Charis Eng: an appreciation
Notice bibliographique
Résumé
was a distinguished clinician-scientist whose contributions in research, clinical care and medical education were wide-ranging and highly influential.She held editorial roles, including North American Editor of the Journal of Medical Genetics and Editor-in-Chief of Endocrine-Related Cancer and Human Molecular Genetics.She coauthored many scientific papers and monographs including the third and fourth editions of A Practical Guide to Human Cancer Genetics. 1 Her contribution to cancer genetics has been described in detail elsewhere, 2 3 but in this appreciation, as former coeditors on JMG, coauthors 1 and colleagues we reflect on her legacy.Born in Singapore and later moving to the USA via England, Charis was academically gifted, and she was admitted to the University of Chicago aged just 16 years.She attributed her interest in genetics to the influence of her high school biology teacher.After completing her residency in internal medicine at Beth Israel Hospital in Boston and a fellowship in medical oncology at Harvard's Dana-Farber Cancer Institute, she returned to England to undertake a Fellowship in cancer genetics at the University of Cambridge under the mentorship of Professor Sir Bruce Ponder.There, she helped identify germline mutations in RET in multiple endocrine neoplasia type 2 and made key contributions to understanding genotype-phenotype correlations in the disorder.[4][5][6] She maintained a lifelong interest in the clinical and molecular features of inherited predisposition to endocrine tumours, particularly phaeochromocytoma/paraganglioma, however, her greatest impact was in the field of PTEN hamartoma tumour syndrome (PHTS).After coleading the research that linked germline PTEN pathogenic variants to Cowden syndrome, 7 she proceeded to demonstrate that several related conditions such as Bannayan-Riley-Ruvalcaba syndrome, a Proteus-like overgrowth disorder and most notably, a subset of individuals with autism spectrum disorders and macrocephaly, were allelic. [8][9]][10] She also defined the role of somatic inactivation of PTEN in sporadic tumours including thyroid 11 and explored the effects of PTEN inactivation in dysregulating the phosphoinositol-3-kinase/Akt and other signalling pathways.Charis' work advanced both laboratory research and clinical management of PHTS, leading to improved diagnostic criteria, tumour surveillance guidelines and the development of the Cleveland Clinic PTEN Risk Calculator 12 ; (https://www.lerner.ccf.org/genomic-medicine/ccscore/).For the worldwide cancer genetics community, she was the go-to person for difficult cases.After Cambridge, Charis held positions at the Dana-Farber Cancer Institute and Ohio State University before she was invited to become the founding director of the Genomic Medicine Institute and the Center for Personalized Genetic Healthcare at the Cleveland Clinic, USA.Her bench to bedside translational research, commitment to precision medicine and her vision for transforming clinical care in inherited cancer predisposition syndromes earned her numerous honours, including election to the National Academy of Medicine (2010) and the American Cancer Society's Medal of Honor for Clinical Research (2018).Renowned for her mentorship, Charis supported many trainees and mentees, encouraging them to mentor both upwards and among their peers.She fostered a collaborative multidisciplinary environment, and recognising the need to build capacity and
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,002 | 0,005 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,001 | 0,001 |
| Études des sciences et des technologies | 0,001 | 0,001 |
| Communication savante | 0,003 | 0,001 |
| Science ouverte | 0,001 | 0,003 |
| Intégrité de la recherche | 0,002 | 0,004 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,304 | 0,126 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».