Medical Genetics & Genomics Residency Program

Overview

The residents have a 6 week laboratory rotation which includes 2 weeks each in the cytogenetics laboratory, molecular genetics laboratory, and biochemical genetics laboratory.

The goal of these rotations is for the residents to:

• Learn what techniques are used for the diagnostic tests and what specimen is appropriate for each test
• Learn the interpretation of the results in regard to its clinical significance and to learn what other tests are indicated to clarify any ambiguity or further define an abnormality
• Become aware of the regulations and guidelines under which a laboratory is required to operate
• Become proficient at reporting laboratory results back to the ordering care providers
• Become familiar with laboratory workflow and administration
  

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 process 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.

Biochemical Genetics Lab:

This lab focuses on procedures relevant to the diagnosis and management of amino and organic acidemias and disorders of fatty acid oxidation. Analyses presently offered include amino acid screening and quantitation; organic acid screening; quantitation of succinylacetone and glutaric, 3-hydroxyglutaric, orotic, methylmalonic, and N-acetyl aspartic acids by stable isotope dilution gc-ms; screening and qualitative analysis of mucopolysaccharides; profiling of acylcarnitines by tandem mass spectrometry; and enzyme assays for very long-chain acyl-CoA dehydrogenase, glutaryl-CoA dehydrogenase, electron transfer flavoprotein (ETF), and ETF-ubiquinone oxidoreductase. The laboratory has been CAP accredited for over twenty years.

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

 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

In addition to the formal research rotation, the residents are encouraged to participate in scholarly activities throughout the 2 years of residency.  Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged. 

Diversity, Equity, and Inclusion

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:

  • To create actionable changes that will reduce health outcome disparities and remove barriers to equitable care
  • To build a workforce representative of the community we serve
  • The ensure a diverse, equitable, and inclusive approach to H.I. research
  • 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
  • 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:

• University of Colorado Anschutz Medical Campus Central Office of Diversity, Equity, Inclusion, and Community Engagement

  Diversity, Equity, and Inclusion - Department of Pediatrics

• Pediatric Residency Program – Diversity and Inclusion
• Diversity in Pediatrics Committee
• Minority and Allied Resident Council (MARC)

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.

Current Residents

Paige Souder, MD, PhD

Hometown: Paducah, KY 
Medical School: University of Alabama at Birmingham 
Research Interest(s): Altered myelination in neurometabolic disorders, zebrafish models of genetic/metabolic disorders, biomarkers of metabolic disorders 
Other Interest(s): Video games, my dogs, baseball, hiking

Maxwell Summerlin, MD

Hometown: Silver Spring, MD 
Medical School: George Washington University 
Research Interest(s): Medical education, clinical trial research 
Other Interest(s): Staying active, hosting on AirBnB, innovative ideas, Training coconut

Warren Stopek, MD 

Hometown: Washington D.C. 
Medical School: Touro University California College of Osteopathic Medicine 
Research Interest(s): Evaluating state-by-state inclusion and exclusion criteria for rapid whole genome sequencing, characterizing course of illness in rare disease processes. 
Other Interest(s): Outside of clinical and research responsibilities, I try and weave activities into my every day lifestyle that contribute to my mental wellbeing - walking or hiking with our dog Scoops, exercising, listening to, or occasionally playing music. When I have chances to travel internationally, I try and take advantage. My wife and I have recently become a bit obsessed with visiting Scotland for a couple summer weeks. I have been fortunate enough to explore some countries in Europe, Asia, and South America. I enjoy engaging in live events: attending concerts, stand-up comedy shows, football or basketball games.  It's usually refreshing to see my coworker friends outside of the hospital community to catch a different side of them.

Victoria Martucci, MD, PhD 

Hometown: Hamden, CT 
Medical School: Vanderbilt 
Research Interest(s): electronic health record/biobank research 
Other Interest(s): hanging out with my partner and our cats, playing board games, knitting/crochet

Brady Slater, MD

Hometown: Prineville, OR 
Medical School: Baylor College of Medicine 
Research Interest(s): Pharmacogenomics, Medical Education 
Other Interest(s): Pickleball, Cycling, Trail running, Nuclear Physics

Daelyn Richards, MD, PhD

Hometown: Portland, Oregon 
Medical School: Washington State University 
Research Interest(s): Gene therapy, Metabolic disorders, AI in medicine, flok.org 
Other Interest(s): Running/triathlons, Exploring the mountains, Dogs (especially Labs), Salty ice cream (is this a Colorado thing?), Flok Family Camp (fun times with my community!), Rockies games, visiting nice zoos (Denver zoo and Cheyenne Mtn Zoo are phenomenal!)

Gabrielle Segal, MD

Hometown: Flower Mound, Tx 
Medical School: University of Texas Medical Branch 
Research interests: clinical trials, developmental pediatrics 
Other interests: skiing and cycling!

Maria Aleja Gonzalez Rodriguez, MD

Hometown: Bogotá, Colombia   
Medical School: Universidad del Rosario 
Research Interest(s): Hereditary tumor syndromes, Inherited Metabolic Diseases 
Other Interest(s): Running, Photography, Dancing

Colin Mowery, MD

Hometown: Tuttle, Oklahoma 
Medical School: University of Oklahoma College 
Research Interest: Mitochondrial function & Aging. Genetics of autoimmune disease.   
Interest/Hobbies: Camping, Hiking, Karaoke, Gym, Getting a sweet lil' treat, Playing Magic: the Gathering with the boys, Hot girl walks, Arcade bars, Watching OKC Thunder, Leaving Restaurant Yelp Reviews

All applications are received through ERAS

The Application Process

Our pediatric fellowships will be conducting virtual interviews for this upcoming interview season.  We will be interviewing to fill two combined residency spots 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 early-October as well as a list of interview dates in October, November, and early December.

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

We particularly hope to attract applicants who are motivated and self-directed learners who want to develop academic careers based on excellence in research, scholarship, and clinical pediatric genetics. The Medical Genetics and Genomics Program utilizes ERAS -  Electronic Residency Application Service (ERAS).

We participate in the National Residency Matching Program (NRMP)  and do not offer any positions outside of the match. The application should include a copy of your curriculum vitae, at least 3 letters of reference (maximal of 4), a personal statement highlighting why you wish to become a pediatric cardiologist, and your USMLE or COMLEX score reports. If you are not a US citizen, include a copy of your ECFMG report with ERAS. Please bear in mind that you would need to acquire a J1 visa if selected as a candidate for our program. Incomplete or late applications will not be considered. It is your responsibility to ensure all required information has been received.

ERAS Application Timeline

NRMP Main Residency Match Timeline

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.

Virtual Interviews

In accordance with the University of Colorado Anschutz Medical Campus, we will be conducting our 2024 interviews virtually over zoom. We are so excited to meet you (virtually!) and help you get to know our program. Below you will find the schedule for your interview day. We will be holding our interviews on Mondays and Tuesdays in October, November, and December.

Additional Questions

Please contact with questions:

Sara Higsley, Fellowship Program Coordinator: sara.higsley@cuanschutz.edu 

Austin Larson, MD, Program Director: austin.larson@childrenscolorado.org

Aaina Kochhar, MD, Associate Program Director: aaina.kochhar@childrenscolorado.org