Biography

Nerea Alonso received her PhD in Cancer Biology and Clinical studies at the University of Salamanca, Spain, in 2008.

Her PhD research focused on the molecular analysis of patients with Gorlin syndrome, a rare disease involving developmental alterations and basal cell carcinomas. Then, she moved to Edinburgh, UK, to join the Rheumatology and Bone Disease Unit as a postdoctoral research fellow, working on the characterisation of a model for Paget’s disease of bone.

During her second postdoc at the same laboratory, she had lead a collaborative effort to identify genetic variants predisposing to clinical vertebral fractures in patients with osteoporosis, within the GEFOS international consortium.

She has recently been awarded a grant from the Scottish Chief Scientific Office to perform genetic profiling to predict the response to treatment in patients with severe osteoporosis. Since 2016, her role as postdoctoral research fellow is combined with laboratory management.

She has been awarded the ECTS New Investigator Award, as well as other prizes at international conferences.

She is currently the roving director of the Society of Spanish Researchers in the UK, an idependent organization aiming to develop at social and professional network of researchers in UK, bring science to the general public, serve as scientific advisors and build bridges for collaboration between Spain and UK.

List of 5 Best Publications

• A perspective on muscle phenotyping in musculoskeletal research

  https://pubmed.ncbi.nlm.nih.gov/38553405/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Genome-wide association study identifies genetic variants which predict the response of bone mineral density to teriparatide therapy

  https://pubmed.ncbi.nlm.nih.gov/36941031/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Cancer Incidence, Mortality, Years of Life Lost, Years Lived With Disability, and Disability-Adjusted Life Years for 29 Cancer Groups From 2010 to 2019: A Systematic Analysis for the Global Burden of Disease Study 2019

  https://pubmed.ncbi.nlm.nih.gov/34967848/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects

  https://pubmed.ncbi.nlm.nih.gov/34484122/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Age at Primary Cleft Lip Repair: A Potential Bellwether Indicator for Pediatric Surgery

  https://pubmed.ncbi.nlm.nih.gov/34235039/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Review of Current Real-World Experience with Teriparatide as Treatment of Osteoporosis in Different Patient Groups

  https://pubmed.ncbi.nlm.nih.gov/33915736/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice

  https://pubmed.ncbi.nlm.nih.gov/33724536/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020

  https://pubmed.ncbi.nlm.nih.gov/33658983/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone

  https://pubmed.ncbi.nlm.nih.gov/32978683/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred

  https://pubmed.ncbi.nlm.nih.gov/32025537/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Loss-of-Function Mutations in the ALPL Gene Presenting with Adult Onset Osteoporosis and Low Serum Concentrations of Total Alkaline Phosphatase

  https://pubmed.ncbi.nlm.nih.gov/31793067/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

  https://pubmed.ncbi.nlm.nih.gov/29170203/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

  https://pubmed.ncbi.nlm.nih.gov/28733979/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Clinical and Genetic Advances in Paget's Disease of Bone: a Review

  https://pubmed.ncbi.nlm.nih.gov/28255281/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Novel Genetic Variants Associated With Increased Vertebral Volumetric BMD, Reduced Vertebral Fracture Risk, and Increased Expression of SLC1A3 and EPHB2

  https://pubmed.ncbi.nlm.nih.gov/27476799/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

  https://pubmed.ncbi.nlm.nih.gov/26367794/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Big data challenges in bone research: genome-wide association studies and next-generation sequencing

  https://pubmed.ncbi.nlm.nih.gov/25709812/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5

  https://pubmed.ncbi.nlm.nih.gov/25384351/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Unveiling the mysteries of the genetics of osteoporosis

  https://pubmed.ncbi.nlm.nih.gov/25149083/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

  https://pubmed.ncbi.nlm.nih.gov/23658060/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

  https://pubmed.ncbi.nlm.nih.gov/21623375/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone

  https://pubmed.ncbi.nlm.nih.gov/20499339/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

• Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

  https://pubmed.ncbi.nlm.nih.gov/20436471/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=18aXs_ojvcskDCS1R71ltxjkGp3uxMseazB1KDWRpiW3KgKAp2&fc=None&ff=20241015144702&v=2.18.0.post9+e462414

STRENGTH AND WEAKNESSES AT WORK

- Favorite Cell: Osteoblast

- Favorite Protein: CXCR4

- Best technical skill: GWAS

- Best knowledge: Genetics of osteoporosis

- Research goal: Identify genetic determinants involved in drug response in patients with osteoporosis

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PERSONAL STRENGTH AND WEAKNESSES

- Favorite dish: Spanish tapas

- Favorite place to live: Vancouver

- Best sport skill: hiking

- Worst performance: anything related to music (singing, dancing…)

- Free time activity: Read and travel

- Favorite quote: The difference between the difficult and the impossible is that the impossible takes a little longer time (Ishbel Hamilton-Gordon, Lady Aberdeen)