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MINC

MINC: How do we assess if we are making a difference?

Evaluation of whether or not all your hard work is making a difference is important.

Educational Resources

Susceptibility is a condition of the body that increases the likelihood that the individual will develop a particular disease.

… likelihood that the individual will develop a particular disease. … Gene, Gene Environment Interaction, Inherited, Risk … Susceptibility, as related to genetics, refers to the … predisposed to, or sensitive to, developing a certain disease. An individual’s disease susceptibility is influenced …

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 …

News Release

Sickle cell disease community hopeful genome editing will rechart course of disease

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). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … increases the production of fetal hemoglobin which reduces disease severity. Study participants expressed overall …

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 … your general understanding of gene therapy for sickle cell disease. We encourage you to use these educational materials … provider or a clinical trial team. … What is Sickle Cell Disease? National Institutes of Health (NIH) About …

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 … anemia in 1910, but there is still much to learn about the disease," said Vence L. Bonham , Jr., J.D., an associate …

News Release

Genomic variation causing common autoinflammatory disease may increase resilience to bubonic plague

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 … animation depicting specific genomic variants that cause a disease called familial Mediterranean fever (FMF) may also …

News Release

New centers to help understand biology, improve diagnoses, of rare mysterious diseases

NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.

… explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … in the DNA code - called variants - can cause a disease. Scientists at the center, led by Hugo Bellen, … of Oregon in Eugene, will eventually study the potential disease-causing effects of approximately 200 gene variants …

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 … neurological manifestations seen in patients with Gaucher disease. The gene coding for the enzyme glucocerebrosidase is … mutations in the GBA1 gene give individuals an increased risk for the development of Parkinson disease. Further …

News Release

Automated toolset detects disease-causing genes in undiagnosed patients

Researchers at the NHGRI's Undiagnosed Disease Program have developed a new toolset for finding potential disease-causing gene variants in undiagnosed patients.

… with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The … that could be responsible for an individual's undiagnosed disease, thereby increasing the likelihood of a diagnosis." …