Search Results
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… The Cancer Genetics and Comparative Genomics Branch seeks to identify and study genes that contribute to … The branch focuses on inherited and somatic (body cell) mutations … collaborative agreements with universities, academic medical centers, and clinics. Develops and maintains banks …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and … of the branch is to demonstrate that research findings and opportunities derived from genetic and genomic … the NIH Intramural Sequencing Center and the NIH Chemical Genomics Center support projects that expand the breadth of …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… new efforts for all of NIH to support equity, diversity, and inclusion in science, with the ultimate goal to end … pandemic, I would — as I have in previous issues of The Genomics Landscape — like to offer some “remote learning” … Later today at 2 p.m. ET, Vence Bonham (Senior Advisor for Genomics and Health Disparities) and I will answer questions …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… The Genetic Disease Research Branch studies the mechanisms by which genetic changes affect the structure and function of gene products leading to human disease. … in understanding how disruptions in signaling pathways and transcription factors contribute to disease. Our …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and informatic tools to improve the diagnosis, treatment and prevention of disease to foster next-generation … Center for Precision Health Research (CPHR) (formerly the Medical Genomics and Metabolic Genetics Branch) was …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… The Translational and Functional Genomics Branch (TFGB) studies how genome structure and function … researchers have developed a wide range of experimental and computational techniques to study all aspects of the … technology development in genetics and computational genomics, including functional assessment, systematic …
For Patients and Families
A list of resources and information on financial aid for medical treatment.
… of U.S. government biomedical research institutions and is not authorized to provide routine medical assistance or treatment funds. These are some … that may help in finding information on financial aid for medical treatment. … only and are not intended as a substitute for professional medical care, advice, diagnosis, or treatment. This material …
Staff
Dr. Ferreira was a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Dr. Carlos Ferreira went to medical school at the National University of Asunción, … a fellowship in Clinical Genetics at the NHGRI and Johns Hopkins Hospital Medical Genetics consortium … Lausanne, Switzerland, and in the Society for Inherited Metabolic Disorders North American Metabolic Academy (SIMD …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to gain … in molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments … research focuses on disorders of sialic acid metabolism and of lysosome-related organelles. Sialic acid is a …
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 challenges of skeletal genomics. … Soo: What was your path to becoming a clinician and a researcher? Ferreira: Initially, I wanted to be a … country of Paraguay, you go from high school directly to medical school. I have to say that I have never regretted …