Many diseases and conditions have a genetic basis. The Department of Clinical Genomics-Research at Mayo Clinic is conducting research to better understand the role of genetics in a variety of cancers and other diseases, including breast cancer, ovarian cancer, colon cancer, congenital disorders of glycosylation, melanoma, lysosomal storage disease, neurofibromatosis, and rare or suspected genetic disorders.

Research conducted by the Department of Clinical Genomics-Research may eventually lead to better methods of screening, prevention and treatment for a wide array of genetic disorders.

Our research focus areas include:

Breast cancer and ovarian cancer

The Inherited Breast Cancer Study includes investigation of segregation analysis, sequence conservation and functional studies to attempt to reclassify BRCA1 and BRCA2 variants of uncertain significance as either deleterious mutations or benign polymorphisms in breast cancer and ovarian cancer.

The Family Breast & Ovarian Cancer Study involves the use of genetic epidemiology to attempt to provide more information to BRCA-positive families and to enroll high-risk BRCA-negative families for further gene discovery and genomic rearrangement analysis.

The Department of Clinical Genomics-Research also provides an evaluation of multiple BRCA gene probability prediction models.

Colon Cancer Family Registry

The Colon Cancer Family Registry at Mayo Clinic is part of an international research consortium for investigators who conduct population-based and clinic-based interdisciplinary studies on the genetic and molecular epidemiology of colorectal cancer and its behavioral implications.

Congenital disorders of glycosylation

Congenital disorders of glycosylation comprise a family of inherited diseases with dysfunction of the nervous system, liver, heart, kidneys and immune system. Signs and symptoms typically start in childhood. Clinical researchers at Mayo Clinic are working with colleagues in laboratory genetics to refine and expand diagnostic techniques and are leading therapeutic studies in patients affected by congenital disorders of glycosylation.

Familial Cancer Program

The Department of Clinical Genomics-Research has a long-standing interest in identifying and managing all types of familial aggregation of cancers. More than 50 specific rare genetic syndromes have been defined that warrant individualized cancer risk management. Clinical consultation for genetic risk assessment may lead to enrollment in the Familial Cancer Program.

Familial melanoma

In collaboration with other melanoma researchers, our department studies families with a strong history of melanoma to enhance scientific understanding about underlying genes that might account for this type of aggregation.

Lysosomal storage disease

Lysosomal storage diseases affect thousands of people around the world. Effective therapies are being developed, but there are still major gaps in knowledge about the basic mechanisms and natural history of lysosomal storage diseases.

Our investigators in the Department of Clinical Genomics-Research are conducting several studies about lysosomal storage diseases, including research on the epidemiology of lysosomal storage diseases and newborn screening for lysosomal storage diseases.


Clinical research is an important element of the Neurofibromatosis Clinic at Mayo Clinic, including clinical trials that could ultimately lead to significant strides in the treatment of neurofibromatosis, a genetic disorder that causes tumors to form on nerve tissue.


The Department of Clinical Genomics-Research is investigating potential treatment options for schwannoma, a type of nerve tumor of the nerve sheath. Schwannoma is the most common type of benign peripheral nerve tumor in adults. It can occur anywhere in the body, at any age. Research studies are investigating the effects of hormone therapy on human schwannoma xenoimplants in SCID mice and subdural vestibular schwannoma xenografts in SCID mice.