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Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… who have cri du chat syndrome have difficulty with language. Half of children learn sufficient verbal skills to … themselves with a few basic words, gestures, or sign language. Other characteristics may include feeding … educational intervention, as well as physical and language therapy, children with cri du chat syndrome are …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… the path forward has not been without itschallenges. Language barriers, consent concerns Language, culture and the education level of study subjects …
Secondary Genomics Findings Service
Responsibilities as a PI, consent, type of data accepted, and how to apply
… … The SGFS requires that protocols include appropriate language for the evaluation and return of secondary findings. … at a later time. We have provided some suggested language to incorporate into protocols and consent forms. As …
Policies and Guidance
NHGRI ensures that our website is in compliance with Section 508 of the Rehabilitation Act (29 U.S.C. 794d).
… need more information about available resources in your language or in another language, please  contact us . … Policy … Notice to Limited …
Talking Glossary
This updated version of the Talking Glossary of Genomic and Genetic Terms was made possible through the skills, expertise, advice and contributions from many individuals.
… Terms, included entries that used obsolete and antiquated language. We have worked closely with NHGRI researchers, …
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
… other special circumstances of the participants, including language, literacy and attitudes about consent and research … in 2010 and continuously maintained, provides sample language for informed consent forms and additional …
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… 30 percent will seem fine and then regress in both their language and social interactions at around 18 months of age. … behavioral therapies to help children with conversational language and social interactions. Treatment also involves … 4 to 6 percent risk for a milder condition that includes language, social or behavioral symptoms. Brothers have a …
The Genomics Landscape
In the April 7, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the Telomere-to-Telomere (T2T) consortium's publishing of a collection of papers that reported the first truly complete sequence of the human genome.
Event
The NHGRI Center for Precision Health Research sponsors a monthly series of talks by intramural and special guest speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.
… will be presented with real-time captioning. American Sign Language interpreting services are available upon request. …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… queer, intersex, or asexual (LGBTQIA). … Please note: Sign language interpreting and CART services are available upon …