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News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… to several research teams to study the biology of rare and undiagnosed diseases. The new grants, pending available … funds, support studies to better understand the causes and development of these diseases, and to improve the ability of doctors to diagnose them. …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… need for increased research to develop tools to translate genomic research findings into clinical applications has been … medical devices in fields such as radiology, cardiology, and various other disciplines of medicine. Vast amounts of … as, genomics translational research tools developed with disease expert involvement from the design through …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding … About NHGRI and NIH … New approach successfully traces genomic variants back to genetic disorders …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… Last month, Dr. Sara Hull (NHGRI Bioethics Core Director) and I answered questions about bioethics and genomics research on Twitter as part of #AskDrGenome . … by George Church , Wendy Chung , Jonathan Pritchard , and Carlos Bustamante . Finally, the 91st meeting of the …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … in different tissues, leading to hematological, skeletal, and neurological manifestations seen in patients with Gaucher … coding for the enzyme glucocerebrosidase is called GBA1 and is located in chromosome 1. While there is only one gene …
Fact Sheet
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 ( lovotibeglogene autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of … may depend on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are …
News Release
NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.
… People with sickle cell disease (SCD) can experience excruciating pain all over their bodies, kidney problems, higher risk of stroke and in rare cases, chronic leg ulcers. These and other symptoms result when mutated red blood cells take a … by SCD to find the factors - environmental, social and genetic - that impact the severity of symptoms. They hope …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… As is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the physical workplace. This will obviously be a complex and lengthy process! As has been the case for the past few … or at our physical workspaces at NIH. To foster a safe and fair research and training environment, combating all …
Research at NHGRI
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 … throughout the body. In December 2023, the U.S. Food and Drug Administration (FDA) approved two gene therapies to … disease. More than 50 scientists, physicians, patients and other experts worked together to develop content for the …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… Collaborative effort aims to help patients and their support networks navigate emerging developments in gene therapies for sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies for the disease … by Vence Bonham Jr., J.D., NHGRI acting deputy director and associate investigator in the Social and Behavioral …