Medical Genetics
AddThis
Clinical Research
- 22q11 Deletion Syndrome
- Congenital Malformations
- Down Syndrome
- Fragile X Syndrome
- Creatine Pathway and Molybdenum Cofactor Disorders
- GSD Type I
- GSD Type II
- GSD Type III
- GSD Type IX
22q11 Deletion Syndrome
Purpose of the study
Chromosome 22q11 deletion syndrome (22q11DS) also known as Velocardiofacial syndrome or DiGeorge syndrome is a common genetic condition, in which there is a deletion on chromosome 22. Children and adults who have the condition can have a number of medical problems, developmental delays and learning disabilities. One of the major concerns for family members and physicians caring for a child with 22q11DS is the increased risk for major psychiatric illness in the late teen and early adult years. The most concerning mental illnesses are schizophrenia, bipolar disorder and depression. It is thought that the missing genes on the chromosome 22 that carries the deletion contribute to the mental illnesses, but the exact genetic mechanism is unknown. It is also unclear what other factors contribute to this risk. Understanding the factors that contribute to the mental illnesses may help in early identification of children who develop these illnesses, resulting in early treatment and better outcomes.
What is involved in the study?
We are performing a five year study on children with 22q11DS to determine the risk factors that contribute to mental illness. Seventy children with 22q11DS between the ages of 9-14 years will participate in the study, along with 70 typical children who will be the control subjects. Each child will undergo psychological tests to determine how he/she is learning and to assess psychological functions such as attention, social skills etc. A structured interview to detect mental illness will also be performed. A brain MRI will be obtained to look for structural abnormalities. A sample of blood or saliva will be obtained for genetic studies in order to understand the genetic factors that may be related to the development of mental illness. A comprehensive follow-up assessment will be preformed three years later and a focused assessment will occur every year. A stipend will be paid to each family for participation in the study. The study is supported by a grant from the National Institutes of Mental Health.
Who is eligible for the study?
Children with 22q11DS between the ages of 9-14.
Contact:
Kelly Schoch, MS
919.681.2772
kelly.schoch@duke.edu
Genomic Study of Congenital Malformations/Syndromes
Purpose of the study
The aim of this study is to obtain a better understanding of the genetic etiology of congenital malformations/syndromes with unknown etiology. Traditionally, karyotype assay, FISH (Fluorescence in situ Hybridization) and CGH (Comparative Genomic Hybridization) have been used to reveal chromosomal abnormalities, either numerically or structurally, in disease states such as cancer, chromosomal disorders and congenital malformations/syndromes. However, as these techniques have limited resolution and may not detect subtle chromosomal changes, we propose using high density oligonucleotide arrays to perform genome-wide screening which may detect small chromosomal aberrations in congenital malformations/syndromes of unknown etiology.
What is involved in the study?
- After confirmation by a clinical geneticist of a diagnosis of congenital malformations/syndromes such as GOLDENHAR syndrome, VATER association, Poland anomaly, Gastroschisis and Diaphragmatic hernia, DNA from affected individuals and their biological parents will be obtained.
- Perform genome-wide screening of these DNA samples using high density SNP markers and then verify genome changes detected by SNP analysis using quantitative PCR, FISH or CGH. Parental DNA will also be studied to determine if these genomic changes are disease causing/polymorphisms as well as for uniparental disomy studies. The genotyping performed for this study will be conducted in Taipei, Taiwan in a research facility at Academia Sinica.
Who is eligible?
All subjects who have a one of the birth defects that are described above are eligible to participate in the study. A maximum of 50 subjects who meet the following inclusion and exclusion criteria:
- Inclusion criteria: Subject has one of the following congenital malformation/syndromes: VATER/VACTREL, Goldenhar Syndrome, Congenital diaphragmatic hernia, Gastroschisis, Poland Anomaly.
- Confirmation of the clinical diagnosis has been/will be made by a clinical geneticist.
- Subjects or guardian agree and are capable of giving informed consent.
- Ability to obtain DNA samples from the subject’s biological parents., If however neither or only one parent is available to provide a sample, this is not an exclusion criteria and the subject can still be included in the study.
Down Syndrome
Photoscreening/Amblyopia in Down syndrome
Purpose of the study
The study is to see if photoscreening, which is faster and does not require dilating the eye, is sensitive and specific in identifying eye problems in children with Down syndrome
What is involved in the study?
This study involves taking a picture of your child's eyes, and if your child has not seen an eye doctor in the past 12 months, a complete eye examination.
Who is eligible?
Children ages 3 to 10 with Down syndrome.
Contact information for study coordinator.
Fragile X Syndrome
For information on current research studies on Fragile X syndrome:
Creatine Pathway and Molybdenum Cofactor Disorders Research Study
Purpose of the Study
We are conducting a research study to investigate the frequency and phenotypic variability of creatine pathway and molybdenum cofactor disorders. Through this research, we hope to gain a better understanding of these conditions so that we can make appropriate recommendations regarding testing, and provide accurate clinical information to affected individuals and their families.
What is involved with the study?
Patients who agree to be in the study will allow us to use their test results and medical information for research purposes. Because the Creatine/Guanidinoacetate and S-Sulfocysteine assays are done on a clinical basis, the patient or referring healthcare provider will be responsible for the cost of obtaining and shipping samples and the cost of the assays.
Who is eligible?
Any patient who is undergoing clinical testing for creatine pathway and molybdenum cofactor disorders by the Creatine/Guanidinoacetate and/or S-sulfocysteine assays is eligible for this research study.
