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At least 253 records · Page 14Linked to original sources
PubMed2006

RAMEDIS: the rare metabolic diseases database.

UNLABELLED: The RAMEDIS system is a platform-independent, web-based information system for rare diseases based on individual case reports. It was developed in close cooperation with clinical partners and collects information on rare metabolic diseases in extensive detail (e.g. symptoms, laboratory findings, therapy and genetic data). This combination of clinical and genetic data enables the analysis of genotype-phenotype correlations. By using largely standardised medical terms and conditions, the contents of the database are easy to compare and analyse. In addition, a convenient graphical user interface is provided by every common web browser. RAMEDIS supports an extendable number of different genetic diseases and enables cooperative studies. Furthermore, use of RAMEDIS should lead to advances in epidemiology, integration of molecular and clinical data, and generation of rules for therapeutic intervention and identification of new diseases. AVAILABILITY: RAMEDIS is available from http://www.ramedis.de CONTACT: Thoralf Töpel (thoralf.toepel@uni-bielefeld.de).

Computational Biology↗
PubMed2006

Internet resources related to drug action and human response: a review.

It has been demonstrated that numerous proteins interact with drugs or their metabolites. Knowledge of these proteins is necessary to understand the mechanisms of drug action and human response. Progress in modern genetics, molecular biology, biochemistry and pharmacology is generating a comprehensive mechanistic understanding of drug-target interaction on the molecular level. This is valuable for researchers and pharmaceutical companies in their efforts to improve the efficacy of existing drugs and to discover new ones. Most recently, the integration of a systems biology approach into drug discovery processes calls for more holistic knowledge and easily accessible resources of the proteins that are important in drug action and human response. We have reviewed many publicly accessible internet resources of these proteins, according to their roles in drug action and human response, such as therapeutic effect, adverse reaction, absorption, distribution, metabolism and excretion.

Adverse Drug Reaction Reporting Systems↗
PubMed2006

Combinations of single nucleotide polymorphisms in neuroendocrine effector and receptor genes predict chronic fatigue syndrome.

OBJECTIVE: This paper asks whether the presence of chronic fatigue syndrome (CFS) can be more accurately predicted from single nucleotide polymorphism (SNP) profiles than would occur by chance. METHODS: Specifically, given SNP profiles for 43 CFS patients, together with 58 controls, we used an enumerative search to identify an ensemble of conjunctive rules that predict whether a patient has CFS. RESULTS: The accuracy of the rules reached 76.3%, with the highest accuracy rules yielding 49 true negatives, 15 false negatives, 28 true positives and nine false positives (odds ratio [OR] 8.94, p < 0.0001). Analysis of the SNPs used most frequently in the overall ensemble of rules gave rise to a list of 'most important SNPs', which was not identical to the list of 'most differentiating SNPs' that one would calculate via studying each SNP independently. The top three genes containing the SNPs accounting for the highest accumulated importances were neuronal tryptophan hydroxylase (TPH2), catechol-O-methyltransferase (COMT) and nuclear receptor subfamily 3, group C, member 1 glucocorticoid receptor (NR3C1). CONCLUSION: The fact that only 28 out of several million possible SNPs predict whether a person has CFS with 76% accuracy indicates that CFS has a genetic component that may help to explain some aspects of the illness.

Algorithms↗
PubMed2006

EUDRAGENE: European collaboration to establish a case-control DNA collection for studying the genetic basis of adverse drug reactions.

Type B adverse drug reactions (ADRs) are often serious, limit the usefulness of drugs that are otherwise effective, and increase the risks of drug development as they often lead to postmarketing withdrawal. There is evidence that susceptibility to at least some Type B ADRs is under strong genetic influence. Identifying genes in which variation influences susceptibility has obvious practical value for genetic testing and might also make it easier to screen molecules likely to cause ADRs at an early stage of the drug development process. Research in this area is hampered by the lack of a resource in which to study genetic determinants of susceptibility to Type B ADRs. As serious Type B ADRs are rare, case-control designs are the most frequently-used approach. The EUDRAGENE collaboration seeks to develop a resource using an international collaboration. This will provide a basis for adverse drug susceptibility genome association-wide studies using tag single nucleotide polymorphisms, or a direct approach using putative functional polymorphisms.

Adverse Drug Reaction Reporting Systems↗
PubMed2001

From data to knowledge--the Visible Human Project continues.

The U. S. National Library of Medicine (NLM) has long been a world leader in the archiving and distribution of the print-based images of biology and medicine. NLM has also been a pioneer in the use of computer systems to encode and distribute textual knowledge of the life sciences. NLM's Long Range Planning effort of 1985-86 foresaw a coming era where NLM's Bibliographic and factual database services would be complemented by libraries of digital images, distributed over high speed computer networks. The NLM Planning Panel on Electronic Imaging recommended that NLM should undertake the building a digital image library consisting of computerized tomography (CT) and magnetic resonance (MR) images, and cryosection images of a representative, carefully selected and prepared male and female cadaver--the "Visible Human Project ." The male and female Visible Human data sets are now being made available through a license agreement with the NLM. The data sets are supporting a wide range of educational, diagnostic, treatment planning, and commercial uses. The NLM, in partnership with other U.S. government research agencies has begun a three prong effort within the Visible Human Project to address: the creation of a new online, interactive, digital head-and-neck atlas; the development of a tool kit of computational programs capable of automatically performing many of the basic data handling functions required for using Visible Human data in applications; and the improved resolution of future Visible Human data sets through the reduction of the anatomical artifacts introduced by the methods used to stabilize and section the anatomical materials and the development of staining and wide-spectrum methods for increasing tissue contrast.

Anatomy, Artistic↗