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Current lab reports are designed to communicate results from the laboratory to the provider; they are not designed to be accessible to patients. The investigators believe that a new type of genomic test report, tailored for patient- as well as provider-use, will enable patients to have access to information they can understand allowing them to be more involved in the management of their disorders, better navigate the health care system, and make more informed decisions about their health and health care in conjunction with their providers. This approach has the potential to improve outcomes from both the patient and provider perspectives. The investigators propose to study the research question, "Can a genomic laboratory report tailored for both providers and families of patients improve interpretation of complex results and facilitate recommended care by enhancing communication and shared decision making?"
Apparently balanced chromosomal rearrangement (ABCR) associated with an abnormal phenotype is a rare but problematic event. It occurs in 6% of de novo reciprocal translocations and 9% of de novo inversions. Abnormal phenotype, including intellectual disability and / or multiple congenital anomalies (ID/MCA) may be explained either by associated cryptic genomic imbalances detectable by array-CGH or by gene disruption at the breakpoint. However, breakpoint cloning using conventional methods (i.e., fluorescent in situ hybridization (FISH), Southern blot) is often laborious and time consuming and cannot be performed routinely. Without complete investigation of these rearrangements, genetic counseling is a real challenge. Recently, the investigators and others showed that Next-Generation Sequencing (NGS) is a powerful and rapid technique to characterize ABCR breakpoints at the molecular level. The ANI project (ABCR NGS ID) aims at characterizing at the molecular level ABCR in 55 patients presenting with intellectual disability and/or multiple congenital anomalies (ID/MCA) using NGS. The investigators make the hypothesis that ABCR account for the patient phenotype, either by gene disruption or position effect, since genomic imbalance would have been previously excluded by array-Comparative Genomic Hybridization (CGH). The ANI project is a 3-year-long study that will be conducted by a consortium of 21 partners, including 19 french hospital cytogenetics laboratories, a research team (TIGER), and a cellular biotechnology center. Patients will be recruited by each Cytogenetics laboratory. ABCR breakpoints will be molecularly characterized by NGS and a first bio-informatics analysis. The results will be verified by amplification of junction fragments by polymerase Chain Reaction (PCR) followed by Sanger sequencing, allowing the localization of breakpoints at the base-pair level. In some complex cases, FISH experiment will be necessary to clarify the results. A second bio-informatics analysis will then determine breakpoints' characteristics (sequence, repeated elements, gene and regulatory elements). Finally, for each breakpoint, gene expression studies will be performed including the gene disrupted by the breakpoint and two neighboring genes. All these data, together with those already available in the literature and databases will be integrated to determine if the gene could account for the patient's phenotype, allowing an appropriate genetic counseling. This project will identify new candidate genes involved in ID and developmental anomalies. It will also contribute to the development and evaluation of NGS as a diagnostic tool for ABCR and ID/MCA. It will also allow unraveling mechanisms and functional consequences of ABCR, in particular in term of position effect. In conclusion, the ANI project will contribute to the improvement of diagnostic management and genetic counseling of patients with ID/MCA and ABCR. It will also contribute to the understanding of ABCR physiopathology and to the unraveling of pathway involved in development and brain function, thus improving genetic counseling for ID/MCA patients in general.
Fanconi anemia is a rare autosomal or sex linked recessive genetic disease. The disease is characterized by bone marrow hematopoiesis failure, multiple congenital abnormalities, and susceptibility to neoplastic diseases. The cells of FA patients are extremely sensitive to MMC and DEB. The symptoms and ages of FA patients are different, so by comparing the exome of FA patients and their parents, the mutations that were accumulated in FA patients could be found, and these genes might be sensitive to repairment and be important for hematopoiesis maintainance.