If you have a patient who is being tested for creatine pathway and/or molybdenum cofactor disorders and who is interested in participating in this research study please:
- Give the parents or the legal guardian a copy of the Study Information Letter (information for parents).
- If, after reading the letter, the patient is interested in participating, please complete the Contact Information Form and send it together with the samples and Test Request Form.
Shortly after we receive the Contact Information Form, we will contact the patient to discuss the study in more detail. If the patient wishes to participate, we will ask them to complete a medical records release form so that we can obtain the relevant medical records from you.
Contact:
Jennifer Goldstein, PhD, CGC
Study Coordinato
Tel: 919.549.0445 or 919.684.0626
Fax: 919.549.0709
golds018@mc.duke.edu
Sarah Young, PhD
Co-Principal Investigator
Tel: 919.549.0445
Fax: 919.549.0709
young116@mc.duke.edu
GSD Type I
Clinical and Molecular Evaluations in Glycogen Storage Disease Type I (GSD I)
Purpose of the study
There are three main goals of this study. The first goal of this study is to help health care professionals who are involved in the diagnosis and treatment of GSD I to better understand this disease and its management. The second purpose of this study is to identify changes (mutations) in genetic information which cause GSD I and the different symptoms that people with GSD I can have. Third, we will also be looking for markers in your blood and urine that may help track the clinical symptoms of GSD I. The markers may help us identify people with GSD I who are more likely to develop tumors or cancer in their liver. We will collect additional blood samples to test biomarkers in blood that may help us better diagnose GSD I and track the progression of the disease. We will test urine for specific sugars to find out if they can predict how severe symptoms are.
What is involved in the study?
If one chooses agree to participate in this study, the results of the tests completed while he/she is an outpatient at Duke University Medical Center, receiving the standard care one would normally receive for GSD I, will be collected and studied. If one agrees to participate in this study, he/she will also be asked to complete the additional procedures including genetic testing, a blood draw for biomarkers, a quality of life measure, additional physical therapy measures, and urine tests. In other words, this study seeks to record and analyze the results of routine medical care for GSD I, and to record information from a few additional study procedures. Insurance companies will be charged for the standard medical care, but not for the additional procedures that are not standard of care.
Who is eligible?
Open to all GSD I patients.
GSD Type II
Determination of Cross-Reactive Immunological Material (CRIM) status in Pompe Disease Based on Skin Fibroblast Analysis and Mutation Analysis and the Development of a Blood-based CRIM Assay
For details of this study, please see Information for Parents.
Contact: Joanne Mackey, Nurse Practitioner
919.681.1945
macke003@mc.duke.edu, or
Contact: Joanne Mackey, Nurse Practitioner
919.681.1945
macke003@mc.duke.edu, or
GSD Type III
Clinical and Molecular Evaluations in Glycogen Storage Disease Type III (GSD III)
Purpose of the study
The goal of this study is to help health care professionals who are involved in the diagnosis and treatment of GSD III to better understand this disease and its management. We will examine liver, muscle and heart function and tissue, if available, from individuals with GSD III to determine the extent to which they are involved. We will collect blood samples to test biomarkers in blood that may help us better diagnose GSD III and help track the progression of the disease. We will test urine for specific sugars to find out if they can predict how severe symptoms are. This ongoing study may continue for 5 to 10 years. This study will increase our understanding of how the disease progresses. It may also help us to find ways to predict the clinical course of the disease.
What is involved in the study?
If one chooses agree to participate in this study, the results of the tests completed while he/she is an outpatient at Duke University Medical Center, receiving the standard care one would normally receive for GSD III, will be collected and studied. If one agrees to participate in this study, he/she will also be asked to complete the additional procedures including a blood draw, a quality of life measure, additional physical therapy measures, and urine tests. In other words, this study seeks to record and analyze the results of routine medical care for GSD III, and to record information from a few additional study procedures. Insurance companies will be charged for the standard medical care, but not for the additional procedures that are not standard of care.
Who is eligible?
Open to all GSD III patients.
GSD Type IX
Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX (GSD IX)
Purpose of the study
- To help health care professionals who are involved in the diagnosis and treatment of GSD IX to better understand this disease and its management.
- To identify changes (mutations) in genetic information which cause GSD IX and to find out whether these changes can predict the symptoms of GSD IX that a person has. We will also be measuring the amount of specific sugars in urine to find out if they can predict how severe the symptoms are.
What is involved in the study?
- Review of medical records from evaluations and tests done while receiving the standard care one would normally receive for GSD IX.
- Collection of blood and urine samples for genetic and biomarker studies.
- Filling out a Health Status Survey to give details on how GSD IX impacts the participant’s daily life.
Insurance companies will be charged for the standard medical care, but not for the genetic and biomarker studies.
Who is eligible?
Open to all patients with a confirmed or likely diagnosis of GSD type IX.
Contact:
Jennifer Goldstein, PhD, CGC, Clinical Research Coordinator
919.549.0445
golds018@mc.duke.edu or
Stephanie Austin, MS, Genetic Counselor
919.668.1347
stephanie.austin@duke.edu.
Jennifer Goldstein, PhD, CGC, Clinical Research Coordinator
919.549.0445
golds018@mc.duke.edu or
Stephanie Austin, MS, Genetic Counselor
919.668.1347
stephanie.austin@duke.edu.
Contact Us | Privacy Policy | Site Map | Intranet
Duke Medicine | School of Medicine | Duke University | Duke Children's
Copyright © 2004-2011 Duke University School of Medicine