About

David R. Adams is an oral and maxillofacial surgeon and an adjunct associate professor in the Department of Otolaryngology: Head & Neck Surgery. He holds a B.S. in Biological Sciences from Brigham Young University and a D.D.S. from the University of California, Los Angeles School of Dentistry. His residency in Oral and Maxillofacial Surgery was completed at UCLA School of Dentistry. Dr. Adams is board certified by the American Board of Oral & Maxillofacial Surgery. His academic and clinical work focuses on complex oral surgical procedures, including the treatment of medication-related osteonecrosis of the jaw and traumatic dislocation of mandibular condyles. He has contributed to scholarly publications on surgical reduction of mandibular dislocations and the treatment controversies surrounding osteonecrosis of the jaw, demonstrating his expertise in surgical innovation and patient care in his specialty.

Research topics

• Medicine
• Computer Science
• Pathology
• Intensive care medicine
• Genetics
• Chemical engineering
• Chromatography
• Dermatology
• Biology
• Chemistry
• Pharmacology
• Organic chemistry
• Biochemistry

Selected publications

• RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency

  Molecular Genetics and Metabolism · 2025-04-08 · 2 citations

  articleOpen accessSenior author

  One in 10 individuals has a rare disease, with exome and genome sequencing yielding an overall diagnostic rate of approximately 30 %. RNA sequencing can augment genome analysis and improve diagnosis. We present a young woman with global developmental delay, poor growth, distinctive facial features, osteopenia, premature ovarian insufficiency, and ocular abnormalities who had non-diagnostic genome sequencing. RNAseq performed on her skin fibroblasts showed that NBAS gene expression was significantly reduced compared with controls. Manual inspection of the binary alignment map (BAM) files revealed compound heterozygous variants in NBAS: a rare deep intronic variant NM_015909.4:c.2423 + 403G > C which creates a hypomorphic pseudoexon not seen in control samples (gnomad allele frequency (AF) 0.000006572); and a rare premature termination codon (PTC) NM_015909.4:c.4753C > T; p.Arg1585Ter (gnomad AF 0.000006572). Both variants are predicted to cause nonsense mediated decay of transcripts, as the pseudoexon contains a PTC. Biallelic variants in NBAS are associated with two major phenotypes, i.e., infantile liver failure syndrome 2 (MIM # 616483) and short stature, optic nerve atrophy, and Pelger-Huet anomaly (MIM # 614800). Our patient, the first reported with one loss of function and one splice variant resulting in an out of frame transcript in NBAS, manifested a severe phenotype compared with previously reported individuals. This case demonstrates the utility of incorporating RNAseq to generate diagnostic candidates and expands the phenotypic spectrum of NBAS deficiency.

  PublisherDOI

• Full capacity–volumetry of sharp exp‐integrability law

  Journal of the London Mathematical Society · 2025-08-01 · 1 citations

  article1st author

  Abstract This paper uses law of trichotomy to show a full range of capacity–volumetry of the sharp ‐integrability law which covers the sharp Adams–Moser–Trudinger ‐integrability law for higher order derivatives, thereby finding a new approach to a relatively complete family of the essential capacity–volumetric estimates with the optimal constants including the sharp Ahlfors–Beurling–Pólya–Szegö and Morrey–Sobolev capacity–volumetric inequalities.

  PublisherDOI

• Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

  Rare · 2025-01-01 · 2 citations

  articleOpen access

  Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5 , encoding the lysosomal transmembrane sialic acid exporter, sialin. Defective sialin function leads to sialic acid accumulation in lysosomes, contributing to neurodegeneration. While glycosphingolipid (GSL) metabolism is altered in other lysosomal storage disorders, its role in FSASD remains poorly understood, especially due to the restricted availability of biospecimens. This study investigated GSL levels in FSASD plasma and cerebrospinal fluid (CSF) using two normal-phase high-performance liquid chromatography assays. In plasma, GM1a was significantly elevated, while GM2 was decreased, with no significant alterations in other GSL species. In CSF, total GSLs, GM1a, GM3, GD3, GD1a, and GD1b were significantly elevated compared to comparison samples. These results reveal dysregulated GSL metabolism and suggest the potential of gangliosides as biomarkers. Further research is warranted to elucidate the biological implications of these alterations and their contributions to FSASD pathogenesis. • Knowledge pertaining to lipid metabolism dysregulation in FSASD is limited. • Specific glycosphingolipid species are altered in FSASD plasma and CSF. • Sialic acid-containing gangliosides are significantly elevated in FSASD CSF. • Lipid dyshomeostasis is a secondary biochemical defect in FSASD.

