Search Results
Clinical Research
MINI Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease.
… Section invites caregivers of children with mitochondrial disease to participate in a survey about the use of immune therapies in children with mitochondrial disease. … may know, the therapies that a child with mitochondrial disease receives vary from person to person. Some children …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … for the research community." In September, NIH's National Heart, Lung, and Blood Institute launched the Cure Sickle …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … a functional copy of the NPC1 gene into mice with the disease; the treated animals were then found to have less … in the journal Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, were … with ECD provides hope for improving the diagnoses of a disease that affects so many parts of the body. We also hope …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug … Gaucher disease is an inherited condition caused by alterations in …
Fact Sheet
Sickle cell disease resources for patients
… Project welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … What is Sickle Cell Disease?   National Institutes of Health (NIH)  About …
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.
… shows 70% of people who use the workbook discuss their disease risks and health history with family members. … people use their family history to assess their risk for heart disease, diabetes, breast cancer and colorectal cancer. Since … L. M. (2021). Formative Evaluation of the Families SHARE Disease Risk Tool among Low-Income African Americans . Public …
Clinical Research
The NIH Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National … new insights about genetic and biochemical mechanisms of disease, normal cell biology, biochemistry, and physiology. … technologies to identify rare and new genetic causes of disease. These technologies further our understanding of the …
Genetic Disorders
Familial hypercholesterolemia is an inherited condition causing increased low density lipoprotein cholesterol at birth and heart attacks at an early age.
… lipoprotein (LDL) cholesterol beginning at birth and heart attacks at an early age. … density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like … the wall of the arteries and increases the risk of heart disease. Cholesterol is carried in the blood stream in small …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … determined that specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also … rashes and inflammation of the tissues that line the heart, lungs, and abdominal organs. FMF may also lead to …