Search Results
Policy Issues
Most ethical discussions about genome editing center on human germline editing because changes are passed down to future generations.
… editing changes made in the germline would be passed down to future generations. … editing because changes made in the germline are passed down to future generations. ​ … on human germline editing because changes are passed down to future generations. …
Research Funding
This content map provides an overview of the Contacts by Research Area webpage. Use the drop-down menu to see the subtopics under each category.
… of the Contacts by Research Area webpage. Use the drop-down menu to see the subtopics under each category or use the … of the Contacts by Research Area webpage. Use the drop-down menu to see the subtopics under each category. … of the Contacts by Research Area webpage. Use the drop-down menu to see the subtopics under each category. …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … The NIH group first encountered a patient with the syndrome approximately 10 years ago. The patient, then 3 … CECR1 in addition to a small genomic deletion that shuts down the second copy of the gene. They needed only a sequence …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… group was the first to uncover the cause of Saul-Wilson syndrome and characterize the disorder. What are some key … Ferreira: We found that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical … heart. One that he knows particularly well is Saul-Wilson syndrome, a condition so rare that only four patients …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly … of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly … of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… This summer, Ms. Iriele focused on patients with Turner syndrome (TS), a chromosomal condition affecting development … student from Cameroon, collected images on Fragile X syndrome from physicians around the world and assessed the … and physical characteristics of Cornelia de Lange syndrome, a developmental disorder that is characterized by …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… natural history of numerous diseases, including Proteus syndrome, PIK3CA-related overgrowth syndrome, TARP syndrome, oculofaciocardiodental syndrome, Lenz … including malformation syndromes, such as Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome, …
Educational Resources
Monosomy refers to the condition in which only one chromosome from a pair is present in cells rather than the two copies usually found in diploid cells.
… Monosomy, Chromosome, Diploid, Genetic Diseasem, Turner Syndrome, Cri Du Chat Syndrome … monosomy, causes certain human diseases such as Turner syndrome and Cri du chat syndrome. …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by … This syndrome consists of four cardinal symptoms: (1) multiple, … Disease, Rare Disease, Tumors, Adiposis Dolorosa, Anders' Syndrome, Dercum-Vitaut Syndrome …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder …