The Mark and
Kathie Miller
Genomics
Fund is ending years of diagnostic questioning and uncertainty for families across the Mountain West.
It’s hard to overstate how transformational the Neo/ReSeq and Penelope Programs are for diagnosis and care in the NICU and for children and their families’ lives.
In 10 years, people will look back and realize that this is when it all shifted. This is the moment we stepped over the line in the sand into a new era.
Your philanthropy provides families with answers at critical and emotional times, advances research, and models a system for other medical centers.
Before the Neo/ReSeq and Penelope Programs, there were few, if any, options to help diagnose newborns and children with rare, genetic-related diseases. Since the advent of affordable whole genome sequencing, the inception of the programs, and your support, University of Utah Health has served critically ill children through a collaborative and cutting-edge approach. Your investment is changing the landscape of genomic medicine at the University of Utah and beyond. Because of you, the Neo/ReSeq and Penelope Programs continue to enable new collaboration pathways across a spectrum of medical science and care. Your partnership allows for a broad impact through world-class education and training for the next generation of investigators and medical professionals.
PENELOPE PROGRAM CHANGEMAKERS
Lorenzo Botto, MD
Dr. Botto is a professor of pediatrics at the University of Utah Spencer Fox Eccles School of Medicine. He trained in pediatrics, pediatric cardiology, and medical genetics in Europe and the United States. He is also a medical epidemiologist who trained and practiced at the US Centers for Disease Control and Prevention (Epidemic Intelligence Service, Preventive Medicine Program) for over a decade. Dr. Botto directs the Penelope Undiagnosed Disease Program, meeting families and overseeing the team activities, and is the principal investigator for the Intermountain West site of the Undiagnosed Disease Network.
Erin Baldwin, MS, LCGC
Erin Baldwin is a certified and licensed genetic counselor in the Department of Pediatrics at the University of Utah. She has a background in clinical and research genetic counseling in pediatric, adult, and laboratory medicine. Erin is a study coordinator for the Penelope Undiagnosed Program and the NIH-sponsored Undiagnosed Disease Network, working with patients with complex, undiagnosed genetic conditions. In this role, Erin is the first point of contact for patients with undiagnosed conditions. She gathers essential medical information, coordinates testing, communicates research updates, and provides genetic information and support to patients, families, and providers.
Ashley Andrews, MSN, CPNP
Ashley Andrews is a pediatric nurse practitioner board-certified by the Pediatric Nursing Certification Board. She has a bachelor’s degree in health sciences with a concentration in disease prevention and health promotion. She completed a bachelors’ and master’s degree in nursing from California State University Long Beach and is completing her doctorate in nursing practice from the University of Utah. She is experienced in a wide range of inborn errors of metabolism. She is particularly engaged in the concept of transitioning to self-care and works to include children in the management of their chronic condition from an early age. Ashley is also a study coordinator for the Penelope Undiagnosed Disease Program and the NIH-sponsored Undiagnosed Disease Network. In this role, she is a major point of contact for patients with undiagnosed conditions. She gathers essential medical information, coordinates testing, communicates research updates, and provides genetic information and support to patients, families, and providers.
NEO/RESEQ PROGRAM CHANGEMAKERS
Sabrina Malone-Jenkins, MD
Dr. Malone-Jenkins is a physician-scientist and associate professor of pediatrics in the Division of Neonatology, the director of Rapid Genomics at Primary Children’s Hospital, and the principal investigator of the Utah Neo/ReSeq Program. Dr. Malone-Jenkins cares for critically ill infants in the Primary Children’s Medical Center, University Hospital, and Intermountain Medical Center NICUs. Her interests include integrating rapid genomic technologies into the standard of care for critically ill newborns through personalized medicine and the dissemination and implementation of scientific approaches. To ensure genomic testing is accessible to all, she is leading the implementation of rapid whole genome sequencing in Level III NICUs throughout Utah.
Dr. Malone-Jenkins, as the principal investigator for Neo/ReSeq, plays a crucial role in advancing genetic diagnosis and patient care. Her responsibilities encompass a wide range of activities vital to the research program’s success including consenting families, providing clinical summaries and phenotypic descriptions use for analysis, determining clinical relevance and finalizing results letters for families and their medical teams. Her management of the multidisciplinary team and commitment to refining the project process reflect her dedication to improving patient care. Among her various duties, Dr. Malone-Jenkins finds the most satisfaction in connecting with families and delivering critical information that can significantly impact their lives.
Brian Shayota, MD, MPH
Dr. Shayota is an assistant professor of pediatrics and medical genetics at University Hospital and Primary Children’s Hospital. He is also the Director of Metabolic Services, Director of Telegenetics Consultation Services (offered to Level III NICUs throughout Utah), and director of the ReSeq Clinic.
Dr. Shayota’s career has focused on caring for patients with rare inborn errors of metabolism and discovering new/rare genetic conditions. He is particularly interested in identifying new therapeutic approaches to rare genetic disorders. He also serves as the primary investigator on several clinical trials using novel treatments such as gene therapy in humans. As the lead geneticist in the Neo/ReSeq Program, he is also actively involved in identifying ultra-rare causes of genetic disorders in patients where traditional genetic testing methods have failed.
Dr. Shayota is passionate about expanding access to genetic services in rural communities and creating innovative public health programs prioritizing patients’ and families’ interests. This includes serving as the primary metabolic specialist responsible for reviewing newborn screening results for Utah, Nevada, and Alaska.
Rachel Palmquist, MS, CGC
Rachel Palmquist is a genetic counselor and assistant professor of pediatrics at the University of Utah, where she provides genetic counseling services for pediatric neurology and inpatient units. Through the Primary Children’s Center for Personalized Medicine, she has supported the development and management of genetic counseling services for the rapid genome sequencing program at Primary Children’s Hospital and the Neo/ReSeq Program. Her research with Neo/ReSeq focuses on understanding the barriers to and impact of decreased time to diagnosis in the inpatient and outpatient settings and evaluating clinical models for supporting the integration of genetic services across pediatrics.
Chelsea Solorzano, BSN, RN
Chelsea Solorzano is a registered nurse and research nurse coordinator in the Department of Pediatrics at the University of Utah. In her role as lead coordinator for Neo/ReSeq programs, she is responsible for running day-to-day operations which includes enrolling and communicating with families, scouring medical records for useful information, connecting research analysts with the clinical team, participating in financial planning, and following up on all current and past cases. Her passion is building connections with families, and she is grateful to have that opportunity every day.
SEEKING ANSWERS:
RESEQ PROJECT DOESN’T GIVE UP ON FINDING A DIAGNOSIS FOR CRITICALLY ILL KIDS BY SOPHIA FRIESEN FEBRUARY 22, 2024
BEACON OF HOPE BY STEPHEN DARK FEBRUARY 29, 2024
UTAHMED MAGAZINE SEEKING HOPE BY AUTUMN THATCHER SPRING 2024
VITAE 2024
UNRAVELING THE MYSTERY: EXPLORING THE IMPACT OF RAPID WHOLE GENOME SEQUENCING IN THE NICU SABRINA MALONE-JENKINS, MD