Search Results
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.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. Ferreira discusses the … During my last year of high school, I decided to pursue a career in medicine because I found it challenging and … to say that I have never regretted making that decision so early, specifically, at the age of 18. The idea to become a …
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… Meat, milk, clothing and companionship are among the goat's many gifts since its … contributed its DNA to a study that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this technique will be useful for accurately reading the genomes of individual humans and …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… Test for rare genomic condition measures disease severity and success of liver transplantation for patients. … The study results were published in Genetics in Medicine . Scientists at the National Human Genome Research Institute … Your browser does not support the video tag. Breath test for methylmalonic acidemia measures disease severity and …
Media Advisory
Researchers from the NIH-funded Human Pangenome Reference Consortium will answer questions about a set of papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 a.m. E.T.
… papers to be published in the Nature Portfolio journals and Genome Research. The papers and the briefing are under embargo until May 10, 2023, at 11 … of the Human Genome Reference Program, which is funded for five years for a total of $35 million. This embargoed …
Research Training
NHGRI funds training and career development programs at academic, medical and other institutions throughout the U.S.
… Harvard Medical School Training Program in Bioinformatics and Integrative Genomics Peter Park Catherine Haskell Lilen Uchima ✔ Princeton University Quantitative and Computational Biology Graduate Program John Storey Josh … ✔ University of California Berkeley Genomics and Computational Biology Training Program Rasmus Nielsen …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… After a decorated career as a geneticist at NHGRI, he looks forward to more art and community work. … family with a construction business. I went to college for animal science with the intent of becoming a veterinarian and worked on a dairy farm for a while. I’ve always wanted …
Profile
In an interview, Boyer reflects on her NHGRI career, the history of the NHGRI ELSI Research Program and the exciting future of research at the interface of ethics and genomics.
… From pastor to program director in the Division of Genomics and Society, Joy Boyer concludes her distinguished career at NHGRI. … you seen NHGRI’s ELSI Research Program change over your career? Joy Boyer: As genomics has evolved, the ELSI … broadly, and I think that was always the goal since the early 1990s when the program started. When ELSI and genomics …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… para enfermedades raras y desatendidas ( Therapeutics for Rare and Neglected Diseases , TRND), a fin de crear un canal de … de trastornos se encuentran la National Organization for Rare Diseases (Organización Nacional para Enfermedades … For Patients and Families …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… than $28 million aimed at deciphering the language of how and when genes are turned on and off. These awards emanate from the recently launched … type of skin cell (keratinocyte) as it develops from an early stage skin cell into a mature cell. To do this, they …
News Release
Funding to advance understanding of RNA biology and development of RNA-based technologies
… Funding to advance understanding of RNA biology and development of RNA-based technologies. … to provide approximately $15.4 million over three years for research into the structures, functions and interactions … chambers through which fluids are moved or stored. Scientists use long RNA molecules to probe genomic pathways …