NIH’S undiagnosed diseases network introduced an online application portal

September 18, 2015

The Undiagnosed Diseases Network of the NIH has a “new online patient application portal that will allow patients who suffer from conditions that specialists have been unsuccessful at diagnosing to apply to all the program’s participating clinical sites, rather than applying to sites one-by-one.” The Undiagnosed Diseases Network (UDN) Gateway is planned to “replace the paper-and-mail application process that was formerly used.”  In addition to the Gateway, the UDN has added six additional clinical sites that will now cover a wider geographic range, which will each accept 50 new patients per year by 2017. These additional clinical sites are:

Baylor College of Medicine, Houston

Duke Medical Center, Durham, North Carolina, with Columbia University, New York City

Harvard Teaching Hospitals (Brigham and Women's Hospital, Boston Children's Hospital, Massachusetts General Hospital), Boston

Stanford Medical Center, Stanford, California

University of California at Los Angeles Medical Center

Vanderbilt University Medical Center, Nashville, Tennessee

Additionally, two DNA sequencing facilities have been added to the UDN network.

Find out more →

Who should decide? The Complex Ethics of Pediatric Genome Sequencing

September 16, 2015

A working group of the Clinical Sequencing Exploratory Research (CSER) Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies, interpreting results and disclosing findings. CSER was established to speed the integration of genomics into clinical practice and is funded by NHGRI and the National Cancer Institute, both part of NIH. The study was published Sept. 14, 2015, in the advanced online issue of Pediatrics. 

Read more at source →

Genetics may open door to new treatments of mental disorders

August 17, 2015

The first of many studies identified five major mental illnesses that could be traced to the same gene variations. Schizophrenia, bipolar disorder, depression, attention deficit hyperactivity disorder (ADHD) and autism all share variations on four chromosomes. Genome wide association studies (GWAS) were able to determine that these genetic variations explained between 17 – 28% of the risk of getting any of these illnesses. On the other hand, twin studies showed 81 percent heritability in schizophrenia. Clearly, a lot more is going on biologically than we know about.  

Read more at source →

The Office of Public Health Genomics just launched the Public Health Genomics Knowledge Base

June 4, 2015

The Public Health Genomics database is an online, searchable database of published scientific literature, CDC resources, and other material that addresses the translation of genomic discoveries into improved health care and disease prevention. The Knowledge Base is curated by CDC staff and is regularly updated to reflect ongoing developments in the field. This compendium of databases can be searched for genomics-related information on any specific topic. 

The following databases are included in the Knowledge Base

·         Discoveries and Insights Database: published scientific literature and popular press articles on current newsworthy genomics discoveries and applications

·         Health Impact Weekly Scan Database: published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health. The focus is on non-communicable diseases across the life span and features information on topics that include reproductive health, birth defects, newborn screening, chronic diseases such as cancer and diabetes, pharmacogenomics, and family health history, guidelines and recommendations.

·         Pathogen Advanced Molecular Detection Scan Database: published scientific literature, popular press articles, tools, and databases on the emerging role of pathogen genomics and host-pathogen interactions in infectious disease control and prevention. It includes information on methods, evolution and pathogenicity, detection and diagnosis, outbreaks, epidemiology and transmission, antimicrobials, and vaccines and host-pathogen interactions.

·         Guidelines Database: current guidelines, policies, and recommendations on genomic research and practice from professional organizations, federal advisory groups, expert panels, and policy groups.

·         Evidence Classification Database: This database contains currently available genetic and genomic tests and family health history, classified into Tiers 1-3 by level of evidence.

·         CDC-Authored Genomics Publication Database: publications on genomics-related topics, and includes articles on infectious diseases, reproductive health, newborn screening, birth defects, developmental disabilities, genetic testing, chronic diseases such as cancer and diabetes, environmental and occupational health, laboratory methods, bioinformatics, and statistical methods.

Public Health Genomic Database →

Researchers detect cancer precursors in blood DNA before disease develops

April 10, 2015

Cost-effective, high throughput technologies used to analyze DNA are uncovering variations in our genetic code. Increasing numbers of these variations, sometimes referred to as mutations, are implicated in disease, including many cancers. With the ability to sequence DNA in the clinic, doctors can more definitively diagnose and predict patients' personal risks for developing cancer, based on the presence of these variants in their DNA. A new study reports on how DNA sequencing techniques can be applied to assess blood cancer risk in pre-symptomatic people. DNA sequencing, used in this way, shows promise as a tool to identify cancer risk variations, which ultimately could serve as life-saving pre-clinical indicators of blood cancer and other diseases. Genovese G, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med, 371(26):2477-87. 2014.  

Read more at source →

From The Genomics Landscape: Genomics in Africa

March 3, 2015

Roughly 100,000 years ago, humans migrated out of Africa and started to populate the globe. Although the human species is now associated with significant phenotypic variation, all humans have a genetic origin in Africa. The genomes of people currently living in Africa are more varied than those of people living anywhere else on Earth. Studying the genomes of Africans thus offers important opportunities to characterize and understand genomic variation. Despite this, Africans are largely underrepresented as both research participants and scientists in genetics and genomics.

March Genomics Landscape (pdf) →

Ancient in dog years: NHGRI/Smithsonian to sequence what may be North America's oldest dog relics

From left: Elaine Ostrander (NHGRI), Klaus-Peter Koepfli (National Zoo), Brian Davis (NHGRI), Dennis Stanford (Smithsonian), and Eric Karlins (NHGRI). Photo credit: Brennan Dekker, NHGRI

From left: Elaine Ostrander (NHGRI), Klaus-Peter Koepfli (National Zoo), Brian Davis (NHGRI), Dennis Stanford (Smithsonian), and Eric Karlins (NHGRI). Photo credit: Brennan Dekker, NHGRI

Dr. E. Ostrander's research focuses on the study of genes important in growth regulation, and in particular their impact on diseases that affect canines and humans.  When Smithsonian archeologist Dr. Daniel Stanford attended a talk on canine (dog) genomics by NHGRI's Dr. Elaine Ostrander, he realized the potential of his collection of ancient dog bones to canine genome research. With new sequencing tools and techniques now available - and the complete sequence of the dog genome - both hope to unlock the secrets of this ancient dog DNA, perhaps the oldest in North America.This STUDY with ancient dog bones from the Smithsonian is now in process.

Read more at source →