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NHGRI researchers help identify new metabolic disorder caused by faulty gene expression

Deana and MaxNational Human Genome Research Institute (NHGRI) researchers, participating in an international study with colleagues at the University of Colorado in Denver, McGill University in Montreal, Canada, and University Children’s Hospital in Zurich, Switzerland have described a new disease involving a defect in the body’s ability to process vitamin B12, or cobalamin. The rare inherited disorder that has been only been found in boys, can cause severe neurological symptoms, including developmental delay, epilepsy, and brain malformations. (more)

Alyssa’s angels: one family’s partnership with NIH research

Group photoFor 15-year-old Alyssa Meisel, juggling schoolwork, horseback riding, softball and piano is easy. Managing her methylmalonic acidemia (MMA) – a rare metabolic condition that limits her body’s ability to metabolize protein – presents a greater challenge that she faces daily with the support of her family and her doctors. (more)

Study suggests the gene variants that cause rare disorder are a risk factor for common form of dementia

Lewy bodyAccording to a recent study by an international research team that included the National Human Genome Research Institute (NHGRI), people who carry gene alterations that cause Gaucher disease – a rare disease in which a fatty substance (lipid) accumulates in cells and certain organs – also have an elevated risk for Parkinson’s disease and dementia with Lewy bodies (DLB), one of the most common types of progressive dementia. (more)

Study finds regions of the human genome in people of African ancestry associated with BMI

Woman on a scaleA large study by a consortium that includes researchers from the National Human Genome Research Institute’s Center for Research on Genomics and Global Health has identified genome regions associated with body-mass index (BMI) among people with African ancestry. The study appears in the April 12, 2013 advance online issue of Nature Genetics. (more)

Expanding the limits of modern medicine

Dunham, Michelle and three-year-old Lilly Aurelius.
Photo used with permission, by Anne StaveleyIn recognition of Rare Disease Day, read a story of one patient’s medical odyssey. Dunham Aurelius became patient 37 in the NIH Undiagnosed Diseases Program. The NIH Common Fund is currently implementing an initiative to expand the work of diagnosing difficult cases like Aurelius’ to a network of clinical sites around the country. (more)

NHGRI researchers provide insights on the genetics of dog skull variation

Dog skulls Breeding has fostered remarkable craniofacial diversity in the domestic dog – from the elongated snouts of Collies to the compressed faces of Pugs. NHGRI researchers review the biology and genetics of canine skull formation in an article appearing in the journal Genetics. (more)

NIH researchers link enzyme deficiency with faulty DNA replication and cancer

DNA replicationNIH researchers have discovered a cancer-causing flaw that can occur when ATAD5, one of many enzymes in the replication process, is deficient. The defect causes DNA replication to stall and the normal precision of replication proteins to become chaotic. The study appeared in the Dec. 31, 2012, advance online issue of the Journal of Cell Biology. (more)


NHGRI’s Intramural Training Office challenges young scientists to imagine their future

Read moreEarly career scientists in the National Human Genome Research Institute intramural training program (NHGRI) say that their biggest concern is a challenging job market and what lies ahead for them after their time at NHGRI. To address these worries, NHGRI’s Intramural Training Office convened faculty and trainees at the Bolger Center in picturesque Potomac, Maryland, for a one-day meeting. (more)

Bioluminescent comb jellies begin to shed light on the evolution of vision

Ctenophone Bioluminescent sea creatures that emit and detect light are providing clues to the evolution of sight and may, in time, shed light on our understanding of eye diseases. Research published in the December 21 issue of BMC Biology has pinpointed the genes involved in making and sensing light in this organism. (more)


Same gene, different alteration causes another rare, autoinflammatory disease

Read moreNIH researchers have found a second, ultra-rare autoinflammatory disease caused by the same gene that just 10 months ago they attributed to a similar disease discovery. Both diseases cause ultra-rare autoinflammatory conditions, but the involved gene, PLCG2, is altered in different ways and each disease presents distinct symptoms. (more)

San Francisco hosts 62nd annual meeting of ASHG, Nov. 6-10

Read moreThe American Society for Human Genetics (ASHG) convenes in San Francisco Nov. 6-10, 2012, will feature National Human Genome Research Institute research, with presentions on gene discovery in human genetics, progress on gene therapy, cancer genetics, clinical and social implications of genomics and more. (more)

FDA approves crystal-dissolving eye drops, a major milestone for NIH rare disease researchers

EyesRead the heroic story about how an experimental eye-drop solution containing a drug called cysteamine eliminates the the painful and destructive crystalline shards in the eyes of patients suffering from a rare, inherited condition called nephropathic cystinosis. Learn how the eyedrop went from clinical trial, to FDA approval and availability for use on Oct. 3, 2012, The research was spearheaded by NHGRI Clinical Director, William Gahl, M.D., Ph.D. (more)

