In the first study of its kind, NHGRI researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease. Study participants expressed overall optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and transparency of the research enterprise, according to the findings published December 24 in Genetics in Medicine.
NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to can help doctors predict how severely patients with the rare disease methylmalonic acidemia are affected and when to refer them for liver transplants. The findings, published December 6 in JCI Insight, also might shed light on more common disorders such as fatty liver disease, obesity and diabetes.
Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution.
North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland -- than previously thought, according to a new genomics study in Nature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data.
In the United States, an estimated 2.5 to 3 million people have a gene variant associated sickle cell trait (SCT) and most never have related health complications. NIH researchers and their colleagues have now identified three health conditions for which people with SCT are at increased risk. They include pulmonary embolism, proteinuria and chronic kidney disease. Findings from this first comprehensive review of clinical outcomes associated with SCT were published in the October 30, 2018, issue of the Annals of Internal Medicine.
Researchers at the National Institutes of Health (NIH) and the United States Department of Agriculture (USDA) have developed a new technique that will aid in a more accurate reconstruction of genomes, specifically in determining the sections of the genome that come from each parent. This new technique, published in the journal Nature Biotechnology, will allow researchers to identify further complexity within any type of genome - from plants to humans - and provide more precise reference genomes in researcher databases than are currently available.
Daniel Kastner, M.D., Ph.D., scientific director of the National Human Genome Research Institute (NHGRI), was named the Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program, known as the "Sammies." Dr. Kasnter is recognized for his work in identifying an entire new class of rare genetic diseases and treatments to alleviate suffering for thousands of patients in the U.S. and around the world.
The use of racial and ethnic categories in biomedical research is part of a complex and sometimes contentious conversation about how science and society talk about human variation. In a commentary published September 24 in the Journal of the American Medical Association, NIH leaders have called on the scientific community to develop and adopt consensus practices for the use of race, ethnicity, social determinants of health, and ancestry data in study design, interpretation of results, publications and medical care.
Every year, graduate students and postdocs at the National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health compete in a high-energy science communications contest called the Three-Minute Talk (TmT). For the first time in competition history, all the participating institutes agreed to allow postbacs to compete in the TmT finals. NHGRI's Stacy Desine earned first place after the finals on June 29, 2018, becoming the first postbac to win the TmT competition.
In the world of canine genomics, sport hunting dogs are super athletes and terriers are plucky supermodels. NHGRI researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers lacked in sporty genes, they made up for in genes associated with physical attributes such as their trademark facial hair. The researchers published their findings in The Proceedings of the National Academy of Science (PNAS).
A year ago 14-year-old Rohith Lokesh spent most of his days barely walking and in a wheelchair. After cutting-edge treatment at the NIH Clinical Center this patient is winning dance contests back in his hometown. This patient's story highlights what the NIH Clinical Center can do that's hard to do somewhere else. From using mechanistic studies and genome sequencing to inform your patient care - that's unique to NIH.
Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from Partners Healthcare/Harvard Medical School and the National Institutes of Health. They found significantly fewer studies of African, Latin American and Asian ancestral populations compared to European populations in two public databases. Findings were published online May 7 in Health Affairs.
Researchers at the National Institutes of Health and the University of Alabama have discovered a connection between the genes that contribute to hair color and the genes that control the body's immune system. This new mouse study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.They published their findings May 3, 2018, in PLOS Biology.
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. By adding highly accurate images and clinical information of diverse people with Williams-Beuren Syndrome, healthcare providers will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and better medical care. Results are published in the May 2018 issue of the American Journal of Human Genetics
Many Americans love all-you-can-eat buffets - but how do they choose what to eat? Using a virtual reality (VR) buffet, NHGRI researchers studied the hundreds of micro-decisions mothers make while selecting food for their children to better understand the mechanism through which some made healthier choices. Eventually, researchers may be able to design better interventions to improve people's food choice behavior and "nudge" people toward more healthy choices.
NHGRI researchers and their collaborators are making inroads into the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 issue of >Molecular Genetics and Metabolism
On November 21, 2017, experts from NHGRI's Social and Behavioral Research Branch (SBRB) turned to a Reddit "Ask Me Anything" (AMA) to answer questions about their work on family health history. AMA hosts were Laura Koehly, Ph.D., SBRB chief, Chris Marcum, Ph.D., a staff scientist, and Jielu Lin, Ph.D., a post-doctoral fellow. The team answered questions from how to change behaviors after learning disease risk through family health history, to understanding risk when family health history is unknown. Here, we recap the event.
American Society of Human Genetics (ASHG) members have selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and long-time investigator with NHGRI, as their new president-elect. In 2019, Dr. Biesecker will become president of ASHG, a professional membership organization for human genetics specialists worldwide. He will serve in his personal capacity. Dr. Biesecker is the senior investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch.
On November 2, 2017, experts from The NHGRI Dog Genome Project turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). Dog genomes hold a wealth of information for understanding natural variation in dog populations, like body size or fur type, and for learning more about how the genomes of both dogs and humans contribute to health and disease. Read a recap of the recap of the event.
A new NHGRI study focused on why some people grow out of childhood attention deficit hyperactivity disorder (ADHD) and others continue to have symptoms into adulthood. They discovered that adults with ADHD persisting from childhood partly lose the usual balance found between brain systems that control action and those that emerge when they are simply day-dreaming or introspecting. This imbalance might account for the lapses of attention that are found in ADHD. The study was published in the Oct. 31 issue of PNAS.
