Valerie A. Arboleda, M.D., Ph.D.
- Associate Professor, Pathology and Laboratory Medicine
- Associate Professor, Human Genetics
- Associate Professor, Computational Medicine
- Associate Director, UCLA Molecular Diagnostics Laboratory
Training Program Mentor
Research Areas
Valerie A. Arboleda, M.D., Ph.D., studies how genetic variation contributes to both rare neurodevelopmental disorders such as KAT6A syndrome and common diseases. She seeks to understand the underlying function of genetic mutations at their most fundamental level in order to identify potential targeted therapies for a wide variety of conditions.
As a pathologist, Arboleda’s clinical practice centers around genetic testing and development of novel genomic diagnostic tests. These genomic-based assays span clinical exome sequencing for rare genetic diagnostics to infectious disease diagnostic assays such as the SwabSeq saliva tests that tested over two million people over the course of the COVID-19 pandemic.
Arboleda’s research also focuses on the use of genomic technology to understand how single-gene mutations disrupt cell fate decisions and cellular homeostasis. She uses patient-derived cell and mouse model systems to understand how these rare mutations cause disease at the molecular and organismal level.
Research Projects
- Identifying how mutations in chromatin modifier genes (e.g. KAT6A and ASXL1) disrupt stem cell fate specification The crucial process by which undifferentiated cells receive molecular signals and genetic cues that guide them towards developing into specific cell types with distinct functions. This process is essential for the formation of various tissues and organs during embryonic development and plays a role in tissue regeneration in adults. cell fate specification The crucial process by which undifferentiated cells receive molecular signals and genetic cues that guide them towards developing into specific cell types with distinct functions. This process is essential for the formation of various tissues and organs during embryonic development and plays a role in tissue regeneration in adults.
- Establishing the gene regulatory mechanisms controlled by histone acetyltransferases during early human development
- Elucidating the intersection between rare and common genetic variants and their contributions to the development and prognosis of disease
- Developing genomic diagnostic technologies for infectious disease testing to prevent the next pandemic
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Medical Board Certification
- Clinical Pathology, American Board of Pathology, 2017
Fellowship
- Molecular Genetic Pathology, David Geffen School of Medicine at UCLA, 2017
Residency
- Clinical Pathology, David Geffen School of Medicine at UCLA, 2017
Degrees
- M.D., David Geffen School of Medicine at UCLA, 2014
- Ph.D., Human Genetics, David Geffen School of Medicine at UCLA, 2012
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