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News Release

Decades after rare disease diagnosis, family and physician hail genomic breakthrough

In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.

… to have weak facial muscles, cleft palates and curvature of the spine. Nor did they know what produced the phlegm that … misdiagnosed the children with Moebius Syndrome, a disease characterized by facial paralysis. "My sister Tonya … Thirty-five years later, researchers have identified the genomic mutations responsible for CFZS (<a …

15 Ways Genomics Influences Our World

Genome Editing

Genomics is altering a genome with unparalleled efficiency and precision.

… we have decoded (that is, read out) the genome sequence of an organism, a logical next step would be to "edit" that genome - perhaps to cure a genetic disease or to alter the a trait in a plant or animal. … introduce mutations at the wrong sites rather than the genomic location being targeted. Many scientists are working …

News Release

NIH grants aim to decipher the language of gene regulation

NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.

… Steven Benowitz … The National Institutes of Health has awarded grants of more than $28 million aimed … Such knowledge is important for defining the role of genomic differences in human health and disease." With these … elements is critical for understanding the genomic basis of disease," Dr. Pazin said. "We do not have a good way …

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 … only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to … … What is Sickle Cell Disease? National Institutes of Health (NIH) About Sickle Cell Disease Centers for …

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.

… Steven Benowitz … The National Institutes of Health (NIH) recently awarded approximately $6.8 million … explore how specific genes and their variations may cause disease in UDN patients. Finally, a one-year grant supports a … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …

News Release

eMERGE publications highlight large-scale genomics research using electronic medical records

20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.

… Steven Benowitz … A series of nearly 20 papers published online in 2014 highlights … (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in …

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.

… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to bring … 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 …

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.

… Jeannine Mjoseth … Researchers with the National Institutes of Health Undiagnosed Disease Program (UDP) have developed a powerful new toolset … we developed significantly narrows down the number of genomic changes that could be responsible for an individual's …

News Release

Diverse genome sequences provide a powerful tool for studying risk of heart disease

In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.

… Prabarna Ganguly, Ph.D. … Study of millions of people from diverse ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was …

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 … oxygen delivery. Little is known about why the severity of these symptoms varies throughout the course of a lifetime, …