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Center for Human Genomics and Precision Medicine
The Center for Human Genomics and Precision Medicine (UW-CHGPM) is a key member of the UW-Center for Rare Diseases. UW-CHGPM was established in 2018 by the UW School of Medicine and Public Health to catalyze discovery in human genomics, transform innovative translational research into cutting-edge clinical applications, grow the local medical genomics community, and bring genome-based clinical services to the people of Wisconsin. UW-CHGPM is organized into six Programs: Rare Diseases, Novel Diagnostics, Interventional Genomics, Population Health Genomics, Ethics and Policy, and Cancer Genomics. CHGPM also supports a Clinical Genomics core, which provides bioinformatic analyses for rare disease researchers and clinicians. They currently occupy 7,000+ ASF of new space in close physical proximity to the Waisman Center and the Division of Clinical & Metabolic Genetics.
UW-CHGPM’s major operational contribution to the UW Center for Rare Disease is their flagship initiative in rare diseases, the UW Undiagnosed Genetic Disease Program. The UW Undiagnosed Genetic Disease Program’s goals are to provide diagnostic answers for patients with undiagnosed genetic diseases while also discovering new disease genes and advancing our understanding of known disease genes. The Program serves children and adults with significant medical problems who are thought to have an underlying genetic disorder that has remained unidentified despite extensive clinical evaluation. The UW Undiagnosed Genetic Disease Program is also UW’s major link to other rare disease researchers and clinicians around the globe, through formal diagnostic collaborations with the Toronto Hospital for Sick Children (RNA-Seq and epigenomic profiling) and Stanford (metabolomics) as well as data sharing via PhenomeCentral and the Undiagnosed Disease Network International.
Division of Medical Genetics
The Division of Genetics & Metabolism is within the UW School of Medicine and Public Health, the Department of Pediatrics, and UW Hospital, and the UW Center for Rare Disease (UW-CRD). The Division of Genetics & Metabolism has all the component programs, expert faculty and staff, as well as integration of these well-established services to provide excellent care for individuals with rare diseases. They collaborate and work closely with the UW Director of Genetic Counseling, UW Medical Director of Genetic Counseling Services, and multiple genetic counselors affiliated with adult and pediatric specialty care clinics (including Oncology, Cardiology, Craniofacial/Surgery, Nephrology, Neurology, and Dermatology, among others). Their multidisciplinary teams provide excellent clinical care for patients and their families with rare diseases, as well as extensive teaching opportunities, and mentorship for research and scholarly activity for multiple learners preparing to care for those individuals. The faculty are also involved in multiple collaborative clinical research studies and clinical trials to better understand mechanisms of rare disease, their management and potential treatment(s).
The Division of Medical Genetics faculty and staff are affiliated with the Wisconsin State Laboratory of Hygiene, which is responsible for the laboratory component of the newborn screening, and provides genetic testing including cytogenetics and molecular genetics. The Division is also part of the University of Wisconsin School of Medicine and Public Health, the American Family Children’s Hospital, the University of Wisconsin Hospital and Clinics, and the Waisman Center, where patients and families receive medical genetics care both within medical genetics or multi-disciplinary clinics. In addition, faculty, fellows and residents participate in the Department of Health Services (OHS), State of Wisconsin, and Newborn Screening Program (NBS), which includes contract/grants with the University for funding mechanisms in clinical areas. Faculty participate in Amish outreach with grant opportunities available for next generation sequencing with the UW laboratory programs (including laboratory fellowship) under the Collaborative Genomic Core (CGC) program, which in turn provides collective clinical laboratory resources across campus and their partners.
Waisman Center
The Waisman Center is composed of an Intellectual and Developmental Disabilities Research Center (IDDRC) and a University Center for Excellence in Developmental Disabilities (UCEDD). Our IDDRC is one of the original research centers supported by the Intellectual and Developmental Disabilities (IDD) Branch of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Our UCEDD was also one of the first interdisciplinary training, clinical service, dissemination, and applied research centers in the field of intellectual and developmental disabilities (IDD). A major interdisciplinary training component, LEND (Leadership Education in Neurodevelopmental Disorders), is embedded within the UCEDD.
