Renal Genetics Fellowship
About the Program
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Quick Facts
- Duration of the program is 12 months; 75% time in a variety of genetics focused ambulatory care clinics with 25% time for scholarly activities
- Rotations include: Renal Genetics Clinic, C3G and Complement Clinic, Polycystic Kidney Disease Clinic, Complex Kidney Stone Clinic, Pediatric Urology Clinic, Kidney transplant clinic, Living Donor Evaluation Clinic
- The fellow will have a longitudinal ambulatory care clinic and serve as a consultant for patients with genetic renal disease throughout UI Health Care and Stead Family Children's Hospital.
- The fellow will attend and present at the genetics journal club and in the renal and transplant conferences.
- University of Iowa has a tradition of clinical excellence and outstanding research in nephrology and has a well-established laboratory for evaluation of complement mediated diseases (MORL) and was the first clinical lab with a comprehensive renal gene panel (Kidneyseq).
- The University of Iowa is recognized as a Center of Excellence by the aHUS Foundation, the Polycystic Kidney Disease Foundation, the Tuberous Sclerosis Complex Alliance and the National Organization for Rare Diseases (NORD).
- Following completion of the training program the fellow will have a broad knowledge base in methods of genetic screening/testing, principles of disease inheritance, fundamentals of clinical genetics, the essentials of genetic counseling, role of pharmacogenetics in drug prescription, dosing and monitoring, the use of genotype-phenotype correlations, the approach to cascade testing, and the nuances of a variant-focused precision approach to patient management in general nephrology and in transplant nephrology.
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Fellows as Clinician Educators Program (FACE)
For future clinician-educators.
Internal Medicine Fellows' Conference
Common curriculum for fellows in all divisions of the Department.
Curriculum and Objectives
- Obtain experience in evaluating patients suspected of any genetic renal diseases conforming to one of many broad phenotypes: glomerular diseases, tubulo-interstitial diseases, cystic kidney diseases, disorders of tubular transport, and congenital anomalies of kidney and urinary tract development.
- Obtain experience in the evaluation of potential living kidney donors biologically related to their kidney transplant recipients to assess for pre-symptomatic genetic kidney disease. Understand the role of genetic screening to evaluate transplant recipients and their related kidney donors for known or unrecognized genetic diseases and for the identification of disease susceptibility genes (e.g., APOL1 risk alleles)
- Discuss the principles of genetic testing methods, the interpretation of genetic test results, and the application of genetic test results to clinical practice.
- Understand the principles of HLA typing, short tandem repeat screening for identifying HLA disparate and HLA identical recipient and donor pairs and for confirmation of identical twinship, and the role of HLA in disease susceptibility.
- Understand the relevance of pharmacogenetic screening to identify optimal immunosuppressive agents for renal and post renal transplant management (e.g., CYP3A5 genotyping for tacrolimus drug dosing).
- Describe the principles of clinical genetics, the mechanisms of genetic disease, the use of genotype-phenotype correlations, and variant-focused tailored approach to therapy and precision care.
The specific topics covered will include:
- Basics of molecular biology: DNA, RNA, transcription, translation
- Genome and variants: common, rare, coding, non-coding, haplotypes, linkage disequilibrium
- Mendel’s laws and concepts in genetics – pedigrees, monogenic, digenic and polygenic diseases
- Concepts in genetics: locus heterogeneity, allelic disorders, mosaicism, penetrance, expressivity, phenocopy, pleiotropy, disomy
- Methods of genetic screening/testing: Sanger, NGS, MLPA, CMA, FISH, karyotyping, OGM
- Role of exome and genome sequencing
- Big genomic data – GWAS, polygenic risk scores
- Pharmacogenetics
- Gene therapy
- Genetics of aHUS and C3G
- Genetics of the ciliopathies
- Genetics of FSGS/SRNS
- Genetics of tubulointerstitial diseases
- Genetic disorders of tubular transport
- Congenital anomalies of the kidney and urinary tract
- Syndromes and non-syndromic presentations with renal involvement
- Genetic variant focused disease management
- Ethical and social issues in genetics including direct-to-consumer genetic testing.
- Principles of risk communication including incidental findings, misattributed paternity
- Current and future challenges in genetic medicine including preimplantation genetic screening and germline gene editing.