Genetics and Genomics
Data update as of 31/12/2023
Area Coordinator:
- Carmen Ayuso García
CAyuso@fjd.es
Consulta su CV
The Genetics and Genomics Area develops its scientific activity through different projects focused on rare and common genetic diseases and their physio-pathological, cellular and molecular nature; the development and validation of diagnostic techniques and algorithms; and epidemiological analysis in series of patients, aimed at the design of useful tools with a clear clinical applicability and new therapeutic strategies.
Its objectives include both its own objectives and transversal objectives to provide methodological and knowledge support to the rest of the research groups and areas:
AREA OBJECTIVES
- Knowledge of the molecular basis of rare and complex diseases.
- Development of algorithms for the analysis and interpretation of omics data using Bioinformatics and Systems Biology.
- Translation of biotechnology to postnatal diagnosis and prevention of genetic pathologies through prenatal and reproductive diagnosis in different fields: ophthalmology, paediatrics, neurology, hereditary cancer, cardiology, nephrology and others.
- Therapeutic approaches based on pharmacogenetics (PGx), cell and gene therapies, and molecular targets.
- New experimental approaches and innovation. Single cell and mosaicism study; WGS of long sequences and optical genome. Validation of diagnostic kits for repeat expansion pathologies, new developments in DPNI and DGP-M /DG-A.
CROSS-CUTTING OBJECTIVES
- Genomic approach, opening new lines for the study of common diseases: neurological, psychiatric, oncological and cardiovascular.
- Identification of genetic determinants and PGx that contribute to the evolution of rare or complex diseases: selection of a more individualised therapy, so-called genomic or personalised medicine.
- Analysis and implementation of organisational, ethical and regulatory aspects in Genomics, and Bigdata and AI.
The research lines of the Genetics and Genomics of Rare and Complex Diseases group are focused on the genetic, clinical and epidemiological study of several hereditary and chromosomal diseases, with a strong translational component. Strategically, the validation and implementation of new massive sequencing techniques is a priority objective because of their translation to clinical diagnosis, as well as their potential as an experimental support tool for the molecular characterisation of multiple physiological and pathological processes. These tools allow for diagnosis and genetic counselling in malformations, and monogenic and genomic diseases in all stages of life, from preconception, embryonic and foetal (prenatal study, especially by non-invasive techniques), to postnatal, including predictive studies.
A crucial aspect is the analysis, harmonisation and implementation of new technologies (NGS, AI) within the appropriate ethical and regulatory framework, allowing for the primary and secondary use of omics information and health data to obtain new knowledge (research) and improve healthcare processes.
The Genetic Susceptibility to Rare and Complex Diseases group works on characterising the genetic and epigenetic alterations underlying the origin and development of T-cell lymphoblastic neoplasms (T-LBL and T-ALL), analysing both the coding and non-coding genomes, with the aim of contributing to the improvement of the disease’s diagnosis and prognosis, and to the proposal of new targeted therapies based on the presumably pathological alterations detected in the genomic analyses, within the framework of personalised precision medicine.
In 2023, the change to the IIS-FJD’s Areas and Groups Structure was approved. Therefore, as of 2024, the Genetics and Genomics area will be renamed Genomics and Epidemiology, and will include among its groups the Preventive Medicine-Public Health and Primary Care group, which comes from the Health Technology and Innovation area.
This change was approved by the Research Committee and the External Scientific Committee of the IIS-FJD.
Other changes in the group composition of the areas will be addressed during 2024.
Genetics and Genomics Area Scientific Activity
|
2023 |
Genetics and Genomics of Rare and Complex Diseases |
Genetic Susceptibility to Rare and Complex Diseases |
TOTAL |
|
|
PROJECTS |
→EU/NIH PROJECTS |
4 |
// |
4 |
|
→ISCIII PROJECTS |
11 |
// |
11 |
|
|
→CYBER PROJECTS |
1 |
// |
1 |
|
|
→MINISTERIAL PROJECTS |
3 |
// |
3 |
|
|
→ACM PROJECTS |
3 |
// |
3 |
|
|
→AWARDS |
// |
// |
// |
|
|
→UNOFFICIAL PROJECTS |
11 |
1 |
12 |
|
|
→OBSERVATIONAL STUDIES |
// |
// |
// |
|
|
TOTAL |
33 |
1 |
34 |
|
|
CLINICAL TRIALS |
→EARLY PHASES (I, I/II, II) |
// |
// |
// |
|
→LATE PHASES (II/III, III, III/IV AND IV/OTHER) |
// |
// |
// |
|
|
TOTAL |
// |
// |
// |
Genetics and Genomics Area Publications
|
2023 |
Total no. of publications |
No. of publications with IF |
Accumulated IF |
Average annual IF |
No. of journals in Q1 |
% of journals in Q1 |
No. of publications in Open Access |
No. of Clinical Practice Guidelines |
|
Genetics and Genomics of Rare and Complex Diseases |
27 |
27 |
241,2 |
8,93 |
18 |
66,67% |
24 |
0 |
|
Genetic Susceptibility to Rare and Complex Diseases |
4 |
4 |
23,2 |
5,80 |
3 |
75,00% |
4 |
0 |
|
GENETICS AND GENOMICS AREA |
31 |
31 |
264,4 |
8,53 |
21 |
67,74% |
28 |
0 |
List of the five most relevant publications of the Genetics and Genomics Area during 2023
HLA-A*11:01 and HLA-C*04:01 are associated with severe COVID-19.
