Albert La Spada, M.D., Ph.D.


UC San Diego
9500 Gilman Dr. #0642
La Jolla, CA 92037-0642




Rady Children's Specialists of San Diego

Medical Group / IPA

Rady Children's Specialists

Board Certifications

Clinical Genetics, Clinical Molecular Genetics, Clinical Pathology




Dr. Albert La Spada is the chief of the Genetics Divison at Rady Children's Hospital-San Diego as well as the associate director of the Institute for Genomic Medicine and a professor of pediatrics, cellular and molecular medicine, and neurosciences at UC San Diego.

Dr. La Spada graduated summa cum laude from the University of Pennsylvania with a degree in biology before pursuing a joint M.D.-Ph.D. program at the same institution. While preparing his doctoral thesis, he identified the cause of X-linked spinal and bulbar muscular atrophy (SBMA), a neuromuscular disorder. As SBMA was the first disorder shown to be caused by an expanded repeat tract of DNA, the discovery of a new type of genetic mutation expanded the fields of study in neurodegenerative disease.

After earning his medical degree and doctorate, Dr. La Spada became a laboratory medicine resident at the University of Washington Medical Center and then a clinical genetics fellow in the Division of Medical Genetics. He continued to focus on neurodegenerative diseases as a postdoctoral physician fellow at the Howard Hughes Medical Institute before joining the faculty at the University of Washington Medical Center, where he was a professor of laboratory medicine, medical genetics, pathology and neurogenetics, then became the director of the Center for Neurogenetics and Neurotherapeutics. He came to UC San Diego as a professor and the head of the Genetics Division of the Pediatrics Department and helped to found its Institute for Genomic Medicine and the Sanford Consortium for Regenerative Medicine.

Dr. La Spada's laboratory is attempting to understand the molecular events that underlie the processes of neurodegeneration and neuron cell death in neuromuscular disorders including SBMA and Huntington’s disease. He is using the mechanistic knowledge gained from his discoveries to treat the disorders he researches. He has received numerous grants and awards for his research, including the prestigious Paul Beeson Physician Faculty Scholar Aging Research Award, from institutions including the Hereditary Disease Foundation, the Muscular Dystrophy Association and the National Institutes of Health. He is a member of societies such as the American Society for Clinical Investigation and the Association of American Physicians. In 2015, he was selected to be a Gund-Harrington Scholar for his translational research accomplishments.


Guidelines for the Use and Interpretation of Assays for Monitoring Autophagy (3rd edition)
Klionsky DJ, Abdelmohsen K, et al.

PPAR-delta Is Repressed in Huntington's Disease, Is Required for Normal Neuronal Function and Can Be Targeted Therapeutically
Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Torres MJ, Flores AL, Arreola M, Arbez N, Akimov SS, Gaasterland T, Lazarowski ER, Ross CA, Yeo GW, Sopher BL, Magnuson GK, Pinkerton AB, Masliah E4, La Spada AR

Nemo-Like Kinase Is a Novel Regulator of Spinal and Bulbar Muscular Atrophy
Todd TW, Kokubu H, Miranda HC, Cortes CJ, La Spada AR, Lim J

Muscle-Specific 4E-BP1 Signaling Activation Improves Metabolic Parameters During Aging and Obesity
Tsai S, Sitzmann JM, Dastidar SG, Rodriguez AA, Vu SL, McDonald CE, Academia EC, O'Leary MN, Ashe TD, La Spada AR, Kennedy BK

Proteolytic Cleavage of Ataxin-7 Promotes SCA7 Retinal Degeneration and Neurological Dysfunction
Guyenet SJ, Mookerjee SS, Lin A, Custer SK, Chen SF, Sopher BL, La Spada AR, Ellerby LM

Autophagy in Polyglutamine Disease: Imposing Order on Disorder or Contributing to the Chaos?
Cortes CJ, La Spada AR