  PublisherDOI

• Software Ruggedized Atom Interferometry for Strapdown Mobile Quantum Inertial Sensing

  2025-05-04

  article

  Navigation systems based on quantum sensors are a viable alternative to use of GNSS, however their sensitivity to environmental effects makes deployment in harsh environments challenging. We present results demonstrating that software ruggedization techniques can mitigate these effects and enhance the performance of these systems in real-world environments. Here, we report world-first demonstrations of a dual quantum gravimeter operating in a relevant maritime environment, with an unattended uptime of >144 hours, as well as the first demonstrations of software ruggedized sensing in a real-world motional environment. We demonstrate recovery of signal due to software compensation of motion and a 2X contrast enhancement due to optimized velocity selection. In addition, we present a compact 3-axis quantum inertial sensor capable of high repetition rate operation in extremely harsh environments.

  PublisherDOI

• A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort

  Genetics in Medicine · 2025-05-22 · 1 citations

  article
  PublisherOA PDFDOI

• Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

  medRxiv · 2025-12-18 · 1 citations

  articleOpen access

  Allele-specific expression (ASE) outlier detection is a powerful tool for identifying genes affected by large effect rare genetic regulatory variants but suffers from data sparsity and noisy signal in low-count genes. Genome phasing can be utilized to aggregate ASE signal along haplotypes to alleviate both sparsity and noise. Yet statistical tools for utilizing haplotype-level ASE data for rare variant interpretation are lacking. Here, we present ANEVA-h, to quantify the amount of genetic variation in gene expression from haplotype-level ASE data in a population, enabling more accurate and comprehensive detection of regulatory effects. We apply ANEVA-h to GTEx project data, along with a compatible dosage outlier test, to show an over 2-fold increase in the number of testable genes, reduction of spurious outlier calls, and improved enrichment for rare high-impact variants. In clinical cohorts of neuromuscular and congenital heart disease, it enhances gene prioritization and identifies candidate diagnoses missed by DROP-MAE and ANEVA. Finally, we analyze globally diverse populations to characterize the impact of ancestry background in reference and the test population. We provide tools and data necessary to facilitate integration of haplotype level ASE outlier testing in rare variant interpretation pipelines.

  PublisherOA PDFDOI

• Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2025-07-22 · 1 citations

  articleOpen access

  The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions. Patients accepted to the program receive a careful review of their medical records and a tailored inpatient evaluation at the NIH Clinical Center in Bethesda, MD. For the pediatric population, systematic neurodevelopmental phenotypic evaluations are included. Here we report neurodevelopmental phenotyping data on pediatric participants enrolled in the NIH UDP from 2009 to 2019, with genetic findings reported through 2025. Results for 219 pediatric participants included a high rate of intellectual disability, with 27% of the sample in the severe-to-profound range. The phenotype often included multisystemic involvement, with motor impairments as well as vision and hearing concerns. For the 46% for whom a genetic diagnosis was made, there was greater impairment, including more severe intellectual disability and more frequent motor impairments as well as minimal verbal status. This study documented that severe neurodevelopmental impairments are frequently present in the unique pediatric undiagnosed patients enrolled in NIH UDP; the diagnosis of a genetic condition was associated with greater impairment.

