Alicia Orth | Berg Lab & Genomic Medicine Research Group

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Department of Genetics

Advances in genetics are coming at a breathtaking pace, but our ability to utilize this information clinically remains a significant limitation of genomic medicine

To this end, I am leading one of the groups involved in a consortium effort called the “Clinical Genomics Resource (ClinGen)” that includes two NHGRI-funded U01 projects, an NHGRI-funded U41 project, and the NCBI’s ClinVar database. The overall goal of this consortium is to develop a publicly available knowledge-base of...

We often hear that every newborn will have his or her genome sequenced at birth in order to guide their health care and prevent disease

How can next-generation sequencing be most effectively employed to enhance current newborn screening? What types of genes and conditions should be sought in a healthy newborn? How should parents decide what information they would want to know or not to know? Are there certain types of information that should be...

The integration of genomics with the medical care of has been widely touted as the natural extension of the Human Genome Project

Should we start carrying out genomic “screening” in healthy adults? What types of genes and conditions would provide the most valuable information? What kinds of genomic information should we avoid? What is the right population in which to carry out screening? In what setting should the screening take place? These...

Molecular diagnosis is a key element in the care of patients with rare genetic disorders

How can we best utilize genome-scale sequencing as a clinical diagnostic test? What are the most effective ways of sifting through many thousands of genetic variants to find the few variants that are clinically relevant for the patient? How should we manage the inevitable “incidental findings” that will be present...

Genome-scale sequencing now allows us to generate massive amounts of genetic variant data that facilitates the discovery of new disease-associated genes

Yet for many disorders we still only understand a fraction of the genes that (when mutated) cause disease. Our lab studies individuals and families with likely hereditary cancer susceptibility in order to discover new candidate genes for monogenic forms of hereditary breast cancer, polyposis, and other cancer types.