Search Results
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.
… Jeannine Mjoseth … People with sickle cell disease (SCD) can experience excruciating pain all over their … Bonham , Jr., J.D., an associate investigator with NHGRI's Social and Behavioral Research Branch , Division of … whether the role of the family is important to the onset of symptoms and complications associated with SCD. Dr. …
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 … bone pain or fractures, and generalized fatigue. Symptom onset may occur anytime between early childhood and … Gaucher Disease and Parkinson Disease In the late 90’s and early 2000’s, scientists at the NIH highlighted an …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… patients with HA20 (haploinsufficiency of A20), a disease that may be associated with inflammatory liver disease and is investigating medications … in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease . Proc Natl Acad Sci U S A . …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus … research careers. Dr. Criswell earned a bachelor’s degree in genetics and a master’s degree in public health … investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. … Lindsey Criswell, …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… 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 … Kiana Amini, a postbaccalaureate research fellow in Bonham’s group who co-led the project. “These resources reflect our …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … invite household members of patients with mitochondrial disease to participate. … This study is open to …
Fact Sheet
Today, gene therapy for sickle cell disease is considered experimental and only available to you if you participate in a clinical trial.
… learn about: Phases of a clinical trial. Study outcome(s). How researchers will know if the treatment worked.  … … be dependent on: Your age. Your diagnosis of sickle cell disease. Your response to other treatments. Whether you are … and bloodwork. …  … Today, gene therapy for sickle cell disease is considered experimental and only available to you …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … Paul Kruszka, M.D., M.P.H., a medical geneticist in NHGRI's Medical Genetics Branch . "Even experienced clinicians have …
The Genomics Landscape
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.
… human genome sequence – specifically, about 3 million G’s, A’s, T’s, and C’s stretching nearly 100 linear feet. As … 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 …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
… (Stanford University) 1:05 - 1:15 p.m. Overview of NHGRI’s Strategic Vision Eric Green, NHGRI 1:15 - 1:25 p.m. Purpose … the Stage - Application of multi-omics to study health and disease Moderator: Judy Cho, Icahn School of Medicine at Mt. … 1: Multi-omics Integration to Understand Health and Disease Nancy Cox, Vanderbilt University 2:15 - 2:45 p.m. …