© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Research Projects

1. Genetic basis of overgrowth syndromes

In collaboration with Dr. Pamela Kempert and our colleagues in the Division of Hematology-Oncology of the Pediatrics Department we are pursuing studies to identify the genetics of overgrowth conditions and their associated malignancies.

If your child has been diagnosed with an overgrowth syndrome and has been treated for a malignancy, your family may be able to aid our studies in identifying genes associated with these conditions. We are currently pursuing studies on the following conditions:

• Perlman syndrome
• Beckwith-Wiedemann
• Simpson-Golabi-Behmel
• Hemihyperplasia/Hemihypertrophy
• Sotos syndrome
• Weaver syndrome
• Proteus syndrome
• Marshall-Smith syndrome

2. Genetic basis of autism-macrocephaly

In collaboration with Dr. Stan Nelson and our colleagues in the Department of Human Genetics we are pursuing studies to identify genetic changes in individuals with autism that have an enlarged head circumference. If your child fits the above criteria, your family may be able to participate in these studies.

Consent form for our studies

If you would like to participate in these efforts, please complete the required forms below:

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