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Fact Sheet

Patient resources for sickle cell disease gene therapy

Sickle cell disease resources for patients

… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … About Sickle Cell Disease Centers for Disease Control and Prevention Sickle Cell Disease American Society of … American Society of Hematology (ASH) … Gene Therapy and Sickle Cell Disease (video) American Society of Gene & …

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.

… to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms; this finding …

The Genomics Landscape

20 years later, genomicists remember the draft human genome sequence

In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.

… is likely the case for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the … politicians, ambassadors, scientists, company executives, disease advocates, and journalists gathered to celebrate a … (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are …

The Genomics Landscape

NHGRI program to explore the impact of genomic variation on genome function

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 … of the central challenges in biology is understanding how genomic variation affects genome function to influence … two decades, researchers have cataloged numerous genomic variants that may play a role in human disease. However, …

News Release

NIH grants seek best ways to combine genomic information and EHRs

NIH will support research that incorporates DNA sequence information into electronic medical records.

… of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to … identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 …

News Release

Researchers create the largest global catalog of variations in the dog genome

NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.

… (NHGRI) have generated the largest catalog of genetic variants associated with physical traits for domesticated dog … if variants associated with dog body structure, behavior and life span could also be implicated in related human … sequencing and genome-wide association studies to identify genomic variants associated with sixteen observable …

News Release

New NIH studies seek adults and families affected by sickle cell disease/trait

NHGRI researchers seek help from people with Sickle Cell Disease to find the factors - environmental, social and genetic - that impact the severity of symptoms.

… Jeannine Mjoseth … 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 …

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 ( lovotibeglogene autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of …

News Release

NIH supports approaches to discovering DNA differences in genome’s regulatory regions

NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.

… support research to identify differences - called genetic variants - in the less-studied regions of the genome that are … the specific variants that play a role in the disease and to define what that role is. The new awards, funded by … predictions about which variants in non-protein-coding genomic regions affect disease susceptibility and response to …

Clinical Research

Gaucher Disease Clinical Studies at NIH

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 …