Using facial analysis software, researchers with the National Human Genome Research Institute (NHGRI) and their collaborators successfully diagnosed Noonan syndrome in Africans, Asians and Latin Americans. Noonan syndrome will become part of the Atlas of Human Malformation Syndromes in Diverse Populations, a free online tool that helps healthcare providers better recognize and diagnose rare diseases in non-Europeans. The findings were announced in the September 2017 issue of the American Journal of Medical Genetics.
Three students from this year's NIH Summer Internship Program in Biomedical Sciences share their experience spending the summer working on The Atlas of Human Malformation Syndromes in Diverse Populations, an online resource that helps healthcare providers diagnose patients from geographically diverse regions of the world. Thousands of applicants compete for spots in the program, which places interns at NHGRI and other institutes to conduct basic and clinical research.
The National Human Genome Research Institute (NHGRI) and other institutes at the National Institutes of Health recently participated in a high-energy science communications contest called the Three-Minute Talk (TmT). NHGRI's Ryan Johnson came away with a first place win after the finals on June 29, 2017.
Cancer patients were a little more likely to survive for five years or more after chemotherapy if they interacted during chemotherapy with other patients who also survived for five years or more, according to a new study by researchers at the National Human Genome Research Institute, part of the National Institutes of Health, and the University of Oxford in the United Kingdom. The findings were published online July 12, 2017, in the journal Network Science
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response. Based on clinical data from patients with mitochondrial disease, the researchers created a mouse model of mitochondrial disease in T-cells, which play important roles in humans' immune response. The mutations resulted in an increased risk of infections and reduced protective immunity after vaccinations. The study appeared June 6, 2017, in the journal Cell Metabolism.
Since 2014, NIH has offered Institutional Review Board (IRB) training to American Indians and Alaska Natives. Dr. Deana Around Him, a citizen of Cherokee Nation of Oklahoma and training participant, learned how NIH ensures the welfare of people who participate in biomedical studies and helped improve the IRB training.
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch (SBRB), which conducts research that will potentially transform healthcare through the integration of genomic medicine into the clinic. Her overarching goal for the branch is to build bridges across disciplines, including fields within the social and behavioral sciences and the biological and genomic sciences. SBRB research also includes a focus on disorders that have a major public health impact.
NHGRI researchers and their collaborators have identified mutations in the TAF1 gene in clear cell endometrial cancer (CCEC) tumors, shedding light on the underlying genomic changes that are likely to be important in driving development of this a rare but clinically aggressive form of endometrial cancer. The study was published May 9, 2017, in the journal Cancer.
Attention-deficit/hyperactivity disorder (ADHD) is highly heritable, but researchers don't know much about the genes that cause it. Read about the experience of a participant in a National Institutes of Health (NIH) clinical trial who is helping researchers find the contributing genes. After researchers at the National Human Genome Research Institute identify the genes, they can begin to look for new medications, new behavioral interventions or new combinations of both.
Dr. William Gahl, clinical director at the National Human Genome Research Institute (NHGRI), gave the honorary Samuel Pruzansky Memorial Lecture on March 23 in Phoenix for the March of Dimes Clinical Genetics Conference. Although he's given dozens of lectures around the world about helping patients with undiagnosed diseases since establishing the Undiagnosed Diseases Program in 2008, this particular talk was truly inspirational.
Newly identified genes associated with Erdheim-Chester disease (ECD), an ultra-rare disease, are also linked to cancer, according to a new study by NHGRI researchers. Thus, ECD should be considered a type of cancer and treated by oncologists. A new clinical trial - enrolling ECD patients now - will test the use of the drugs dabrafenib and trametinib. Findings were published in Blood Advances.
Researchers with NHGRI and their collaborators have successfully used facial recognition software to diagnose DiGeorge Syndrome, a rare, genetic disease in Africans, Asians and Latin Americans. This is the newest addition to the Atlas of Human Malformations in Diverse Populations launched last year. The study was published March 23, 2017, in the American Journal of Medical Genetics.
On March 3, 2017, in honor of Rare Disease Day, experts from the Undiagnosed Diseases Network (UDN) turned to Reddit to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). These rare disease clinical and research experts have joined forces to solve the world's most challenging medical mysteries. Supported by the NIH Common Fund, UDN uses genome sequencing in the clinic, along with a network of experts, to provide answers for patients and families affected by mysterious conditions. Here's a recap of the event.
NIH and USDA researchers have developed a new technique for reconstructing highly accurate reference genomes and have applied it to the domestic goat. Accurate reference genomes are important for understanding an organism's biology, for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. The study is published today, March 6, 2017, in Nature Genetics.
On February 27, several NHGRI researchers - Anastasia L. Wise, Ph.D., Shawn Burgess, Ph.D., and Brian P. Brooks, M.D., Ph.D.- will highlight rare disease research that could benefit affected patients, but also provide insight into more common disorders. They will underline this important relationship in advance of Rare Disease Day at NIH, a day-long symposium that is part of a global effort to raise awareness of rare diseases.
Newly identified genes and genetic pathways in primary melanoma - a type of skin cancer - could give researchers new targets for developing new personalized treatments for melanoma, and potentially other cancers. Learning how the genes are expressed - turned on or off - could be used in the future to predict how and when the cancer cells will spread to other parts of the body and how fast they will grow. Read the study in the February 6, 2017, online issue of Pigment Cell and Melanoma Research
Last Updated: November 27, 2018