Plenary Lecture 7 - AUA Bruce Stewart Memorial Lecture - Identifying the Genes that Control Reproduction Using a Human Disease Model
Time:9:00 am - 9:45 am
Location:Ballroom 6 - San Diego Convention Center
William F. Crowley, Jr., M.D., Harvard Reproductive Endocrine Sciences Center
American Urological Association Bruce Stewart Memorial Lecture: Identifying the Genes that Control Reproduction Using a Human Disease Model
Needs Assessment and Description
The availability of lowered DNA sequencing costs gives us the unique opportunity of defining human disease models whose genetics are clear but not yet defined. Isolated gonadotropin-releasing hormone (GnRH) deficiency is a Mendelian disorder whose genetic study has already identified over 14 causative genes. These genes have pieced together a remarkable understanding of the origins and defects in GnRH neurons and initiated research opportunities that could only have been defined in the human. This live course will cover lessons learned from this human disease model and will have widespread applicability to endocrinologists, urologists and obstetrician/gynecologist-trained clinicians caring for such patients, as well as to reproductive scientists.
At the conclusion of this session, participants should be able to:
- Describe the power of human genetics and human disease models to define the genetic architecture of disease.
- Elucidate the genetic control of the GnRH neurons and how they govern human reproduction.
- Discuss the issues of monogenic versus oligogenic disorders.
- Potentially participate in a national effort to provide free gene sequencing to patients.
An 18-year-old male with anosmia who has not undergone any sexual development and has a first cousin on his paternal uncle’s side with a similar disorder is requesting genetic testing. After participating in this session, in my practice I will order the following genetic test(s) first:
- Deletion analysis of the KAL1 gene
- Direct sequencing of the KAL1 gene
- Direct sequencing of the FGFR1 gene
- Direct sequencing of the PROK2 and PROKR2 genes
- Not applicable to my area of practice