Daniah Thompson Beleford, M.D., Ph.D.
Assistant Professor of Pediatrics and Physiology & Membrane Biology
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Locations and Contact
Philosophy of Care
Rare genetic conditions have profound impacts on patients and their families. Dr. Beleford's philosophy of care is that the needs of the patient come first. Dr. Beleford strives to help patients and their families make informed medical decisions about their care, including decisions about pursuing genetic testing, based on their unique needs and desired outcomes.
Clinical Interests
Dr. Beleford is a clinical geneticist and physician scientist who provides care for children, adults, and families with rare, complex genetic disorders including chromosome disorders, single-gene disorders, and multifactorial disorders with complex inheritance. She has a special clinical interest in vascular anomalies - conditions that cause arterial, venous, and lymphatic malformations. She is also interested in rare genetic conditions that occur in adults and in disorders of sexual development in adults.
Research/Academic Interests
Dr. Beleford is the Principal Investigator of an independent research lab. The Beleford Lab studies underlying changes in molecular signaling that cause vascular malformations (abnormal development of blood vessels) in Hereditary Hemorrhagic Telangiectasia and other genetic vascular conditions. Hereditary Hemorrhagic Telangiectasia (HHT) is a rare Mendelian vascular condition that is characterized by arteriovenous malformations (AVMs), direct connections between arteries and veins without intervening capillary beds. AVMs may form in any organ but are most often detected in the lung, liver, brain, and GI tract and confer significant mortality risk from devastating rupture or hemorrhage. HHT derives its name from small, dilated blood vessels (telangiectases) that form in the skin and mucosal surfaces of most patients. HHT is caused by heterozygous loss of function of ENG or ACVRL1 (aka ALK1), genes that encode endothelial receptors for TGFβs and BMPs. SMAD4, the common co-SMAD for TGFβ and BMP9 signaling, causes 1% of HHT cases. A fundamental question to the study of HHT pathobiology is why some patients develop vascular malformations while others do not. We hypothesize that the genetic modifier PTPN14 (protein tyrosine phosphatase, nonreceptor, 14) modifies and potentiates vascular malformations in HHT and other vascular conditions. It has previously been shown that single nucleotide polymorphisms within PTPN14 associate with pulmonary AVMs in two large HHT cohorts. Our preliminary data suggest that the PTPN14 gene product binds and stabilizes BMP9 signaling components in endothelial cells, inhibiting ubiquitin-mediated protein turnover and promoting vascular stability. The Beleford Lab seeks to clarify the molecular interplay between PTPN14 and BMP9, TGFβ, and HIPPO signaling pathway components with the goal of understanding what causes the loss of vascular integrity in HHT and other severe vascular conditions in order to ultimately tailor targeted therapeutic interventions.
Division
Genomic Medicine
Undergraduate School
B.A., Genetics and Development, Cornell University, Ithaca NY 1996
Medical School
M.D., Mayo Clinic College of Medicine Medical Scientist Training Program (MSTP), Rochester MN 2014
Other School
Ph.D, Biochemistry and Molecular Biology, Mayo Clinic College of Medicine Medical Scientist Training Program (MSTP), Rochester MN 2013
Internship
Internal Medicine, University of Minnesota, Minneapolis MN 2013-2016
Residency
Medical Genetics and Genomics, UC an Francisco School of Medicine, San Francisco CA 2016-2018
Fellowship
Medical Genetics and Genomics, UC San Francisco School of Medicine, San Francisco CA 2018-2019
Fellowship
NIH T32 Postdoctoral Fellow/Lung Biology, UC San Francisco School of Medicine, San Francisco CA 2018-2019
Fellowship
UC President's Postdoctoral Research Fellowship/Vascular Biology, UC San Francisco School of Medicine, San Francisco CA 2021-2023
Western Society for Pediatric Research/Society for Pediatric Research Award to Enhance Diversity in the Research Workforce, May 2024,
NIH National Center for Advancing Translational Sciences (NCATS) Loan Repayment Award, 2023-2025,
Faculty Scholar of the Center for the Advancement of Multicultural Perspectives on Science (CAMPOS) at UC Davis, 2023-2024,
University of California President's Postdoctoral Fellowship, 2021-2023,
UC President’s Postdoctoral Fellowship, University of California, San Francisco 2021-2023,
Travel Award, Poster presentation at the 22nd International Vascular Biology Meeting, Oakland, California, 2022,
NIH Diversity Supplement to NCI Award R01CA210561 2019-2021,
NIH Training Grant 2 T32 HL 7185-41, Dean Sheppard, PI 2018-2019,
NIH Training Grant T32, UCSF Lung Biology Program 2018-2019,
A complete list of published work can be found here.
Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history. Clin Neuropathol. Sep/Oct 2017; 36(5):213-221. PMID: 28699883.
Kumar A, Zastrow DB, Kravets EJ, Beleford D, Ruzhnikov MRZ, Grove ME, Dries AM, Kohler JN, Waggott DM, Yang Y, Huang Y; Undiagnosed Diseases Network, Mackenzie KM, Eng CM, Fisher PG, Ashley EA, Teng JM, Stevenson DA, Shieh JT, Wheeler MT, Bernstein JA. Extracutaneous Manifestations in Phacomatosis Cesioflammea and Cesiomarmorata: Case Series and Literature Review. American Journal of Medical Genetics A. Jun 2019; 179(6):966-977. PMID: 30920161.
Beleford DT, Diab M, Qubty WF, Malloy MJ, Long RK, Shieh JT. Schimke Immunoosseous Dysplasia and Management Considerations for Vascular Risks. American Journal of Medical Genetics A, Jul 2019;179(7):1246-1252. PMID: 31039288.
Ha TK, Mardy AH, Beleford D, Spanier A, Wayman BV, Penon-Portman M, Wiita AP, Shieh JT. Characterization of a Novel X-Linked Copy Number Variation Associated with Overgrowth. American Journal of Medical Genetics C Semin Med Genet, Dec 2019; 181(4):644-64. PMID: 31762227.
Mendelsohn* B, Beleford D, Abu-El-Haija A, Alsaleh N, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya F, Slavotinek A. *Authors contributed equally. A novel truncating variant in ring finger protein A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. American Journal of Medical Genetics A. Mar 2020;182(3):513-520. PMID: 31880405.
Slavotinek* A, Misceo* D, Mathisen L, Frengen E, Foremann M, Hurtig J, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada Veras J, Duncan JL, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH. *Both authors contributed equally. Biallelic variants in EXOSC5 cause developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human Molecular Genetics. 2020 Jun 5; PMID: 32504085.
Beleford DT, Van Ziffle J, Hodoglugil U, Slavotinek A. A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. European Journal of Medical Genetics. Jun 10 2020; 103969. PMID: 32534219.
Shieh* JT, Penon-Portmann* M, Wong* KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher R, Mendelsohn B, Tenney J, Beleford D, Perry H, Chow SK, Sharo A, Qi Z, Yu J, Klein O, Martin P, Kwok PY, Boffelli D. *Authors contributed equally. Application of Full Genome Analysis to Diagnose Rare Monogenic Disorders. NPJ Genomic Medicine. 2021 Sep 23;6(1):77.
Beleford DT*, Gillam A*, Blieden S, Mahmood A, Schwarze U, Leistritz D, Byers P, Shieh JT, Norton ME. Prenatal Characterization of a Severe Form of Osteogenesis Im-perfecta Caused by a Familial IFITM5 Variant. European Journal of Medical Genetics. in press. *Authors contributed equally.