Heather C. Mefford

Heather C. Mefford, MD, PhD


Associate Professor

Clinical Genetics;
Director, Mefford Lab

University of Washington
Box 356320
Seattle, WA 98195-6320
Phone: 206 543-9572
Email: hmefford@uw.edu
Seattle Children's Profile

Heather C. Mefford, MD, PhD, is an assistant professor of pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children’s Hospital in the Medical Genetics Clinic. Dr. Mefford has a research laboratory devoted to the discovery of novel genomic disorders – conditions caused by small deletions or duplications (copy number changes) of DNA.

She has 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. In addition, her research group uses state-of-the-art technology to discover new copy number changes that underlie a variety of pediatric conditions. Examples include neurocognitive disorders such as epilepsy and intellectual disability and congenital abnormalities including craniosynostosis and kidney defects. Dr. Mefford’s clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with neurocognitive defects of unknown etiology.
Faculty and Staff Directory

Division Chief


Bamshad, Michael J., MD

Faculty


Adam, Margaret L.P., MD
Beck, Anita E., MD, PhD
Beier, David Randolph, MD, PhD
Dobyns, William B., MD
Doherty, Daniel A., MD, PhD
Glass, Ian A., MD, MB ChB
Hahn, Sihoun, MD, PhD
Hing, Anne V., MD
Johnson, Rebecca H., MD
Mefford, Heather C., MD, PhD
Merritt, J. Lawrence, MD
Millen, Kathleen J., PhD
Miller, Daniel G., MD, PhD
Mirzaa, Ghayda, MD
Osborne, William R.A., PhD
Pagon, Roberta A., MD
Scott, C. Ronald, MD
Sun, Angela, MD
Wallace, Stephanie E., MD

Fellows


Aldinger, Kim, PhD
Carvill, Gemma, PhD
Chong, Jessica X, PhD
Gallego, Jabier, PhD
Geister, Krista, PhD
Ha, Seungshin, PhD
Myers, Candace, PhD
O'Day, Diana, PhD
Yu, Joon-Ho, MPH, PhD

Advanced Registered Nurse Practitioners


Earl, Dawn L., ARNP
Hale, Susan L., MN, ARNP

Genetic Counselors


Conta, Jessie, MS, CGC
Golden-Grant, Katie L, MS, CGC
Jamal, Seema M., MSc, CGC, CCGC
Ramsdell, Linda, MS, CGC
Schubert, Penny, MS, CGC
Sternen, Darci, MS, CGC
Uhrich, Stefanie, MS, CGC

Research Staff


Amell, Amanda M., BS
Bacus, Tamara J., BS
Bofferding, Kathryn, BS
Buckingham, Kati, BS
Buroker, Norman E., PhD
Cook, Joseph, MS
Dempsey, Jennifer C., MPH
Eisenhauer, Melissa M.
Elliott, Susan E.
Frasher, Vicki A.
Garretson, Janet, MSW
Gildersleeve, Heidi, MS
Harrell, Tanya, BS
Heard, Jeff, BS
Heffernan, Janie, MS, RD
Huang, Jie-Yu, PhD
Lam, Jennfier P., MS
McMillin, Maggie J., BS
Musick, Katie, BA
Naluai-Cecchini, Theresa
Ogata, Beth, MS, RD, CSP
Person, Richard E.
Petek, Lisa, BS
Phelps, Ian, BS
Ragothaman, Kevin, BS
Shanker, Aditi, BA
Trahms, Cristine M., MS, RD
Wu, Zaining

Division Administrative Staff


Chin, Eileen, BA (Acc)
Ngai, Susanna, BS