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News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening. … In the fall of 2022, Erica felt like she was on top of the … — the presence of cancerous cells. “When she said cancer, I was in complete denial,” said Erica. “I was in the …
Research Training
A one-year fellowship program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism.
… Genetics Residency Program, this program is unparalleled in several respects. It exposes trainees to rare metabolic disorders that might not be seen in a more typical biochemical genetics program and it is one … skills in the care and clinical research of patients with metabolic disorders. The residency program includes many …
News Release
NIH researchers searched for how the body signals the lack of oxygen in melanoma skin cancer.
… Once they have consumed all the oxygen and nutrients in the original tumor site, the cancer cells travel to other parts of the body (metastasize) … Genome Research Institute, a part of NIH. "In addition, changes in how the genes are expressed (turned on or off) …
Educational Resources
BRCA1 and BRCA2 are the first two genes found to be associated with inherited forms of breast cancer.
… found to be associated with inherited forms of breast cancer. … Breast Cancer, Prostate Cancer, Genetic Mutation, Genes, DNA Repair, Family Health … found to be associated with inherited forms of breast cancer and ovarian cancer. People with mutations in either BRCA1 or BRCA2 have a much higher risk for …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
… inherited components of human disease. He is interested in studying genetic mutations that lead to perturbations in normal metabolic pathways and cause disorders such as cancer and birth defects. His laboratory focuses on … A, Scott JM, Swanson DA. A Polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… of Health researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted … research on mice with a rare disease similar to one in humans, hoping their findings may eventually help improve … to kidney failure. MMA patients also suffer from severe metabolic instability, failure to thrive, intellectual and …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous system … does not affect the nervous system and may appear early in life or adulthood. Many people with Type 1 Gaucher disease … within the three Types. Gaucher disease is caused by changes (mutations) in a single gene called GBA . Mutations …
Media Availability
Researchers have created a promising new method to accurately and more comprehensively analyze and interpret DNA sequence information from cancer patients.
… have created a promising new method to accurately and, in some cases, more comprehensively analyze and interpret DNA sequence information from cancer patients. They have developed an algorithm that sorts … to their clinical and biological relevance to a patient's cancer. …
Profile
Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… my last year of high school, I decided to pursue a career in medicine because I found it challenging and stimulating and because I wanted to make a difference in people’s lives. In my home country of Paraguay, you go from high school … Soo: What was it like growing up in Paraguay? Ferreira: I was born and raised in Asunción as …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… who received information about the role of genomics in being overweight viewed the information as threatening and … to take steps to improve their health habits than those in a neutral or angry state. The study, by National … Institutes of Health (NIH) researchers, was published in an advanced online issue of the Annals of Behavioral …