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News Release

NIH researchers expand Families SHARE, an educational genomics workbook

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.

… shows 70% of people who use the workbook discuss their disease risks and health history with family members. … … 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. Since …

The Genomics Landscape

New NHGRI public information resource on polygenic risk scores

In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.

… new and more powerful ways to assess people’s genetic risk for developing various diseases. One approach has … approaches for using polygenic risk scores as a tool for disease prediction and, it is hoped, improved health … by variants in more than one gene), such as coronary heart disease, diabetes, and depression. Such methods take into …

The Genomics Landscape

International Common Disease Alliance aims to accelerate our understanding of common diseases

In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.

… and the field of genomics. … The International Common Disease Alliance (ICDA) was recently established as a forum … focus on enabling research and activities to move from disease-associated loci, to disease biology, and then to … linked to oxygen drops during sleep Schizophrenia risk gene linked to cognitive deficits in mice Scientists …

News Release

Genetic carriers for sickle cell disease have higher risks of blood clots across diverse ancestries

NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.

… have found that being a carrier for sickle cell disease, known as having sickle cell trait , increases the risk of blood clots, a risk that is the same among diverse … that may not traditionally be associated with sickle cell disease. The study provides estimated clinical risks for …

Fact Sheet

Navigating sickle cell disease gene therapy

Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.

… Gene therapy for sickle cell disease is available to you through FDA-approved therapies ( … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … moved to a protective room in the hospital to reduce your risk of infection. Medical staff will monitor you closely …

News Release

New approach successfully traces genomic variants back to genetic disorders

National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.

… and the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which …

Research at NHGRI

Sickle cell disease gene therapy education project

The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.

… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in …

The Genomics Landscape

New NHGRI intramural precision health research program

… definitively associated with the most common form of the disease. The panel’s results were published in the journal … for Emerging Centers in Fiscal Year 2020. … Rare Disease Day is a worldwide observance that aims to raise … Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual …

News Release

NIH scientists discover a rare neurological disease involving cellular recycling

Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.

… New disease could provide insights into how the cell’s recycling … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …

News Release

Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks

NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.

… predict how a certain type of cancer will progress , find disease-causing genomic variants and identify genetic … and imaging data. After working with propionic acidemia disease experts to create a system to classify patients into … their children after learning about their child’s genomic risk for health conditions. Using immersive virtual reality …