Francis S. Collins
A5068242165- Genetic Associations and Epidemiology
- Pancreatic function and diabetes
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
- Nuclear Structure and Function
- Neuroendocrine Tumor Research Advances
- Neurofibromatosis and Schwannoma Cases
- RNA Research and Splicing
- Neuroblastoma Research and Treatments
- Cystic Fibrosis Research Advances
- CRISPR and Genetic Engineering
- BRCA gene mutations in cancer
- Nutrition, Genetics, and Disease
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Genetic and phenotypic traits in livestock
- Gene expression and cancer classification
- Adipose Tissue and Metabolism
- Cancer-related molecular mechanisms research
- DNA Repair Mechanisms
- Metabolism, Diabetes, and Cancer
- Genetics, Bioinformatics, and Biomedical Research
National Human Genome Research Institute
2016-2025
National Institutes of Health
2016-2025
National Institute on Deafness and Other Communication Disorders
2023
National Institute of Neurological Disorders and Stroke
2023
National Institute on Aging
2023
National Center for Complementary and Integrative Health
2023
Institute on Aging
2023
John F. Kennedy Center for the Performing Arts
2023
Executive Office of the President
2023
The White House
2023
Overlapping complementary DNA clones were isolated from epithelial cell libraries with a genomic segment containing portion of the putative cystic fibrosis (CF) locus, which is on chromosome 7. Transcripts, approximately 6500 nucleotides in size, detectable tissues affected patients CF. The predicted protein consists two similar motifs, each (i) domain having properties consistent membrane association and (ii) believed to be involved ATP (adenosine triphosphate) binding. A deletion three...
We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics trait/disease-associated SNPs (TASs). Reported TASs were common [median risk allele frequency 36%, interquartile range (IQR) 21%−53%] and associated with modest effect sizes odds ratio (OR) 1.33, IQR 1.20–1.61]. Among 20 annotation sets, reported significantly overrepresented only nonsynonymous sites [OR = 3.9 (2.2−7.0), p 3.5 × 10 −7 ]...
An understanding of the basic defect in inherited disorder cystic fibrosis requires cloning gene and definition its protein product. In absence direct functional information, chromosomal map position is a guide for locating gene. Chromosome walking jumping complementary DNA hybridization were used to isolate sequences, encompassing more than 500,000 base pairs, from region on long arm human chromosome 7. Several transcribed sequences conserved segments identified this cloned region. One...
A gene, ATM , that is mutated in the autosomal recessive disorder ataxia telangiectasia (AT) was identified by positional cloning on chromosome 11q22-23. AT characterized cerebellar degeneration, immunodeficiency, chromosomal instability, cancer predisposition, radiation sensitivity, and cell cycle abnormalities. The disease genetically heterogeneous, with four complementation groups have been suspected to represent different genes. which has a transcript of 12 kilobases, found be patients...
Identifying the genetic variants that increase risk of type 2 diabetes (T2D) in humans has been a formidable challenge. Adopting genome-wide association strategy, we genotyped 1161 Finnish T2D cases and 1174 normal glucose-tolerant (NGT) controls with >315,000 single-nucleotide polymorphisms (SNPs) imputed genotypes for an additional >2 million autosomal SNPs. We carried out analysis these SNPs to identify predispose T2D, compared our results two similar studies, 80 1215 1258 NGT controls....
Multiple endocrine neoplasia–type 1 (MEN1) is an autosomal dominant familial cancer syndrome characterized by tumors in parathyroids, enteropancreatic tissues, and the anterior pituitary. DNA sequencing from a previously identified minimal interval on chromosome 11q13 several candidate genes, one of which contained 12 different frameshift, nonsense, missense, in-frame deletion mutations 14 probands 15 families. The MEN1 gene contains 10 exons encodes ubiquitously expressed 2.8-kilobase...
Major investments in basic science have created an opportunity for significant progress clinical medicine. Researchers discovered hundreds of genes that harbor variations contributing to human illness, identified genetic variability patients' responses dozens treatments, and begun target the molecular causes some diseases. In addition, scientists are developing using diagnostic tests based on genetics or other mechanisms better predict targeted therapy. The challenge is deliver benefits this...
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which hampered direct efforts to identify gene. The chromosome location of NF1 gene previously mapped genetically 17q11.2, and data two patients with balanced translocations this region have further narrowed candidate interval. use jumping yeast artificial technology now...
The Human Genome Project has been the first major foray of biological and medical research communities into “big science.” In this Viewpoint, we present some our experiences in organizing managing such a complicated, publicly funded, international effort. We believe that many lessons learned will be applicable to future large-scale projects biology.