The Medical Genetics department is involved in numerous research studies:

  • Neurofibromatosis Type 1 (NF1)
  • A multicenter clinical treatment trial with Pirfenidone.
  • A Phase II clinical treatment trial with AZD217 for adults with NF1. Mayo is coordinating this seven-center study.
  • Schwannoma (acoustic tumor) research
  • Effects of hormone therapy on human schwannoma xenoimplants in SCID mice.
  • Subdural vestibular schwannoma xenografts in severe combined immune deficiency (SCID) mice — in collaboration with Mayo's Otolaryngology department.
  • Breast-ovarian cancer research
  • Inherited Breast Cancer Study
  • Family Breast & Ovarian Cancer Study
  • Evaluation of multiple BRCA (breast cancer) gene probability prediction models
  • Spontaneous arterial dissections

The following list of studies includes individuals age 50 or younger with conditions where no current genetic explanation is apparent. The research looks for other genes that may predispose a condition.

Friedreich's Ataxia Clinic
Friedreich's ataxia (FA) is a common form of inherited ataxia in people under the age of 25. Signs and symptoms of FA include a variety of neurological problems, cardiomyopathy, diabetes and scoliosis. There is no cure, and treatment for people with FA is usually directed at managing symptoms.

The Friedreich's Ataxia Clinic at Mayo Clinic offers comprehensive evaluation and management of adults and children with FA. This care is provided by a multidisciplinary team that includes adult and pediatric neurologists, cardiologists, medical and biochemical geneticists, endocrinologists, physical medicine specialists, and other specialists as needed. Because heart-related problems associated with FA can be potentially life-threatening, a complete cardiology evaluation is included in the assessment.

Patients with FA are invited to partner with researchers in a clinical research study and to donate samples of blood or skin tissue to the Mayo Clinic Mitochondrial Disease Biobank. This research helps to increase understanding of the disease and serves as a base for the development of clinical trials designed to lead to the discovery of new treatments.

If you would like to schedule an appointment, please call 507-284-8198 from 8 a.m. to 5 p.m. Central time, Monday through Friday.

Gene therapy studies for Very Long Chain Acyl Co-A Dehydrogenase (VLCAD) deficiency (a disorder of fatty acid beta oxidation)
This study is working toward a liver gene delivery system to enable safe and stable correction of a VLCAD deficiency. Collaboration is also under way with researchers at the University of Minnesota to develop a plasmid-based delivery system in conjunction with in vivo selection for corrected hepatocytes as an alternative method.

Familial Melanoma
Families with a very strong history of familial melanoma are studied in collaboration with the Melanoma Linkage Consortium for further understanding of underlying gene(s) that may account for this type of melanoma.

Colon Cancer Family Registry
Mayo is a member of this consortium dedicated to furthering knowledge of the environmental and genetic predisposing factors in colorectal cancer. Further information on this project can be found at The National Cancer Institutes Web site

Familial Cancer Program
The Department of Medical Genetics has a long-standing interest in identification and management of all types of familial aggregation of cancers (high rate of cancers within a family). More then 50 specific rare genetic syndromes have been defined that warrant individualized cancer risk management.

Correlation of prenatal ultrasound findings with newborn exam
This collaborative study with Mayo Fetal-Maternal Medicine specialists seeks to validate specific body measurements obtained prenatally by ultrasound with measurements of infants after their births.

Rare or suspected genetic disorders
The department has a long history of research regarding rare or novel genetic disorders and considers this an important function because information in these cases is usually limited.

See more details on the Department of Medical Genetics research pages.