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Mnesic function has not, at present, been evaluated in patients with Kabuki Syndrome. Some data from the neuroimagery suggest an impairment of memory function. The objective of our study is to assess the mnesic function of children with Kabuki Syndrom.
The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and undiagnosed diseases
The purpose of this study is to demonstrate the safety, tolerability and efficacy of AO+ Mist administered daily for 4 weeks to improve the appearance of skin afflicted with keratosis pilaris.
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.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.
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.