Research Interests

Genetics of Sex Determination
In humans and other mammals, sex determination generally proceeds in the direction of female development unless genes involved in testis determination are activated.

Recently, we identified a new gene that plays a critical role in male sexual development. When mutated, it causes 46,XY disorder of sex development.

Origins of Jewish Populations
Did you ever wonder if more than 2500 years of recorded history could be preserved in the genetic record? Recent work from genetics labs has validated the Biblical record of a Semitic people who chose a Jewish way of life several thousand years ago.

These observations are the biological equivalent to the discovery of the House fo David inscription, suggesting that despite 2500 years of Diaspora, the relatedness of the Jews of Eastern European ("Ashkenazi"), North African ("Sephardic") and Middle Eastern ("Oriental") origin can be demonstrated by genetic marker analysis.

Hereditary Sensory and Autonomic Neuropathies
Hereditary sensory and autonomic neuropathies (HSAN) are a heterogeneous group of disorders affecting small fiber neurodevelopment.

In addition to various abnormalities of autonomic function, varying degrees of inability to feel pain (analgesia) is common to all of the disorders.

Each HSAN disorder appears to be caused by different genetic error so that neurodevelopmental aberrations result in specific sensory and autonomic nervous system perturbations.

Studying these genes and the mutations occurring in patients, helps us to understand neurodevelopment and learn better ways of diagnosing and treating these patients.