Clinical Biochemical Genetics Fellowship

Gen Bio

Program Overview

The 2-year Clinical biochemical genetics (CBG) program at the University of Colorado is ACGME accredited and offers specialized postdoctoral training leading to board-eligibility in the clinical biochemical genetics specialty. Fellows will gain experience with routine assays used in biochemical genetics such as amino acid analysis, organic acid analysis, acylcarnitine analysis as well as the measurement of several key metabolites such as methylmalonic acid and glutaric acid. Fellows will work closely with the inborn errors of metabolism clinical team and interact with the Colorado newborn screening follow up team. Fellows will be trained to perform as a genetics laboratory director proficient in the interpretation of biochemical genetic testing relevant to the diagnosis and management of patients with inborn errors of metabolism.  Additionally, fellows will gain experience in the regulatory guidelines that govern a clinical diagnostics laboratory. Fellows will be involved in clinical test development from assay design to implementation in the electronic health record. This training is open to MD, DO, and PhD applicants from fields related to genetics. There is 1 position available per year.

Program Aims

1. Prepare CBG Fellows for a successful career in the practice of clinical biochemical genetics 
2. Practice collaborative, interdisciplinary patient care in clinical biochemical genetics.
3. Develop and maintain knowledge of current clinical laboratory genetics practice guidelines and applicable clinical laboratory regulations to become excellent in the practice of clinical laboratory medicine.

Overview

Fellows are based in the clinical biochemical genetics laboratory in the Children's Hospital of Colorado on the CU Anschutz campus. Analyses presently offered include amino acid analysis, organic acid analysis, acylcarnitine analysis as well as specific quantitation of succinylacetone, glutaric, 3-hydroxyglutaric, orotic, and methylmalonic acids.  Fellows are also exposed to enzyme assays for very long-chain acyl-CoA dehydrogenase and glutaryl-CoA dehydrogenase. Fellows will gain experience with liquid chromatography tandem mass spectrometry, gas chromatography mass spectrometry, and ion exchange chromatography. 
Beyond analytical techniques, fellows evaluate quality control practices within the clinical laboratory including the relevant checklists for accreditation for the College of American Pathologists. Fellows will be encouraged to design and implement a novel assay including SOP development.
The residents have a 6-week laboratory rotation which includes time in the cytogenetics and molecular genetics laboratories. 
Cytogenetics Lab:
This lab is a full-service state of the art clinical cytogenetics, molecular genetics, education and research laboratory. With a rich history as a leader, early milestones included automated karyotyping (1986), clinical fluorescent in situ hybridization (FISH, 1991), and comparative genomic hybridization (CGH, 1992) in addition to standard cytogenetic testing. Clinical sample volume approaches 12,000 samples/year of postnatal, prenatal, and cancer including paraffin embedded samples. Rapidly expanding chromosomal microarray (CMA) genomic testing has been offered clinically since 2006, with a high density CMA/SNP array since 2014.

Molecular Lab:

This lab has become a worldwide referral center for molecular testing for inborn errors of metabolism, pigmentation disorders, and diseases of the eye in addition to offering testing for common disorders such as the Fragile X syndrome, cystic fibrosis and thrombophilia. The lab currently processes approximately 3500 samples per year and offers testing for over 150 genes. It serves as a core center for isolation of DNA from blood and other tissues for many projects on the Anschutz Medical Campus, including the CTSI. Advanced molecular testing, such as duplication/deletion chips and exome sequencing, are in development.

Overview

Fellows are required to attend at least two half-day clinics per month.  General metabolic and general genetics clinics are the main focus for CBG fellows; however fellows can also attend the following specialty clinics: lysosomal, mitochondrial, PKU, galactosemia, skeletal dysplasia, neurogenetics, autism, Prader Willi, Angelman, 22q, neurofibromatosis, ocular genetics, vascular malformations. neuromuscular clinic, Down syndrome clinic, fragile X clinic, hearing loss clinic, and craniofacial clinic.

