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.
… and other institutions nearby, I knew it was a good fit for me, and I was hoping to help patients with rare … that all patients with Saul-Wilson syndrome have the same genomic changes and similar clinical signs and symptoms. The … patient came to our clinic, we found their disease-causing genomic variant and looked for other patients with the same …
News Release
NHGRI researchers have developed the Families Sharing Health Assessment and Risk Evaluation (SHARE) workbook, which helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer.
… helps people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal … how their family history is associated with their risk for heritable diseases. The workbook also provides feedback … participants, the researchers plan to include community education programs in future iterations of the workbook. “Our …
News Release
NHGRI marks its fourteenth annual National DNA Day by organizing a nationwide network of educational events for students, teachers and health professionals.
… by organizing a nationwide network of educational events for students, teachers and health professionals. … Celebrated … and even potential careers," said Carla Easter, Ph.D., Education and Community Involvement Branch (ECIB) chief at … a talk on "Harry Potter" genomics - NHGRI is championing genomic literacy by partnering with museums, schools and …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create … impact of such a resource will be immediate and profound for all health care providers who are diagnosing and treating … traits), syndrome, continental region of residence and genomic/molecular diagnosis. The need for the tool became …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group  (GMWG) compiles a list of … interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
Educational Resources
The Human Genome Project was an international project that mapped and sequenced the entire human genome.
… effort that mapped and sequenced the human genome for the first time. Conducted from 1990 to 2003, the project … its scope and scale as well as its groundbreaking approach for the free release of genomic data well ahead of publication, leading to a new …
Fact Sheet
Understanding gene therapy for sickle cell disease
… navigate these new therapies, more than 50 scientists, physicians, patients and other experts worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which …
News Release
Collaboration between NHGRI and the Smithsonian will continue educating visitors on the promise of genomics.
… museums and science centers throughout North America for several years. Now, it’s making a grand return to NMNH, … deputy director of NHGRI and former chief of the NHGRI Education and Community Involvement Branch. There are so many … quizzes to create a high-tech, immersive experience for its visitors. It was originally designed with the dynamic …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… to have been awarded one of the first center grants for the Human Genome Project by the then-named National … describes the largest and most comprehensive catalog of genomic variants that affect gene expression produced to … available on the GTEx portal . …  Every summer, NHGRI’s Education and Community Involvement Branch hosts an annual …
Careers and Training
Scientists and thousands of other professionals are using discoveries in genetics to revolutionize the world. This means careers in genetics and genomics are booming. And there are many other careers you don’t usually think of as science, like education, social work, and even law and the arts that are affected by this growth, creating even more career opportunities.
… other careers you don’t usually think of as science, like education, social work, and even law and the arts that are … and mathematical modeling techniques to the study of genomic systems. They use computational tools and approaches … about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making). Clinical and …