Barrow Neurological Institute of St. Joseph's Hospital and Medical Center, Phoenix, Arizona
Pediatric Neurogenetics Center
Children's Health Center at St. Joseph's Hospital and Medical Center
Co-Directors
Vinodh Narayanan, MD
Kirk Aleck, MD
Nursing
Cleo Park, RN, PNP
The Children's Health Center (CHC) at St. Joseph's Hospital and Medical Center established the Pediatric Neurogenetics Center to provide multidisciplinary diagnostic consultation services for children with complex neurogenetic disorders. It is the only center for pediatric neurogenetics in Arizona combining the skills of clinical neurology, genetics, metabolism, and biochemistry to evaluate patients. The center enhances the already excellent patient care services offered at the CHC and Barrow Neurological Institute (BNI).
Dr. Vinodh Narayanan, child neurologist at CHC and the Barrow, and Dr. Kirk Aleck, a clinical geneticist, biochemical geneticist, and cytogeneticist at CHC, oversee the center. Cleo Park, nurse practitioner and coordinator for the Pediatric Neurogenetics Center, along with genetic counselors, nurses, and other members, compose the current staff.
The center offers services for children with the following complex neurogenetic disorders:
- Neurodegenerative disorders
- Familial neurological disorders (including X-linked mental retardation syndromes)
- Mitochondrial disorders (both biochemical and clinical syndromes)
- Cytogenic abnormalities
These children often have neurological problems such as seizures, failure to attain developmental milestones, loss of balance, loss of vision, speech difficulties, movement disorders, stiffness, poor muscle tone, and other symptoms. Management can then only be directed toward symptoms. The evaluation process is often piecemeal, causing repetitive hospitalizations for these children and a huge strain on their families.
Too often, patients with progressive neurological conditions undergo extensive evaluations, neurological examinations, genetic consultations, radiological studies, and metabolic and genetic testing without arriving at a diagnosis.
To overcome these problems, the Pediatric Neurogenetics Center provides a comprehensive, organized approach to clinical evaluation and diagnosis; development of a plan of action for management; and genetic counseling for patients and family members.
The Center serves as a comprehensive resource for pediatricians, geneticists, and pediatric neurologists in the region. The evaluation at the Pediatric Neurogenetics Center provides referring physicians, patients, and their families with a comprehensive review of the patients' clinical and genetic history, prior metabolic and genetic testing, and a plan for completing diagnostic testing. The Center can help arrange specialized testing, including electrodiagnostic tests, genetic tests, and muscle/skin biopsies, and access to state-of-the art genomics research through our collaboration with Translational Genomics Research Institute (TGen).
Genetic Counseling
The cause of these disorders--whether neurodegenerative, mitochondrial, or cytogenetic--is genetic in nature rather than environmental. Consequently, there are huge implications for genetic counseling of patients and their and family. Therefore, the Pediatric Neurogenetics Center also provides genetic counseling for patients and their families. The Center is dedicated to the diagnosis and treatment of hereditary neurological diseases, with a special emphasis on providing appropriate clinical and genetic testing, and genetic counseling to patients and family members. The opportunity to put these families together and to impose order on a large group of familial disorders is why genetic counseling is such an integral part of our services.
As part of the multidisciplinary team, a genetic counselor meets with patients and family members at the Center to discuss reproductive issues and other concerns. The intent is to educate patients and families with genetic neurological disorders, so that they better understand their disease and the implications for everyone in the family.
Research Collaboration with Translational Genomics Research Institute (TGen)
The Pediatric Neurogenetics Center has established a research collaboration with the Translational Genomics Research Institute (TGen) in Phoenix. The goals of the research are to discover the genetic basis of neurological disorders and to contribute to understanding the molecular pathogenesis of neurogenetic disorders.
The collaboration with Translational Genomics Research Institute (TGen) scientists affords state-of-the art genomic testing such as linkage studies for gene identification in small families using SNP chips, investigation of mitochondrial DNA mutations using chip-based DNA sequencing, location of small deletions and duplications that are not detected by conventional methods, mapping of chromosomal break points (in cases of translocation) to identify genes involved in pathogenesis of disease with cytogenetic abnormalities, and genomic imprinting.
The collaboration will serve as an impetus for clinical trials research, offering patients state-of-the-art treatments, such as enzyme therapy for lysosomal disorders.
Currently, patients and families are seen in the Pediatric Neurogenetics Center once a month at the Phoenix CRS Clinics and in the Genetics Department, 222 W. Thomas Rd., Suite 304, Phoenix, AZ 85013.
For more information or to refer a patient to the Pediatric Neurogenetics Center, contact Cleo Park at 602-406-3839.
1) Neurogenetics Clinical Consultation Service
Patients with suspected neurogenetic disorders undergo a comprehensive evaluation in the Pediatric Neurogenetics Center. Clinical history, and results of previous evaluation and testing are obtained by the Nurse Coordinator. Patients and their families are interviewed and examined by the Child Neurologist and Geneticist. A plan is formulated for completing the diagnostic testing (this may include enrollment in one of the research projects under way here), and when possible, specific treatment recommendations are made.
2) Clinical Neurogenetics Research Laboratory (Collaboration with Translational Genomics Research Institute [TGen], Dr. Dietrich Stephan)
Current projects
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Whole genome SNP profiling using microarrays to study gene-dosing defects in patients with undiagnosed neurogenetic disorders
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Mitochondrial DNA sequencing (using the MitoChip) in patients who might have mitochondrial disorders
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Linkage studies in families
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Gene-expression profiling (in leukocytes or specific tissues)
Development of new technologies
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Design of custom arrays (chips) for diagnosis in X-linked mental retardation
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Custom-designed sequencing methods (array based) for groups of neurogenetic disorders: leukodystrophies, poliodystrophies, muscular dystrophies, hereditary polyneuropathies, and trinucleotide repeat disorders
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Design of custom chips for DNA sequencing of selected genes--MeCP2 for Rett syndrome, ARX for mental retardation
3) Translational Genetics Laboratory (Collaboration between Translational Genomics Research Institute [TGen] and St. Joseph's DNA Diagnostics Laboratory and Neurogenetics Center)
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Implementation of new genetic tests for clinical use.
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Application of new methods (microarray hybridization, qPCR, FISH, DNA sequencing) and development of new genetic tests.
4) Developmental Neurogenetics Research Laboratory
The goal of this laboratory is to enhance understanding of the neurobiology of specific genetic disorders, with the eventual goal of developing novel (biologically based) treatments.
Several projects are being pursued:
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Neurobiology of Rett syndrome
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Synaptic and dendritic dysfunction in tuberous sclerosis complex
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Novel molecular pathways in the neurobiology of neurofibromatosis 1
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Studies in congenital fumarase deficiency
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Basic neuroscience studies in synaptic adhesion molecules
5) Neurogenetics Education Resource (in Collaboration with Translational Genomics Research Institute [TGen]):
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Development of a web-based resource (a database) containing information about specific neurogenetic disorders. This includes key clinical and radiological features, current methods of testing, and links to relevant external sources (genetests, OMIM, etc.)
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Expanded role in teaching students at Arizona State University and the new University of Arizona College of Medicine in Phoenix, focusing on the neurobiology of genetic disease and on the genetic basis of neurological disease.