Fellows attend weekly inborn errors of metabolism clinical conferences and monthly genetics case reviews.

Additionally fellows attend variant interpretation conferences, genetics journal club and a radiology conference. 

CU is fortunate to have a diverse , robust clinical genetics team. CBG fellows work closely with residents and other genetics fellows, attending physicians, genetic counselors, nurses and dieticians to provide excellent patient care. 

Didactic Lectures

We offer several didactic courses to trainees, including:

  • MBG Core Clinical Seminar Series (launched in 2020, this online conference spans several months & includes experts in the field across the US)
  • Molecular Genetics and Cytogenetics
  • Survey in Human Genetics (offered through the Human Medical Genetics Program)
  • Biochemical Genetics
  • Risk Assessment
  • Cancer Genetics

The classes are coordinated through the graduate genetic counseling program except where noted above. Further, the Department of Pediatrics offers an evening fellows lecture series to which the medical genetics residents are invited and encouraged to attend.

Conferences

Residents participate in the following education conferences:

  • Basic science research presentations
  • Metabolic patient care meeting 
  • Laboratory Rounds 
  • Pediatric Grand Rounds
  • Genetics Journal Club 
  • Genetics Grand Rounds 
  • Variant interpretation conference 
  • Clinical research update meetings
  • Morbidity and Mortality Conference 
  • Radiology Rounds
  • Lunch and Learn Meetings

Other Opportunities:

  • QI/QC Workshop and training
  • Resilience training
  • Resident and fellow retreats/workshops through GME
  • Metabolic University
  • Mountain States Regional Genetics Network Meeting
  • North American Metabolic Academy (NAMA)

Other Scholarly Activities

The fellow is encouraged to participate in scholarly activities throughout the 2 years of the program.  Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged.

Accreditation

The Laboratory Genetics and Genomics fellowship is accredited by the Accreditation Council for Graduate Medical Education (ACGME).

Certification

Upon satisfactory completion of the program requirements, fellows may apply to the American Board of Medical Genetics and Genomics (ABMGG) to take the certification examination in LGG.

Overview

The University of Colorado’s School of Medicine, the Children’s Hospital Colorado, and the Heart Institute believe that diversity is a value that is central to their educational, research, service and health care missions. We are committed to working towards equity and justice for all. With this goal in mind, the Heart Institute created a Diversity, Health Equity, and Inclusion workface that includes over 40 members and represents every discipline within the H.I. including fellows, faculty, nursing, pharmacy, and research staff. The workforce has 7 subcommittees, including:

  • DHEI data focused on patient outcome reporting/transparency and equitable research
  • DHEI Quality Improvement
  • DHEI awareness and education
  • Underrepresented minority faculty, fellow, and staff recruitment and retention
  • DHEI Family Advisory Council
  • Community engagement, outreach, and legislative action
  • University of Colorado-School of Medicine and Children’s Hospital Colorado liaison and dissemination of information

    The vision of the Heart Institute DHEI Taskwork is as follows:

    1. To create actionable changes that will reduce health outcome disparities and remove barriers to equitable care
    2. To build a workforce representative of the community we serve
    3. The ensure a diverse, equitable, and inclusive approach to H.I. research
    4. To provide education and training to our division aimed at increasing cultural competency and awareness of health disparities in the congenital and acquired heart disease population
    5. To celebrate diversity and promote an inclusive environment for patients, their families, and team members with the H.I.

Diversity in Denver

Training at the University of Colorado provides the opportunity to care for an incredibly diverse population of patients and families. As the regional referral center for the Mountain West, Children’s Hospital Colorado and the Heart Institute regularly serves children from urban and rural areas in multiple states including Colorado, Wyoming, Montana, New Mexico, Nebraska, Kansas, and North and South Dakota.

