
Registration and Payment
Purchase in advance: RMB 20 for students; RMB 60 for Yale alumni; RMB 80 for others.
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6:30 PM - 7:00 PM
7:00 PM - 8:30 PM
Talk and Q&A
Director of Yale Medicine Pediatric Genomics Discovery Program & Associate Professor, Pediatrics & Genetics, Yale School of Medicine
Leveraging next generation genomics, Dr. Khokha has built the Pediatric Genomics Discovery Program, which enrolls patients with birth defects and other critical illness, analyzes their genomics, performs functional testing on candidate genes, and returns both clinical and research results to medical providers as well as to patients and family in order to inform and impact their clinical care.
Clinical Director of Yale Medicine Pediatric Genomics Discovery Program & Assistant Professor, Pediatrics, Yale School of Medicine
Dr. Lakhani recently became the Clinical Director of the Pediatric Genomics Discovery Program, where he directs the enrollment of patients for genomics studies, their genomic analysis, and subsequent functional studies. In addition, he coordinates all aspects of returning research results to patients and referring physicians derived from the PGDP program.