Newborn Screening Jobs (NOW HIRING)

The Opportunity

The Department of Pediatrics at the University of Texas Southwestern Medical Center (UT Southwestern) is

conducting a national/international search for the next Chief for the Division of Pediatric Genetics and Metabolism. UT

Southwestern is a leader in genetics research and the treatment of genetic disorders. Reporting to the Chair of the

Department of Pediatrics, the Chief of Pediatric Genetics and Metabolism will be charged with delivering state-of-theart

consultation, evaluation, counseling and clinical care to children with inherited diseases as well as known or

suspected genetic conditions at Children's Medical Centers of Dallas and Plano and in partnership with the NICUs at

UT Southwestern affiliated hospitals. The Chief will also be responsible for developing, scaling, and innovating the

Division's research and education programs. The successful candidate will have the opportunity to envision and

realize the future growth of an outstanding Pediatric Genetics and Metabolism program, within the vibrant and growing

UT Southwestern Medical Center and Children's Health, both routinely considered among the nation's finest.

Our Client

The Division of Pediatric Genetics and Metabolism

The mission of the UT Southwestern Pediatric Genetics and Metabolism Division is to provide excellent evaluation,

diagnosis and treatment of children with genetic disorders, including birth defects, malformation syndromes,

genetically defined developmental delays, and inborn errors of metabolism, while advancing the field through research

and innovation, as well as enhancing the education of future physicians.

The Division has six full-time faculty members who play a pivotal role in advancing the Division's clinical and scholarly

programs focused on a wide variety of genetic conditions such as inborn errors of metabolism, newborn screening,

lysosomal storage disorders, craniofacial malformation syndromes, and incontinentia pigmenti. Faculty provide consult

services and outpatient care at Children's Health and support the NICUs at Parkland Health and University Hospital.

Patient Care

With a large and growing team of physicians, genetic counselors, nurse practitioners, dieticians, and social workers,

the Division is a major regional resource for children and families with genetic diseases. The team evaluates more

than 250 patients each month with known or suspected genetic diseases. Particular strengths of the clinical program

include:

The largest regional practice specializing in the diagnosis and treatment of children with inborn errors of

metabolism

24/7 coverage for patients, with an M.D. Medical Geneticist on call at all times

Several clinics specializing in malformation syndromes and genetic forms of developmental delay

Expertise in the use and interpretation of advanced genetic diagnostics, including tests involving next

generation sequencing

The only clinic in Dallas, and currently the only one in North Texas, that accepts referrals from the Texas

Department of Health's newborn screening program for biochemical disorders

Participation in multidisciplinary clinics specializing in relatively common disorders such as Down syndrome and

22q11.2 deletion syndrome

Clinical activities of the Division are focused in the following areas:

Metabolic Disease Clinic - The Metabolic Disease Clinic provides evaluation and testing for children with known

or suspected inborn errors of metabolism (IEMs). UT Southwestern/Children's Health is a regional center of

excellence in these diseases, establishing the diagnosis in affected children, counseling and educating their

families about these conditions, and optimizing therapy tailored to the needs of each child. Blood, urine,

enzyme, and DNA analyses are performed for diagnosis. Patients with a confirmed diagnosis are then provided

with nutritional evaluation, genetic counseling, and psychosocial assessment as well as long-term care.

The Metabolic Disease Clinic is closely associated with the Newborn Screening Clinic; the Division is a major

referral center for the Texas Newborn Screening Program. This statewide program seeks to identify newborn

babies with any of 30 different treatable diseases, many of which are genetic/metabolic in nature.

Genetics/Dysmorphology Clinic - Children with conditions involving birth defects, developmental delay or

developmental disabilities, or other known or suspected genetic disorders receive evaluation and testing in the

Genetics/Dysmorphology Clinic. Chromosomal and DNA analysis for diagnosis of genetic disease is provided,

as well as psychosocial assessment, counseling, and comprehensive case management with referral to

medical specialists, community resources, and support groups. Family history analysis and risk counseling to

discuss reproductive options also are available through a team of board-certified genetic counselors.

Down Syndrome Clinic - Faculty and staff in this clinic have more than 50 collective years of experience in

caring for children with Down Syndrome and provide comprehensive treatment for children and their families,

including medical management, genetic counseling, physical, speech and motor development evaluation and

recommendations, psychosocial support, screening and referral for behavioral and psychiatric problems, and

referral to community agencies for educational intervention or therapies.

Interdivisional and Interdepartmental Collaborations

The Division is a key contributor to the Children's Craniofacial program, participating in weekly care

conferences involving Plastic Surgery, Dentistry, Otolaryngology, Medical Genetics, Psychology, and various

ancillary services such as speech therapy and social work. Faculty also attend the monthly FETAL

conferences, a patient report and management planning meeting run by the department of Obstetrics &

Gynecology and including Neonatology, Pediatric Surgery, Diagnostic Imaging, and Medical Genetics.

Faculty see adult patients as needed in the FETAL center and have joined the Stillbirth Committee, an organ

of the Obstetrics & Gynecology department that reviews all the Parkland Hospital stillbirths.

The Division provides Medical Genetics service in an outpatient clinic in the Aston Center, an ambulatory

care clinic at UT Southwestern Medical Center, performing diagnostic evaluations and ongoing management

of adult patients with Mendelian genetic disorders. This clinic is administered by the department of Internal

Medicine and the Eugene McDermott Center for Human Growth and Development.