CIDR quenches scientists’ thirst for high quality genotyping and sequencing services

ResearcherThe Center for Inherited Disease Research (CIDR) provides billions of high-quality genotypes and DNA sequences by the gigabase to help investigators identify genes that contribute to human health and disease. CIDR recently celebrated its 15-year anniversary with a 1 million, five-year renewal contract. Learn more about this NHGRI-managed program. (more)

Genomics in Medicine Lecture Series resumes

Dan KastnerOn September 7, NHGRI scientific director and inflammatory disease expert Dan Kastner, M.D., begins the 2012-2013 Genomics in Medicine Lecture Series with Horror Autoinflammaticus: Adventures in the Genomics of Inflammationas. The monthly series, begun in December 2011, aims to enhance how we understand the intersection between genomics and medicine. (more)

Tracking infectious outbreaks by their genomes

Drs. Segre and PalmoreLast year, the NIH Clinical Center dealt with an outbreak of antibiotic resistant . Read the full story of how NHGRI and genome sequencing helped discover how the microbe had spread and identified unexpected modes of transmission. The report is published in the August 22, 2012 online edition of Science Translational Medicine. (more)

NIH researchers use brain imaging to understand a genetic link between Parkinson’s and a rare disease

PET scanA rare metabolic disorder is helping researchers at the National Human Genome Research Institute (NHGRI) and the National Institute of Mental Health (NIMH) uncover new clues about the biology underlying Parkinson’s disease. The results of their six-year study, published online in the July 30, 2012, issue of the journal Brain, may explain how people with alterations in the gene involved in Gaucher disease are more likely to develop Parkinson’s – and provide a window to potential inner workings of Parkinson’s itself. (more)

NHGRI finds “off” switch that underlies rare genetic disease affecting boys

Jennifer Cannons, Roseanne Zhao, Pam SchwartzbergA rare, genetic disease found only in boys is helping researchers at the National Human Genome Research Institute (NHGRI) unlock secrets about how the body fends off infection. Studying a mouse model of an inherited disease called X-linked lymphoproliferative syndrome (XLP), they have discovered new details explaining how a missing protein can disrupt communication between two important types of white blood cells, T and B cells, which play key roles in immunity. (more)

NHGRI researchers find susceptibility mutations in patients with no cancer history

Letters of A T C G with human silhouettesNHGRI researchers report in the American Journal of Human Genetics that gene variants in a patient’s DNA that are classified as incidental or secondary gene variants are medically important. They identified cancer susceptibility mutations in DNA sequence collected as part of an NIH study called ClinSeqtm. (more)

Study delivers new insights about effects of metabolic disorder on cognition and learning

BabyThe baby seems normal at birth, but as he or she starts to eat the vomiting begins. Other symptoms might include dehydration, panting, lethargy, failure to thriveand then it gets really bad: seizures, encephalopathy and stroke. If the disease isn’t picked up by a newborn screening test – usually a heel stick that produces a drop of blood for testing up to 40 disorders – terrified parents present their deteriorating baby for answers. (more)

High-throughput screening finds surprising properties for antioxidants

Robotic armsAntioxidants have long been thought to have anti-aging properties. The story now appears to be much more complicated. A National Institutes of Health research team has demonstrated that some anti-oxidants damage DNA, yet may be good for treating cancer. The findings are published today, March 19th, in the Proceedings of the National Academy of Sciences (more)

Bert Vogelstein considers the cancer genome at 10th annual NHGRI Trent Lectureship

Dr. VogelsteinResearchers have published 852 studies describing the genomes of 23 different cancers over the past half century and a number of things have become clear. Though every cancer is different, tumors tend to have a very similar number of gene mutations, Bert Vogelstein, M.D., told a National Institutes of Health (NIH) audience of more than 500 attending the 10th annual Jeffrey M. Trent Lectureship in Cancer Research on Feb. 29, 2012. (more)

Researchers use genomics to differentiate two ovarian cancer subtypes

Serous adenocarcinoma ovarian cancer subtypeResearchers from NHGRI’s Genome Technology Branch have distinguished among particular ovarian cancer subtypes based on signals that turn a gene on or off, a process known as DNA methylation. The findings, published in the March 5, 2012, issue of PLoS One, could lead to the precise classification of ovarian cancer tumors and improve treatment strategies. (more)

Rare lethal disorder traced to variant of the PIGA gene on the X chromosome

chromosomes Next-generation genomic sequencing – technologies that streamline the processing and analysis of DNA – are well suited to rare disease discovery, as a recent study led by National Human Genome Research Institute (NHGRI) researchers demonstrates. (more)

Source: NHGRI – Genomics