Joseph F. Cubells, M.D., Ph.D.
Associate Professor
jcubells@genetics.emory.edu
404.727.2005
Office: 7305 WMB
Lab: 7213 WMB
Woodruff Memorial Building
1638 Pierce Dr.
Atlanta, GA 30322

PubMed search for Dr. Joseph F. Cubells

Areas of Specialization/Research Interests:
Psychiatric and Human Behavioral Genetics
Endophenotypes related to psychiatric illness
Psychopathology associated with genetic and chromosomal abnormalities

Professional Memberships and Activities:
Reviewer, Behavioral Genetics and Epidemiology Study Section (BGES), Center for Scientific Review, National Institutes of Health
American Society of Human Genetics
Society for Neuroscience
Society of Biological Psychiatry
American College of Neuropsychopharmacology

Education:
B.A., Johns Hopkins University, 1980
M.D. and Ph.D. (Neuroscience), Albert Einstein College of Medicine, 1988
Psychiatric Residency, Columbia University/New York State Psychiatric Institute

Research Interest Description:
While family and twin studies provide strong support for genetic contributions to many common psychiatric disorders, the roles of individual genes in these disorders have been difficult to determine, probably because multiple genes interact with environmental and developmental influences to produce these disorders. Our lab has pursued analysis of endophenotypes as a strategy for reducing the complexity of genotype-phenotype relationships in behavioral disorders. Endophenotypes are traits that correlate or otherwise are relevant to a complex disorder, but which themselves more directly reflect the action of one or a few genes. A major focus of our research to date has been on plasma levels of dopamine ß-hydroxylase, the enzyme catalyzing conversion of dopamine to norepinephrine. Building on early linkage findings from other groups, we have shown that sequence variation at the DBH locus accounts for up to 50% of the variance in plasma DßH activity, and we have used this finding as a basis for investigation of psychosis in major depression and cocaine dependence.

As a new member of the Department of Human Genetics, and of Psychiatry and Behavioral Sciences, I hope to expand our work into other biochemical, physiological and psychological traits associated with psychiatric illness. For example, neurochemical markers of hypothalamic-pituitary-adrenal axis function represent excellent endophenotypes for investigation of how genes may modify expression of major depression, psychotic illness, post-traumatic stress disorder, and substance abuse. We are developing candidate-gene approaches for investigating such endophenotypes.

An additional interest of mine is understanding and treating psychiatric symptoms and syndromes associated with clearly defined genetic and chromosomal disorders such as the 22q11 deletion syndrome (in which 25-30% of adults with the syndrome meet criteria for schizophrenia). I am collaborating with colleagues in Human Genetics and Psychiatry and Behavioral Sciences to develop a multi-disciplinary clinic addressing the complex clinical needs of patients and families with 22q11DS.