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News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… he added. ethical issues in pediatrics are often more complex than in the medical treatment of adults, said jean … child , the pediatrician can override them. "it's a more complex analysis," said dr. mcewen, "you've got surrogate … framework … related content … who should decide? the complex ethics of pediatric genome sequencing … the clinical …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… other names for wagr syndrome that are used are: wagr complex wilms' tumor-aniridia-genitourinary anomalies-mental … national wilms' tumor study national eye institute (nei) genetics and rare diseases information center finding …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… heme is produced in the bone marrow and liver through a complex process controlled by eight different enzymes. as … to many disorders and interpretation of the tests may be complex. a large number of tests are available, however, but … you know has porphyria, we recommend that you contact a genetics clinic to discuss this information with a genetics
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Genetic Disease Research Branch.
… and treatment strategies. dr. brooks applies mendelian and complex genetics approaches to studying uveal coloboma in patients. … brooks, congenital malformation, mendelian genetics , complex genetics … brian brooks, congenital malformation, …
Staff
Dr. Ayo Doumatey is a Research Fellow and Laboratory Manager at NHGRI's Center for Research on Genomics and Global Health.
… she has used different strategies to study the complex molecular basis of metabolic disorders including … on genomics and global health, genetic epidemiology, complex diseases, inflammation … ayo doumatey, center for … on genomics and global health, genetic epidemiology, complex diseases, inflammation … dr. ayo doumatey is a …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… (mcidgb) studies the genomic and social determinants of complex diseases. … investigators focus, in particular, on … advances research into the role of culture, lifestyle, genetics and genomics in disease etiology, differential … that explore the patterns and determinants of common, complex diseases in populations in the united states and …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… with the disorder. scientists believe that adhd is a complex disorder that probably involves at least two genes. …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… and the decision about whether to have genetic testing is complex . a geneticist or genetic counselor can help families …
Policy Issues
Most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller.
… criteria, adapted from the national library of medicine's  genetics home reference . analytical validity: refers to how …
Staff
Dr. Ebony Madden is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… hill, her m.s. in genetic counseling and her ph.d. in genetics and human genetics from howard university. her … interests include population genomics, genomic medicine, complex disease and health disparities. … levy kd, blake k, … participants. gene-environment interplay in common complex diseases: forging an integrative …