Recently, the Department of Endocrinology, PUMCH, had the honor of having Professor Squib A. Lakhana and Professor Mustafa K. Khokha from Yale University visiting for academic exchanges. Both professors are world-renowned experts on pediatric hereditary diseases. They are particularly experienced in the diagnosis and research of monogenic disorders and have published in many world class journals including Nature and Developmental Cell. In their visit they shared their experiences by discussions around genetic diagnosis, functional verification and animal model, which are combined with clinical cases.
Congenital diseases, especially monogenic disorders, are commonly seen in a department of endocrinology, which pose great challenge to diagnosis and treatment. With the wide application of sequencing in recent years, genetic test has become a common method in clinical work. Final diagnosis, however, is still hard for many diseases as some test results are difficult to interpret and sometimes the causation between genetic abnormalities and diseases is hard to establish. Then comes functional verification as the final means in diagnosis. But the research methods on genetic functions are complicated, which may vary significantly on different genes. Particularly, the functions of part of disease genes are still not fully known today, and final conclusions cannot be expected in short term. The two professors, from their clinical cases, discussed the approach and methods of functional verification from molecular, cell and animal levels, thus helping with clinical thinking and information. As they mentioned in their speech, “from bedside to bench and back again”, the translation between clinical work and basic research should be the central direction of future medicine. All basic research should start from clinical work, with the final goal set on benefiting patients.