Paragraph with Menu

How can you help our CDG community? Is easy! Share among your social media and other channels the information we make available within this section and website. This raises awareness, accelerates diagnosis, and secures better care and management for our CDG children and adults!

Educating yourself about CDG is vital. The internet can be a great resource. Although, online information and related resources should be viewed with caution. And accurate and reliable information on genetic and rare diseases among the millions of online sources is a difficult task for almost everyone. In addition, many health websites have no guidelines governing the quality of their material. Check their sources and don't rely on one website.

Paragraph without Menu

Check the information we prepared for you at What to look for before trusting a website with CDG information and resources? And, take into consideration that CDG health information evolves. Researchers constantly learn about CDG. 

What can you ask your doctor about accessing trustful websites with information and resources for CDG? 
Before changing or taking any decision about your health care, talk to your doctor. Also, note that websites don't substitute doctor's advice. Your doctor can answer health questions. If something you read online contradicts your doctor's advice, ask them. 

  • Can you recommend trustworthy websites with information and resources for CDG?
  • Which websites are most trustworthy?
  • Should I avoid certain websites?
  • Should I contact you if a health-related website potentially impacts me?

Where to start looking for reliable CDG information and resources?

If you are a person living with CDG, a family member, or caregiver:

  • Healthcare professionals provide the greatest health information. If you have medical questions, see a doctor, or allied health professional. To know where healthcare professionals are, move ahead to our CDG care webpage 
  • CDG Patient Advocacy Groups (PAGs) can also help you.  Check about our CDG community

There are websites that make available or gather information about CDG from reliable research databases to make it easier for you to find the information they seek. This includes:

  • MedlinePlus provides information about several CDGs including the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. Check their section dedicated to Genetic Conditions.
  • Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials, and expert networks. Also, includes Orphanet series of highly-downloaded reports showcasing aggregated data covering topics relevant to all rare diseases that can be consulted here. This includes e.g., List of Research Infrastructures useful to Rare Diseases in Europe, Lists of medicinal products for rare diseases in Europe, and so forth. 
  • GARD (Genetic and Rare Diseases Information Center) is a public health program of the National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS) that provides health information about rare diseases for the public. 
  • NORD’s Rare Disease Database provides brief introductions to several rare conditions. This is written in a way that is much more accessible than looking at academic articles or summaries meant for clinicians. The summaries are put together with the help of medical experts.
  • The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is part of the Rare Diseases Clinical Research Network (RDCRN). RDCRN is an NIH-funded research network of 20 active consortia or research groups—teams of researchers, patients and clinicians—each focused on a group of rare disorders. The network fosters collaborative research among scientists to better understand how particular rare diseases progress and to develop improved approaches for diagnosis and treatment.
  • Wikipedia may also have information about CDG. 
  • Browse the RareList from Global genes for more information on a specific disease, support organizations, related news, events and clinical trials.
  • Disease InfoSearch serves as a resource for curated and crowd sourced disease information to help individuals access quality and credible information. All disease descriptions are from websites including Mayo Clinic, Healthline, NIH sites, Genetic Home References, Orphanet and Web MD or written by Disease InfoSearch and reviewed by a genetic counselor.

If you are a physician or professional concerned with genetic disorders, like genetics researchers, and students in science and medicine, there are online platforms and databases intended for you! Although they are open to the public, and any user seeking information about CDG can access it. The medical or genetic information present in these online sites is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.  Users are always urged to consult with a qualified physician for diagnosis and for answers to personal questions. This includes for example: 

  • PubMed is a free search engine accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. Check a tutorial here. National Center for Complementary and Integrative Health (NCCIH) also provides Searching for Publications About a Complementary Health Approach.
  • OMIM is an online Catalog of Human Genes and Genetic Disorders, with a particular focus on the gene-phenotype relationship.
  • GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. The knowledgebase automatically integrates gene-centric data from ~150 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information.
  • MalaCards is an integrated database of human maladies and their annotations, modeled on the architecture and richness of the popular GeneCards database of human genes.
  • Disease Ontology (DO) is an open-source ontology for the integration of biomedical data that is associated with human disease. (Ontology is  a set of concepts and categories in a subject area or domain that shows their properties and the relations between them- for the integration of biomedical data that is associated with human disease).
  • The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease.
  • UniProtKB/Swiss-Prot is a comprehensive protein sequence knowledgebase that consists of two sections: UniProtKB/Swiss-Prot, which contains manually annotated entries, and UniProtKB/TrEMBL, which contains computer-annotated entries. UniProtKB/Swiss-Prot entries contain information curated by biologists and provide users with cross-links to about 100 external databases and with access to additional information or tools.
  • Microsoft Biomedical Search, a tool for researchers to search the entire biomedical literature using natural language queries rather than keywords.

Read more about Global Health Databases here.
Where should you look for information about clinical research studies and clinical trials? You can check:
 

  • ClinicalTrials.gov provides patients, family members and members of the public with current information about clinical research studies and clinical trials that are enrolling individuals. It was developed by NIH and the Food and Drug Administration (FDA, USA).
  • For information about clinical trials conducted in Europe, check www.clinicaltrialsregister.eu/ 
  • Some current clinical trials also are posted on the following page on the NORD website
  • The CenterWatch, a publishing company, focuses on the industry of clinical research. It has established a web site to help patients identify ongoing clinical trials. Investigative centers, in turn, can use this web site to recruit patients for their studies.

If you are looking for 

  • Reference centers and specialists that know about CDG move to our section.
  • CDG Diagnostic and research laboratories move to our section
  • Guidelines for CDG care and management, we have compiled them here.

We are here to help
Should you need more details please do get in touch with our Team

Ensure that you are up to date, and join our mailing list:

 Subscribe our World CDG magazine

For further learning about CDG, move ahead to our community tailored sections across https://worldcdg.org/  

 

Didn't find what you are looking for?

Your question may help others

Authors

Vanessa Ferreira (CDG & Allies FCT, NOVA University, World CDG Organization and Portuguese Association for CDG).

Revisors

Ana Verde (collaborator at CDG & Allies FCT, NOVA University), Javier López and Kevin Aguirre (research volunteers at CDG & Allies FCT, NOVA University)

Content managers

Marisa Godinho (collaborator at CDG & Allies FCT, NOVA University)

Disclaimer

The Site cannot and does not contain medical or health advice. The information is provided for general informational and educational purposes only and is not a substitute for professional advice.

Accordingly, before taking any actions based upon such information, we encourage you to consult with the appropriate professionals. We do not provide any kind of medical or health advice. The use or reliance of any information contained on this site is solely at your own risk.

Follow Us

Like the World CDG Organization Facebook Page. Share the page on your own timeline and tell your friends to share it.
Follow us on Twitter and LinkedIn.
Subscribe to our Youtube channel and invite your friends to subscribe too.

CDG
Congenital Disorders of Glycosylation
Internet
Information-seeking behavior
Consumer health information
Focus groups
Computer literacy
Information services
Consumer health information
Motivation
Chronic disease
Health information search
Seeking behavior
Information needs
Interview
Online health information seeking
Social media
LinkedIn
Facebook
Twitter
Email

Page modified at Friday, November 25, 2022 - 14:55