Castro-Santos P, Rojas-Martinez A, Riancho JA, Lapunzina P, Flores C, Carracedo Á, Díaz-Peña R; Scourge Cohort Group (Llanos L, Almoguera B, Ayuso C, Corton M, Mínguez P, Mahillo-Fernández I, Zazo S, Rojo F, Gadea I, Sarah Heili-Frades,Sanchez-Pernaute O).
HLA. 2023 Dec;102(6):731-739.
PMID: 37528566
FI: 8
A second update on mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative (Ayuso C).
Nature. 2023 Sep.621(7977):E7-E26.
PMID: 37674002
FI: 64,8
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS, HEBON Investigators, Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY, GEMO Study Collaborators, De Fazio A, Bowtell D, AOCS Group, McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M, CZECANCA Consortium, Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K, Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium.
Br J Cancer. 2023 Jun.128(12):2283-2294.
PMID: 37076566
FI: 8,8
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.
Pairo-Castineira E, Rawlik K, Bretherick AD, Qi T, Wu Y, Nassiri I, McConkey GA, Zechner M, Klaric L, Griffiths F, Oosthuyzen W, Kousathanas A, Richmond A, Millar J, Russell CD, Malinauskas T, Thwaites R, Morrice K, Keating S, Maslove D, Nichol A, Semple MG, Knight J, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Begg C, Walsh T, Tenesa A, Flores C, Riancho JA, Rojas-Martinez A, Lapunzina P; GenOMICC Investigators; SCOURGE Consortium; ISARICC Investigators; 23andMe COVID-19 Team; Yang J, Ponting CP, Wilson JF, Vitart V, Abedalthagafi M, Luchessi AD, Parra EJ, Cruz R, Carracedo A, Fawkes A, Murphy L, Rowan K, Pereira AC, Law A, Fairfax B, Hendry SC, Baillie JK. (Llanos L, Ayuso C, Gadea I, Sarah Heili-Frades, Sanchez-Pernaute O).
Nature. 2023 May;617(7962):764-768.
PMID: 37198478
FI: 64,8
Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks.
de la Fuente L, Del Pozo-Valero M, Perea-Romero I, Blanco-Kelly F, Fernández-Caballero L, Cortón M, Ayuso C, Mínguez P.
Int J Mol Sci. 2023 Jan 14.24(2).
PMID: 36675175
FI: 5,6
Gender Perspective in the Genetics and Genomics Area
The Genetics and Genomics Area is made up of a group of professionals committed to respect and equality among its team members, which seeks to promote the professional development of all its personnel without discrimination based on gender or age.
Genetics and Genomics Area Future Goals
- Epidemiology and molecular basis of Rare and Complex Diseases: new gene/loci mechanisms and variants involved in genomic pathology in humans. Hidden genetic bases: Cancer. Cardiovascular disease and neurodegeneration; Hereditary Retinal Dystrophies, Intellectual Disability and Neurodevelopmental Disorders, and Ocular Malformations.
- Integration of basic (functional genomics and proteomics) and translational aspects: development, validation and harmonisation of diagnostic techniques, and discovery of new therapeutic targets.
- Intra-tumour heterogeneity and transcriptome alterations (including the role of non-coding genes, particularly long RNAs and circular RNAs as new sources of tumour biomarkers), characterising T-lymphoblastic neoplasms through the integration of genomic strategies (Exome Sequencing or WES and RNA Sequencing or RNA-Seq), to improve the diagnosis and prognosis of these diseases, and to select the most appropriate therapeutic strategies, in the context of current personalised and precision medicine.
- Research in therapies applicable to genetic diseases: PGx, pharmacological therapies and new therapies: gene therapy and gene editing (CRisPR/Cas9) and cell reprogramming in iPSC (cell culture, characterisation of lines and genetic monitoring).
- Translation: development of diagnostic algorithms, application of AI tools, protocols/clinical guidelines for RD and complex diseases:
- New experimental approaches and innovation. Single cell and mosaicism study; WGS of long sequences and optical genome. Validation of diagnostic kits for repeat expansion pathologies, new developments in DPNI and DGP-M /DG-A.
- Development and validation of bioinformatics tools and algorithms for reanalysis of undiagnosed cases, and analysis of new technologies and their translation to clinical practice.
- Validation of NGS procedures and cross-cutting processes of clinical genetic diagnosis (IC, report format, definition of panels and algorithms, WES application, ORPHA coding).
- Measurement of the scientific and social impact of our research activity.
- Harmonisation of regulatory and ethical aspects in the use of genomics and health data at the institute, at state and international levels.
Research Groups
- Genetics and Genomics of Rare and Complex Diseases
- Genetic Susceptibility to Rare and Complex Diseases