In addition to individual research programs, the Waisman IDDRC has three scientific cores: the Clinical Translational Core offers services, resources, and training in the recruitment of human participants, clinical assessment, behavioral methods development, and production of clinical grade (cGMP) biotherapeutics for use in clinical trials; the Brain Imaging Core offers state-of-the-art neuroimaging instrumentation for both human and animal studies (3T MRI, PET, and microPET scanners for human, non-human primate, and rodent scanning, an EEG recording system, and an fNIRS imaging instrument), as well as expertise and tools for image acquisition and analysis; the IDD Models Core offers resources, expertise, and technical services in cellular and molecular neuroscience, the generation of induced pluripotent stem cells lines from humans with IDD conditions, as well as the generation, cryopreservation, and behavioral phenotyping of mutant or genetically engineered strains of mice and rats as models of IDD conditions.
As for clinical activities on rare diseases, the Waisman UCEDD collaborates with UW Health, the American Family Children’s Hospital, and the department of pediatrics to administer 11 specialty clinics that provide services to rare disease patients. These include Achondroplasia, Angelman syndrome, Baraitser-Winter syndrome, Beckwith-Wiedemann syndrome, Coffin-Siris syndrome, Ehlers-Danlos syndrome, Friedeich’s ataxia, Hunter syndrome, Kabuki syndrome, Krabbe disease, Optiz syndrome, Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Usher syndrome, and Williams syndrome.
School of Medicine and Public Health
The University of Wisconsin School of Medicine and Public Health (SMPH) in Madison is committed to improving the health of Wisconsin and beyond through service, scholarship, science and social responsibility. They are developing new approaches for preventing, diagnosing and treating illness by uniting the principles and power of traditional medicine and public health.
UW SMPH is consistently ranked among the US News and World Report’s best medical schools for primary care and research. Medical, graduate and health profession students explore areas of medicine in a variety of settings from a research hospital to community clinics, sophisticated laboratories to emergency rooms. They join residents, fellow and postdoctoral students in learning from a faculty of internationally acclaimed teacher in more than 25 basic science and clinical departments. In keeping with the Wisconsin Ideas, the borders of the campus extend to the entire state including statewide academic campus location in Milwaukee, Marshfield, Green Bay and La Crosse.
Health professions programs include:
- Doctor of Medicine (MD) – includes Medical Scientist Training Program (MSTP) and Wisconsin Academy for Rural Medicine (WARM)
- Doctor of Physical Therapy (DPT)
- Master of Genetic Counselor Studies (MGCS)
- Master of Physician Assistant Studies (MPAS)
- Master of Public Health
- Graduate programs (MS/PhD) in biomedical and population health science
Department of Pediatrics
The Department of Pediatrics at the University of Wisconsin School of Medicine and Public Health is a vibrant academic department comprising over 185 faculty in seventeen subspecialty divisions. Our education programs meet the needs of learners at all levels: undergraduates, medical students, residents, fellows, postgraduate trainees and practicing healthcare professionals. Our graduating residents enter desirable primary care practices or top-quality subspecialty fellowships in academic medical centers.
The Department of Pediatrics provides a full range of pediatric inpatient and outpatient clinical services in partnership with colleagues from other medical and surgical subspecialties. Clinical facilities include the state-of-the-art American Family Children’s Hospital, community hospitals UnityPoint Health-Meriter and SSM Health’s St. Mary’s Hospital – Madison and outreach clinics statewide. Their Department supports multiple multi-specialty care clinics delivering comprehensive care to children and adults with rare diseases , including Medical genetics, Biochemical genetics, and Bone dysplasia clinics based at the Waisman Center. AFCH supports multidisciplinary clinics including Metabolic Bone disease, Neurocutaneous Clinic, and Neuromuscular Clinic.