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• Avni Santani

Avni has been the Scientific Director of the Molecular Genetics Laboratory since 2007. Her primary focus is on new test development and evaluation of emerging technologies. After earning her PhD in genetics from Texas A&M University, she completed her American Board of Medical Genetics Training in clinical molecular genetics and cytogenetics at CHOP.

Using techniques such as sequencing, denaturing high performance liquid chromatography and MLPA, Avni has developed diagnostic tests for over 15 disease genes implicated in disorders such as Opitz G/BBB syndrome, Rett syndrome, BPES syndrome, paraganglioma, neuroblastoma and others. She is board certified in clinical molecular genetics and board eligible in clinical cytogenetics. Her current interests are developing and implementing novel technologies such as next generation sequencing to improve the diagnosis of human genetic diseases.

Selected Publications

2009

JBarton JC, Goncalves E, Santani A,  Chandrasekar B, Morris EC, Stolle CA. Hypogonadotrophic hypogonadism due to intrasellar hemangioblastoma in von Hippel-Lindau syndrome. Am J Med Genet 149A: 549-551, 2009

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