Academic genetic expert witness practice
Profile and career

About Prof. Dr. med. Christian T. Thiel-Hirschmann

Academic human genetics with senior clinical leadership, proven translational research performance and decision-ready expertise for courts, insurers and legal professionals.

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Academic human genetics · clinical, translational, expert witness
Executive profile

Prof. Dr. med. Christian T. Thiel-Hirschmann, MBA

Board-certified specialist in human genetics, adjunct professor and senior consultant at the Institute of Human Genetics, University Hospital Erlangen. Since 2012 he has acted on behalf of the institute director in clinical, academic and strategic matters, combining diagnostics, patient care, bioinformatics and scientific translation in one profile.

His professional development is defined by more than 25 years of clinical genetics, the establishment and optimisation of diagnostic NGS structures, and research into rare disorders, growth disorders and skeletal dysplasias.

25+ years in clinical genetics senior consultant since 2012 adjunct professor since 2020 Executive MBA 2021
21,000+patient datasets analysed with NGSVA
2,500+confirmed molecular diagnoses
12,000+genetic consultations coordinated
1,000+personally conducted consultations
85original publications as of October 2025
34h-index
4,500+citations
€2.0m+competitive funding obtained as PI or collaborative investigator
Clinical and strategic role

Leadership and integration

His clinical work is closely integrated with paediatrics, oncology, gynaecology, cardiology and neurology. This includes contributions to multidisciplinary boards, the rare disease and personalised medicine centres, oncogenetic structures and the national genome sequencing model programme under §64e SGB V.

  • since 2012: Senior consultant, Institute of Human Genetics, University Hospital Erlangen
  • since 2009: Independent research group and principal investigator
  • since 2020: Adjunct professor of human genetics, FAU Erlangen-Nürnberg
  • since 2021: Executive MBA with focus on management and strategy
Bioinformatics and diagnostics

NGS, quality and process development

A core focus lies in the design, quality-assured implementation and continuous improvement of diagnostic genome workflows. This includes co-development of the NGSVA platform, now used across in-house diagnostics and clinical partner settings.

  • strategic contributor to the Core Unit NGS
  • co-development of the NGSVA platform for variant analysis
  • support for DAkkS accreditation and diagnostic quality KPIs
  • reduced turnaround times in prenatal and tumour diagnostics
Scientific profile

Translationally focused research

Research interests include functional genomics of growth disorders and ciliopathies, clinical variant interpretation and the translation of molecular insights into diagnostic and expert-reporting conclusions that remain robust under scrutiny.

Work has appeared in journals including Science, The Lancet, American Journal of Human Genetics, Genetics in Medicine and Nature Cell Biology.

Teaching and mentoring

Long-standing academic responsibility

  • regular teaching across medicine, molecular medicine and biology
  • development of case-based key feature examinations for the national licensing exam
  • supervision of doctoral, master’s and residency projects
  • member of the GfH Academy of Human Genetics commission
Professional service

National visibility

  • member of the national guideline commission for genetic diagnostics
  • DFG reviewer and referee for international journals
  • editorial board and advisory board activities
  • active participation in expert boards and referral structures
Why this matters to instructing parties

Expert reporting value grounded in clinical depth and scientific range

For courts and insurers, the decisive question is rarely the mere existence of a genetic finding. What matters is whether the finding can be interpreted reliably within its clinical, methodological and prognostic context. That is precisely where a university-based human geneticist with translational research, diagnostic process responsibility and long-standing clinical experience adds value.

Typical strengths

  • clear separation of findings, evidence and conclusion
  • robust interpretation of rare variants and genotype-phenotype correlations
  • language suitable for courts, insurers and legal professionals

Typical subject areas

  • rare genetic disorders
  • growth disorders and skeletal dysplasias
  • exome and genome findings, causality and prognosis
Anchored in academic medicine, research and international visibility.
Instruction

Commission specialised human genetics expertise directly

A short preliminary review of the available records can be used to define scope, timing and documentation requirements before formal instruction.