Scientists at Baylor College of Medicine, Baylor Genetics, the University of Texas Health Science Center at Houston and Texas Children’s Hospital are combining descriptions of patients’ clinical features with their complex genetic information in a unified analysis to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition.
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“Traditionally, physicians have spoken of a unifying diagnosis, meaning that genetic conditions are due to mutations in only one gene,” said co-first author Dr. Tamar Harel, a geneticist at Hadassah Medical Center in Israel. “Yet, we see here that two or more genes can be involved in a disease and produce a complex clinical picture. For many in the field, this is a revolutionary idea.”
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“This work is especially relevant in the era of precision medicine,” said senior co-author Dr. Yaping Yang, senior director of Baylor Genetics and associate professor of molecular and human genetics at Baylor. “I am very happy that in addition to providing molecular diagnoses to individual patients, our data is contributing to a better understanding of genetic disorders and genomic medicine.”
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