View clinical trials related to Genetics.
Filter by:In the field of sports training and recovery, the work of muscular strength has become the star theme in terms of its influence on the performance of athletes. In fact, in relation to the training of the inferior members, the scientific evidence indicates that, to increase the other two physical qualities conditioned (speed and resistance), it is necessary to work and to increase the muscular strength. Randomized intervention trial with sample size of 80 subjects divided into 4 groups (n = 20) of muscular work: concentric, eccentric, concentric-eccentric and isometric. Ages between 21-23 years. For all the above, the investigators will study as a main objective analyze what type of muscular work is most effective in order to improve some variables of the performance of explosive muscular strength, and to try to determine if that improvement is due, exclusively to the developed training or to the genetics of the subjects and compare the results obtained in the variables of vertical jump, power of saint, horizontal jump and speed 60 meters, before and after the execution of each one of the muscular works dynamic among themselves, and compared to the muscular work isometric.
This survey will assess discrepancies between official clinical genetics guidelines and practices within 3 West regions of France.
Interactions between genes and environment, are likely to be crucial in the development of the common diseases such as type 2 diabetes. Recently, the investigators have obtained data that genotypes of genes encoding for fatty acid desaturases 1 and 2 (FADS1 and FADS2) are the strongest genes in a genome-wide analysis regulating serum fatty acid profile.The aim of this study is to test if subjects with different genotypes of the FADS2 gene respond differently to a diet supplemented with linoleic acid or alpha-linolenic acid (substrates for FADS2). The study hypothesizes that subjects will be more sensitive to the dietary modifications according to their genotype leading to more robust differences in serum FA profile, tissue inflammation and serum lipids.
Demonstrate the relationship between single nucleotide polymorphisms (SNP) and response to a topical skin care product.
This is a family based genotype-phenotype study designed to assess genetic and environmental influences on obesity, insulin resistance and beta cell function in the context of gestational diabetes.
Background: - PIK3CA-related overgrowth spectrum (PROS) is caused by changes in the PIK3CA gene. This gene makes a protein that communicates with other proteins in the body to cause cells to grow. Alterations in PIK3CA change the chemical signals in the body and cause overgrowth in fatty, vascular and other tissues. Sirolimus is a drug that reduces the signals sent by one of the proteins in this chemical signaling pathway. Researchers want to learn whether the drug sirolimus can reduce or stabilize some of the overgrowth that patients with PROS experience. Objectives: - To measure how the overgrowth of patients with PROS changes over time and whether taking a drug called sirolimus can reduce or stabilize a person s overgrowth. Eligibility: - People ages 3 to 65 years old with a confirmed mutation or alteration of the PIK3CA gene in the person s affected tissues (a somatic mutation). Design: - Participants will be screened with medical history and genetic counseling. - First 6 months: Participants will have their overgrowth monitored. - Next 6 months: Participants will take sirolimus once or twice a day. - Participants will have to visit the clinic several times, and stay in the area for 4 to 5 days each time. - Participants will have a one month-long visit to the clinic. - During clinic visits, participants will have: - Blood and urine tests. - Photographs of their physical features. - Scans, including an MRI and DEXA, and possibly x-rays and CT scans. - For the MRI and CT scans, participants will lie in a machine that takes pictures of their body. - The DEXA involves a small amount of radiation. - They may have: - Non-invasive heart function tests. - Lung function tests. - Participants will have several blood and urine tests between visits. - Participants will complete surveys and keep a diary of their treatment and side effects. - Participants may visit other health specialists or undergo other tests based on side effects. - One month after stopping the study drug, participants will have 1 clinic visit.
Preimplantation genetic diagnosis (PGD) is an assisted reproductive technology (ART) by which embryos, created through in vitro fertilization (IVF), can be screened for genetic conditions or traits before they are implanted into a woman s uterus. Within the past few years, a controversial non-medical use of PGD has gained recognition as having possible significant ethical implications. Non-medical sex selection (NMSS) describes the use of PGD technology to choose the sex of a child for social, as opposed to medical, reasons. In the US and a select few other countries, it is legal to use NMSS for family balancing, or the intentional selection of an underrepresented sex to balance a family where the majority of the children are of one sex. Proponents of family balancing believe that NMSS is an expression of reproductive autonomy and is ethically acceptable on those grounds. Opponents are more likely to cite beneficence (toward the existing children and the potential future child) and justice (resource allocation and access, for example) as the basis for concerns around NMSS and family balancing specifically. In the US and other countries, healthcare providers (HCPs) are often the gatekeepers to this technology. There is little research exploring the experiences of HCPs with PGD and NMSS. The Moral Experience framework (Hunt and Carnevale, 2011) is useful for understanding the potential concerns of HCPs as well as their feelings and behaviors evoked by lived and hypothetical experiences around NMSS. Also of interest is how HCPs feel that decisions about NMSS are made and their preferences as to how they should be made. Finally, there is concern that NMSS may be the first in a line of non-medical uses for PGD and that a slippery slope toward what some describe as designer babies will follow. We are interested in eliciting the traits that HCPs believe are hypothetically appropriate or inappropriate for PGD and how they make the distinction. Interviews with HCPs (OBGYNs and reproductive endocrinologists) on these topics will be transcribed and subjected to thematic analysis in order to identify common themes. An understanding of the experiences and attitudes of this stakeholder population can help clarify current issues at individual, societal, and global levels and future directions for research and policy....
The objectives of the current study are to identify and evaluate new prognostic non-invasive and serological markers in patients with pulmonary hypertension. The focus will be on L-arginine metabolism and to clarify its influence on endothelial function.
Background: - Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations. Objectives: - To understand more about what causes congenital malformations that arise in early human development. - To learn if genetic causes can be found to explain why a person has a congenital malformation. Eligibility: - Individuals who have been diagnosed with a congenital malformation. Design: - Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history. - Parents or siblings of participants may also be asked to provide information for research purposes. - Participants may have additional medical evaluations as part of this study, including any of the following tests: - Physical examinations - Other consultations as clinically indicated - Blood samples for genetic testing - Tissue biopsy for genetic testing - Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet. - Other tests as indicated by a specific malformation, such as organ ultrasounds. - No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....
Studies have shown that there is a significant association between serum bilirubin concentrations and risk of coronary artery disease (CAD). So far, no linkage analysis in humans between serum bilirubin and DNA markers has been reported. The purpose of this protocol is to identify chromosome regions that contain quantitative trait loci (QTL) involved in serum bilirubin metabolism and bilirubin concentration. In the Framingham Study, a 10cM genome scan (about 400 markers) has been conducted in more than three hundred families. Serum bilirubin was measured in the first and second exams of the Framingham Offspring. These data provide us the opportunity to undertake linkage analyses to map QTL of serum bilirubin.