Create a census for the duration of the search for French patients with SK - determining epidemiological and morphological parameters, - determine the true frequency of clinical symptoms and identify new ones, - identify complications of the disease to improve the care of patients in the hope of a better prognosis of the disease and - performing a radiological study by Voxel based morphometry MRI type (N. BODDAERT, HOPITAL Necker-Enfants Malades, Paris) Perform genetic research to identify the genetic bases of SK using CGH-array (Comparative Genomic Hybridization )
The investigators hope to establish whether or not the diode laser, a longer-wavelength laser, is effective in treating keratosis pilaris, and hopefully opening a door into the discussion and management of this skin condition. The primary outcome of interest is the difference in the overall blind rater severity scores of the treated versus the untreated sites. The secondary outcome of interest is the change in the patient's self-rated severity score of the treated site. To account for potential natural disease progression or regression, the investigators will also compare patient mean changes to the mean changes in severity scores of the untreated site.
Background: - A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called whole genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: - To identify the genetic cause of disorders that are difficult to identify with existing techniques. - To develop best practices for the medical and counseling challenges of whole genome sequencing. Eligibility: - Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. - Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: - Participants in this study will have at least one and in some cases several of the following procedures: - A medical genetics evaluation. - Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. - Clinical photographs to document certain aspects of the disorder. - Blood and skin biopsy samples, or other tissue samples, as required by the study doctors. - Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo whole genome sequencing, which is a technique to study all of a person s genes. - Some participants may be asked to take part in a telephone interview and/or a web-based survey. - Participants will have choices about what kinds of results from whole genome sequencing they wish to learn. - After the tests have been completed and the results of the genetic studies are known, participants will be offered a return visit to the National Institutes of Health to learn these results. During this visit, participants will be asked to complete surveys and participate in interviews related to their decisions to participate in the study and to learn individual genetic test results.
Background: - Rare and undiagnosed conditions are often chronic and disabling, with symptoms affecting different organ systems at various levels of severity. Perhaps the most challenging feature of an undiagnosed medical condition that has lasted 2 or more years is its characteristic uncertainty. In the absence of a diagnosis, health care professionals can provide only limited treatment and prognostic information. - In the case of a child with an undiagnosed condition, the uncertainty that accompanies what is often a chronic, debilitating medical condition and an undefined prognosis may have physical, psychological, social, and spiritual implications for the entire family. Research suggests that parents of a child with an undiagnosed medical condition may be at significantly increased risk of anxiety, depression, poor health, and overall lower quality of life. - It is not well understood how individuals cope with and adapt to chronic uncertainty, and the factors that influence this process. To design future interventions, descriptive studies are needed to reveal predictors that can be manipulated to improve outcomes. Objectives: - To examine whether perceptions of uncertainty, and perceived personal control, are associated with coping and adaptation. - To examine how the length of time elapsed since child was identified as sick and perceptions of uncertainty affect coping and adaptation. - To assess how perceptions of uncertainty, time elapsed since child became sick, optimism, and perceived personal control affect coping and adaptation. Eligibility: - Parents (older than 18 years of age) of children who have an undiagnosed medical condition. - Participants must have a working e-mail address or fixed postal address. Design: - Parents will be recruited from Web-based support networks for parents of undiagnosed children through Web site postings, electronic mailing lists, and printed newsletter postings. - Participants will be asked to complete a questionnaire about their experiences in living with a child who has an undiagnosed but chronic medical condition. The main outcome variable is adaptation to living with one's child's undiagnosed medical condition. - Participants have the option to complete an online or paper version of the questionnaire. The questionnaire should take between 20 and 30 minutes to complete. - No medical treatments are specifically offered as a part of this study.
Keratosis pilaris (KP) is a benign skin condition that often is very frustrating for the patients and treating physicians. The investigators are interested to see if the study product is effective in treating moderate to severe KP.
Primary objective: - assessment of the prevalence of AHI1 mutations in Joubert syndrome and cerebello-oculo-renal syndromes (JS/CORS) Secondary objective: - assessment of the prevalence of CEP290 mutations and NPHP1 homozygous deletions in JS/CORS - caracterization of mutational spectrum of AHI1, NPHP1, CEP290 genes in JS/CORS. - evaluation of genotype-phenotype correlation in JS/CORS.
Ehlers-Danlos syndrome vascular type (EDS-IV) is caused by a genetic defect of collagen type III. Patient die (median 40 yrs) of vascular complications. There is no treatment. We showed that arteries are thin and overloaded in this patients. We test the protective effect of celiprolol on cardiovascular events in a 5 years, randomized, PROBE design