  PublisherOA PDFDOI

• Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

  Nature Communications · 2025-11-26 · 2 citations

  articleOpen access

  Neurodevelopmental proteasomopathies are a group of disorders caused by variants in proteasome subunit genes, that disrupt protein homeostasis and brain development through poorly characterized mechanisms. Here, we report 26 distinct variants in PSMC5, encoding the AAA⁺ ATPase subunit PSMC5/RPT6, in individuals with syndromic neurodevelopmental conditions. Combining genetic, multi-omics and biochemical approaches across cellular models and Drosophila, we unveil the essential role of proteasomes in sustaining key cellular processes. Loss of PSMC5/RPT6 function impairs proteasome activity, leading to protein aggregation, disruption of mitochondrial homeostasis, and dysregulation of lipid metabolism and immune signaling. It also compromises synaptic balance, neuritogenesis, and neural progenitor cell stemness, causing deficits in higher-order functions, including learning and locomotion. Pharmacological targeting of integrated stress response kinases reveals a mechanistic link between proteotoxic stress and spontaneous type I interferon activation. These findings expand our understanding of proteasome-dependent quality control in neurodevelopment and suggest potential therapeutic strategies for neurodevelopmental proteasomopathies.

  PublisherOA PDFDOI

• Targeting non-canonical NF-κB signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-02-03 · 3 citations

  preprintOpen access

  Abstract CYLD cutaneous syndrome (CCS) skin tumors develop from puberty onwards, can number in the hundreds and progressively grow over time. CCS patients lack medical therapies and require repeated surgery to control tumor burden. CYLD loss of heterozygosity (LOH) drives tumor growth, and CCS tumors have previously been shown to demonstrate increased canonical NF-κB and Wnt signalling. Here, we demonstrate evidence of non-canonical NF-κB signalling in CCS tumor keratinocytes, with increased p100 to p52 processing and RelB protein expression compared to normal skin. Utilizing complementary transcriptomics and proteomics on patient derived CCS tumor cell fractions, we identify IκB kinase alpha (IKKα) as a candidate target in the non-canonical NF-κB signalling pathway. A novel, highly selective, IKKα inhibitor (SU1644) used in patient derived CCS tumor spheroid cultures demonstrated that IKKα inhibition reduced tumor spheroid viability. These data provide the pre-clinical rationale for the assessment of topical IKKα inhibitors as a novel preventative treatment for CCS. Teaser Topical IKKα inhibition emerges as a potential therapy for CYLD cutaneous syndrome by targeting non-canonical NF-κB signalling Graphical abstract

  PublisherOA PDFDOI

• Ampyrone (4-Aminoantipyrine) is a Direct Agonist of Human Tyrosinase and Potential Therapeutic for Oculocutaneous Albinism and Disorders of Hypopigmentation

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-10-15

  preprintOpen access

  Abstract Significant loss of pigmentation can increase visual disability, skin cancer risk, and psychosocial stress. Tyrosinase (TYR) catalyzes the first and rate-limiting step of melanin synthesis. Inhibitors of TYR are well established and are currently used in clinical settings; however, there is a dearth of direct activators of TYR. Here, using a unique human TYR construct, high-throughput screening, and computational analysis techniques, we identified ampyrone as a TYR activator. Ampyrone increased the in vitro catalytic activity of the intramelanosomal domain of human TYR (hTYR) and its hypomorphic variant, P406L, a cause of oculocutaneous albinism type 1B (OCA1B). Moreover, ampyrone induced melanin synthesis in both wild-type and OCA1B human melanocytes, as well as 3-dimension (3D) human skin cultures. Our results reveal ampyrone as a lead compound for first-in-class TYR activators, potentially accelerating the discovery of novel therapies for patients with genetic and acquired diseases of hypopigmentation.

  PublisherOA PDFDOI

Frequent coauthors

• William A. Gahl

  582 shared

• May Christine V. Malicdan

  National Institutes of Health

  330 shared

• Cynthia J. Tifft

  286 shared

• Camilo Toro

  National Institutes of Health

  283 shared

• Thomas C. Markello

  267 shared

• Lynne A. Wolfe

  National Institutes of Health

  224 shared

• Hugo J. Bellen

  Baylor College of Medicine

  159 shared

• Gretchen Golas

  National Human Genome Research Institute

  154 shared

Education

• Other, Oral and Maxillofacial Surgery

  UCLA

• Other

  Brigham Young University