People

Heather C. Mefford, MD, PhD

Principal Investigator
hmefford@uw.edu

Dr. Mefford is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children's Hospital in the Genetic Medicine Clinic. Dr. Mefford’s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing state-of-the-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). The Mefford lab has discovered numerous new epilepsy genes and copy number variants. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.

Alison Muir, PhD.

Postdoctoral Fellow

Alison received her B.S. in Molecular Genetics in 2009 at the University of Toronto and her Ph.D. in Genetics in 2015 at the University of Wisconsin, where she used mouse genetics to study "brittle bone disease". Alison joined the Mefford Lab in the fall of 2015, excited to learn new techniques and apply her basic science knowledge to discovering the underlying genetic causes of early-onset epilepsies.

Malavika Hebbar

Postdoctoral Fellow

Malavika is a medical graduate with a Ph.D. in Medical Genetics from Manipal Academy of Higher Education, Manipal, India. She studied the clinical phenotype and molecular basis of developmental abnormalities of corpus callosum in her doctoral work. Her primary area of interest is gene discovery and novel disease mechanisms in neurodevelopmental disorders. Malavika joined Mefford lab in the fall of 2018. She is highly motivated and all set to explore the human epigenome in pediatric epilepsy. In her spare time, she enjoys exploring Seattle, pursuing her passion in Indian classical dance and spending time with furry friends.

Michele Mehaffey

Bioinformaticist

Michele graduated Carnegie Mellon University with a B.S. in Molecular Biology. She then worked in several areas of biology research including gene therapy for hemophilia and uncovering genetic and molecular causes of thrombocytopenia before returning for her M.S. in Bioinformatics at the University of Washington. From there she worked on testing and validating genome scale prediction algorithms for shRNA libraries before moving to the NCI to assist in setting up the first personalized medicine clinical trials announced in the NIH’s precision medicine initiative. Looking for new academic challenges, Michele came to the Mefford lab to apply her knowledge and help the team solve complex pediatric disorders.

Edith Almanza Fuerte

Research Scientist

Edith received her BS in Molecular, Cellular and Developmental Biology at the University of Washington in 2017. Her interest in medical genetic research was sparked as an undergraduate in the Bamshad lab where she validated and screened for causal variants of various types of Distal Arthrogryposis. As a research scientist in the Mefford lab she has continued to expand her skill set, and loves that there is always something new to learn. In her free time, Edith, enjoys going on runs, dancing and exploring the city.

Aman Buttar

Research Scientist

Aman is a senior at the University of Washington studying biology. He became interested in genetics after participating in research about the molecular genetics of leukemia at the Fred Hutchinson Cancer Research Center. After graduation he hopes to apply for medical school. In his free time he enjoys listening to music, going to the gym, and volunteering.

Jennifer Dempsey

Research Coordinator
dempseyj@uw.edu

Jennifer is the research coordinator for the Mefford Laboratory. Much of her time is spent recruiting, enrolling, and providing information about research projects to families and clinicians. In addition, she collects and organizes all of the clinical data for genotype-phenotype and outcomes studies and performs statistical analyses. Jennifer joined the group in 2013 and also works with the Doherty lab. Her prior experience includes research in the fields of perinatal and reproductive health and osteoporosis. Jennifer has a Masters of Public Health in Epidemiology from the University of Michigan and a BS in Biology from Syracuse University. In her spare time, she enjoys exploring the Pacific Northwest with her husband and two children and perfecting her baking skills.

Apoorva Chowdhary

Apoorva is a Junior at the University of Washington currently pursuing a B.S. in Biochemistry. Her interest in genetics stemmed from taking genomics courses, and observing graduate student research in cancer genotype-phenotype mapping. In the Mefford Lab, she is currently working on a project involving potential splice site variants associated with epilepsy genes. After she graduates, Apoorva plans on applying to medical school and continuing to do research. In her free time, she enjoys swimming, volunteering, and watching movies.

Dianne Laboy Cintrón

Dianne is an undergraduate at the University of Washington studying molecular, cellular and developmental biology. She became interested in the genetic causes of neurological diseases after participating in a schizophrenia research project in Boston. After graduation she hopes to pursue a PhD in genetics. In her free time, she loves to spend time with her family and friends, dance, and listen to Broadway music.

Brian Strobel

Brian is an undergraduate at the University of Washington studying biochemistry and computer science. In the Mefford lab, he works on improving and creating software tools for researchers. Originally, he wanted to become a commercial software developer, but his interest in bioinformatics grew after taking biology and genetics courses and learning about the complicated problems genetics researchers have to solve. He intends on applying to medical school after graduation. In his spare time, he likes to cook, go running, and play the piano.

Natalie Weed

Natalie is an undergraduate student studying neurobiology and economics at the University of Washington. She became interested in epilepsy in children after working with the Epilepsy Foundation Northwest through their youth camp programming. After graduation she hopes to continue her studies in science and medicine. In her free time, she enjoys reading, exploring Seattle, and planning her next adventure!