Unwinding the Role of Senataxin in Neurodegeneration
Bennett CL, La Spada AR

Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?
Ward JM, La Spada AR

Let-7 Coordinately Suppresses Components of the Amino Acid Sensing Pathway to Repress mTORC1 and Induce Autophagy
Dubinsky AN, Dastidar SG, Hsu CL, Zahra R, Djakovic SN, Duarte S, Esau CC, Spencer B, Ashe TD, Fischer KM, MacKenna DA, Sopher BL, Masliah E, Gaasterland T, Chau BN, Pereira de Almeida L, Morrison BE, La Spada AR

Identification of the SCA21 Disease Gene: Remaining Challenges an Promising Opportunities
Ward JM, La Spada AR

Disease-Modifying Effect of Adiponectin in Model of alpha-Synucleinopathies
Sekiyama K, Waragai M, Akatsu H, Sugama S, Takenouchi T, Takamatsu Y, Fujita M, Sekigawa A, Rockenstein E, Inoue S, La Spada AR, Masliah E, Hashimoto M

Polyglutamine-Expanded Androgen Receptor Interferes with TFEB to Elicit Autophagy Defects in SBMA
Cortes CJ, Miranda HC, Frankowski H, Batlevi Y, Young JE, Le A, Ivanov N, Sopher BL, Carromeu C, Muotri AR, Garden GA, La Spada AR

Something Wicked This Way Comes: Huntingtin
La Spada AR

The SAGA Histone Deubiquitinase Module Controls Yeast Replicative Lifespan via Sir2 Interaction
McCormick MA, Mason AG, Guyenet SJ, Dang W, Garza RM, Ting MK, Moller RM, Berger SL, Kaeberlein M, Pillus L, La Spada AR, Kennedy BK

Nonallele Specific Silencing of Ataxin-7 Improves Disease Phenotypes in a Mouse Model of SCA7
Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL

Endoplasmic Reticulum Stress in Spinal and Bulbar Muscular Atrophy: A Potential Target for Therapy
Montague K, Malik B, Gray AL, La Spada AR, Hanna MG, Szabadkai G, Greensmith L

Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy
Lieberman AP, Yu Z, Murray S, Peralta R, Low A, Guo S, Yu XX, Cortes CJ, Bennett CF, Monia BP, La Spada AR, Hung G

Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy
Cortes CJ, Ling SC, Guo LT, Hung G, Tsunemi T, Ly L, Tokunaga S, Lopez E, Sopher BL, Bennett CF, Shelton GD, Cleveland DW, La Spada AR

The Many Faces of Autophagy Dysfunction in Huntington's Disease: From Mechanism to Therapy
Cortess CJ, La Spada AR

Motor Neuron Degeneration in Spinal and Bulbar Muscular Atrophy Is a Skeletal Muscle-Driven Process: Relevance to Therapy Development and Implications for Related Motor Neuron Diseases
Cortes CJ, La Spada AR

Protein Interaction Analysis of Senataxin and the ALS4 L389S Mutant Yields Insights into Senataxin Post-Translational Modification and Uncovers Mutant-Specific Binding with a Brain Cytoplasmic RNA-Encoded Peptide
Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR

Expression Levels of DNA Replication and Repair Genes Predict Regional Somatic Repeat Instability in the Brain but Are Not Altered by Polyglutamine Disease Protein Expression or Age
Mason AG, Tome S, Simard JP, Libby RT, Bammler TK, Beyer RP, MOrton AJ, Pearson CE, La Spada AR

Dual Effects of beta-Synuclein on the Pathogenesis of Parkinson Disease
Sekigawa A, Sekiyama K, Fujita M, Takamatsu Y, La Spada AR, Masliah E, Hashimoto M

A Functional Deficiency of TERA/VCP/p97 Contributes to Impaired DNA Repair in Multiple Polyglutamine Diseases
Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, Sasabe T, Katsuta A, Motoki K, Shiwaku H, Sone M, Yoshida C, Katsuno M, Eishi Y, Murata M, Taylor JP, Wanker EE, Kono K, Tashiro S, Sobue G, La Spada AR, Okazawa H

S-Nitrosylation of Dynamin-Related Protein 1 Mediates Mutant Huntingtin-Induced Mitochondrial Fragmentation and Neuronal Injury in Huntington's Disease
Haun F, Nakamura T, Shiu AD, Cho DH, Tsunemi T, Holland EA, La Spada AR, Lipton SA

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