The Denver Metro Area is home to a diverse and vibrant array of people from all racial, ethnic, socioeconomic, religious, and cultural backgrounds. Denver is one of the fastest-growing cities in the United States with a city population of over 700,000 and over 3 million in the metropolitan area. Approximately 1 in 6 Denver residents was born in a country other than the United States and over 40% of children in Denver speak a language other than English at home. The population of Denver is approximately 1% Native American, 5% Asian, 12% Black, 50% non-Hispanic White, and 32% Hispanic/Latinx. In the three-zip-code region surrounding the Children’s Hospital Colorado, 77% of residents belong to racial and ethnic minorities. In addition, Denver ranks among the top 10 cities in the United States for the highest proportion of residents who identify as LGBT.

University of Colorado and Children’s Hospital Colorado DEI Resources:

The CU Anschutz LGBTQ+ Hub

Repurposes the Women and Gender Center formerly at CU Anschutz.  On this website you will find information about services and resources provided by the LGBTQ+ Hub.

You can also visit us in our physical space (shared with the Oasis Space) Mondays, Wednesdays, and Fridays, located on the second floor of the Education 2 North Building, room 2101.

Here is the website link: https://www.cuanschutz.edu/offices/diversity-equity-inclusion-community/programs-and-initiatives/lgbtq-hub

The Application Process

Our fellowship will be conducting virtual interviews for this upcoming interview season. We will be interviewing to fill one fellowship spot for the 2024 academic year. We look forward to sharing our programs with you and getting to know more about you. We will send interview offers out in Mid-September and conduct interviews in October and November.

If you have questions about the application process, please feel free to reach out to our program coordinator! (Sara Higsley: sara.higsley@cuanschutz.edu)

The program cannot provide H-1B visa sponsorship. J-1 visa sponsorship is not available to non-physicians due to ECFMG/Intealth policies

Materials for Application:

1. Email the following to the Program Director and Program Coordinator:

  • A personal statement (up to 1 page) describing your motivation for training and future career goals
  • CV outlining your education, clinical and research interests, and publications
  • USMLE scores
  • If applicable, candidates should submit evidence that they have applied for the ABMGG foreign credentials review

2. Provide 3 original letters of reference

  • One should be from your most recent Program Director
  • All should be emailed directly from the author to the Program Director and Program Coordinator

Timothy Wood, PhD
Program Director
Associate Professor
Director of Biochemical Genetics Laboratory
University of Colorado Anschutz Medical Campus timothy.wood@childrenscolorado.org

Sara Higsley
Program Coordinator
University of Colorado Anschutz sara.higsley@cuanschutz.edu

 

Salary and Benefits

The University of Colorado offers salary and benefits packages that are competitive with other fellowship programs across the country. Current salary levels can be found at the School of Medicine - Graduate Medical Education Stipends.

Denver

The Mile High City is nestled at the eastern base of the Rocky Mountains and is the largest city in the region with a population of over 2.7 million. Denver enjoys one of the best climates in the country, with 300 days/year of sunny skies. Although it snows in the winter, the snow melts quickly and temperatures are usually moderate. Hot summer days give way to cool summer evenings. The city is the home to dozens of highly rated restaurants and a vibrant nightlife. The city attracts many outdoor enthusiasts with its extensive system of hiking and bike trails and the largest city park system in the country. The Denver Center for the Performing Arts is the largest performing arts complex under one roof in the country and attracts many of the top national theater tours each year. Red Rocks Amphitheater, a natural amphitheater in the foothills west of town, attracts the nation’s top touring musical talent throughout the summer.

Denver is home to the Denver Broncos (NFL), the Denver Nuggets (NBA), the Colorado Rockies (MLB), the Colorado Avalanche (NHL), the Colorado Rapids (MLS) and the Colorado Outlaws (MLL). The University of Colorado, the state flagship school and a world-class educational institution, is based in nearby Boulder. In addition, Denver is the gateway to the Rocky Mountains, which offer abundant recreational and sightseeing opportunities year round. The state of Colorado is home to over 20 major ski areas, many of which are within 2 hours of the city.

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