3. Clinical Differentials with Hallmarks
Let's review the basics...
- Genetics fact sheet -- How do genes work? What is genetic mapping, chromosome analysis, and karyotypes?
- Newborn screening overview, screening facts, possible disorders being screened and state-by-state programs
- Basic of genetic testing
- Glossary of genetic terms
- What is the Human Genome Project? Learm more about the project here and check out the Project's Info Archive. Finally, learn more about the initial sequencing and analysis of the human genome with International Human Genome Sequencing Consortium (2010).
Clark (2013) wrote a nice, clear article on how to think about genetic disorders. Basically, there are categories -- chromosome abnormalities, single gene defects, multifactorial problems and teratogenic problems that may cause these coding issues.
1. Chromosome Abnormalities
3. Multifactorial problems that do not follow a single gene or chromosomal abnormality pattern (e.g. heart defects, cleft lip or cleft palate, and neural tube defects)
4. Teratogenic problems are cause by a number of medications (FDA categories and guidelines for expecting moms), alcohol, radiation, lead poisoning, and very specific infections (e.g. Rubella and Congenital Rubella Syndrome).
2. Single Gene Defects
3. Clinical Differential w/ Hallmark Characteristics
And for those of you that are more into differential charts, here is the listing of each of these conditions with their genetic changes and their clinical characteristics/hallmarks...
FAQs: What does it mean when someone mentions...
4. Pt Ed + Resources
- American College of Medical Genetics and Genomics
- Baby First Test
- California Children's Services (CCS)
- Human Genome Project
- Genetic Alliance
- Genetic and Rare Diseases Information Center (GARD, by NIH)
- National Human Genome Research Institute (NHGRI)
- NIH Fact Sheets
- NIH GENETIC HOME REFERENCE
- Online Mendelian Inheritance in Man (OMIM) (JHU, NIH)
- Office of Rare Disease Research (NIH)
Family Support Organizations
National support networks
- Family Voices: family support for children with special health care needs; provides advocacy, research updates, etc.
- Immune Deficiency Foundation
- March of Dimes
- Parent-to-Parent: peer parental support for families with children whom have special health care needs; site has the functionality to search local programs state-by-state as well.
- Parent Technical Assistance Center Network
- Save Babies Through Screening Foundation
- CF: Cystic Fibrosis Foundation, Cochrane Cystic Fibrosis and Genetic Disorders Group
- Galactosemia: Galactosemia Foundation
- Mitochondrial Dz: The United Mitochondrial Disease Foundation
- Neurofibromatosis: Neurofibromatosis Network
- PKU: Children's PKU Network, National PKU Alliance
- Sickle Cell: American Sickle Cell Anemia Association (United Way), Sickle Cell Disease Association of America, Inc.
- SIDS: SIDS Resources, SIDS Network