Research

The clinical team is unique in that it is fully synchronized with a state-of-the-art research program in the Children's

Research Institute (CRI), a joint venture between UT Southwestern and Children's Health. The Genetic and Metabolic

Disease Program (GMDP) within the CRI is comprised of a team of scientists dedicated to identifying new genetic

diseases and developing new ways to treat children with genetic disorders. The program uses advanced technologies

to evaluate each patient's genetic and metabolic individuality. Laboratory-based approaches in cellular and molecular

biology are used to understand the precise consequences of the DNA mutations identified in patients. The research

team is funded through federal, state, and private grant support. Specific research goals within the GMDP include efforts to:

Discover new genetic causes of childhood diseases

Understand the genetic basis of a range of metabolic functions and its relationship to health and disease in children

Develop new diagnostic methods to detect genetic diseases in patients

Establish clinical trials to assess the effect of new treatments

Construct new disease models using genetically modified mice and use them to test the effect of experimental therapies

Use multidisciplinary approaches to identify and characterize novel malformation syndromes.

The Division has been involved in clinical research projects involving clinical trials of new therapies, as well as

multicenter studies in clinical and molecular genetics. The Division has been involved in translational research, helping

to make a bridge between the basic science researchers in molecular genetics and the patients.

The DeBerardinis Lab uses a combination of techniques in molecular biology, cell biology, and biochemistry,

coupled with metabolic flux analysis using mass spectrometry and nuclear magnetic resonance, and animal

models of metabolism and cancer. Current projects include developing imaging probes to identify abnormal

metabolic activities in tumors and in children with metabolic diseases.

Dr. Angela Scheuerle's work with the Texas Department of State Health Services Birth Defects Epidemiology

and Surveillance Branch (BDES) affords excellent opportunity for both care and research at the public health

level. In 2016, this became dramatically important in the state's preparation for the Zika virus. Dr. Scheuerle

participated with others in the BDES to define case ascertainment parameters, expand information collected

about cases with microcephaly, and provide fast-track surveillance for relevant cases. This work continues as

the state establishes a baseline for microcephaly incidence in anticipation of autochthonous Zika transmission.

In 2021, the Division of Pediatric Genetics and Metabolism led an effort to have UT Southwestern and Children's

Health designated as a Rare Disease Center of Excellence (COE) by the National Organization of Rare Disorders

(NORD). NORD advocates for patients of all ages suffering from about 7,000 rare diseases, many of which have

genetic causes and manifest in childhood. UT Southwestern is among an inaugural group of 31 medical centers

participating in this network. The COE is directed by faculty in the Division and involves over 30 physicians from seven

clinical departments. The COE designation recognizes UT Southwestern's long-standing excellence in both clinical

care and research in rare disorders and attracts patients seeking advanced treatment for these diseases. UT

Southwestern faculty across departments are active in national level working groups within the COE network. The

designation also boosts efforts to recruit the best clinicians, researchers and trainees in medical genetics and related

specialties. The COE supports academic retreats focused on rare disease clinical care and research and campuswide

educational efforts in rare diseases.

McDermott Center for Human Growth and Development

The Division partners closely with the McDermott Center for Human Growth and Development, which serves as the

Center for Human Genetics at UT Southwestern. The Center provides expertise and resources for clinicians and basic

scientists to identify genes and sequence variations that contribute to human diseases and traits. Dr. Ralph

DeBerardinis, the prior Division Chief of Pediatric Genetics and Metabolism, is the Director of the McDermott Center.

This sets the stage for even greater synergism between the Division and the McDermott Center. The McDermott

Center has several core facilities that provide specialized services, including:

DNA Genotyping Core

DNA Next Generation Sequencing Core

DNA Sanger Sequencing Core

Human Genetics Clinical Laboratory

UT Southwestern and the McDermott Center are planning a campus-wide initiative in population genomics, which will

involve exome sequencing and deep phenotyping of at least 150,000 individuals of all ages in the Dallas area. This

promises to be a rich source of data that will benefit all those pursuing genetics research, including the faculty and

trainees in the Division.

Education

The Division is a vital part of UT Southwestern Medical Center's mission to train medical students, residents, fellows,

and allied health professionals in pediatrics, genetics, and metabolism. Faculty in the Division teach medical students

and pediatric residents throughout their training, manage an accredited residency program to train the next generation

of physicians in Medical Genetics, co-direct a fellowship program in Laboratory Genetics and Genomics, and provide

continuing medical education in genetics and metabolism to the Dallas-Fort Worth medical community.

Medical Students

First year medical school curriculum includes:

Medical Biochemistry Course: protein and amino acid metabolism, hyperammonemia and urea cycle defects,

defects in amino acid metabolism (PKU, MSUD, etc.), purine and pyrimidine metabolism, and treatment of

inborn errors of metabolism

Medical Genetics Course: population genetics, inborn errors of metabolism, assessing genetic risk/pedigree

analysis, genetic screening, genetic counseling, and ethical issues in genetics

Third-year medical students participate in pediatrics rotations involving:

Case studies in clinical genetics

Genetics clinic outpatient rotations

Clinical genetics consultations

The Division offers an elective in clinical genetics to fourth-year medical students involving outpatient genetics clinics

and inpatient genetics consultations.

Medical Genetics Interest Group

We provide mentorship to UT Southwestern medical students considering a career in Medical Genetics. This highly

successful interest group meets periodically to discuss new developments in clinical and research-based genetics. We

seek to provide an environment to educate students about career opportunities in this exciting and rapidly expanding

area of pediatrics.

Medical Genetics Residency Program

The Department of Pediatrics, through the Division of Pediatric Genetics and Metabolism, sponsors the clinical

department for the ACGME certified training program in Medical Genetics. Medical Genetics stands alone as a

specialty, rather than being a subspecialty of Pediatrics, Internal Medicine, or Obstetrics/Gynecology. The trainin...