Services for Patients with Rare Genetic Diseases in Germany

Claudia Schmidtke1, Peter Kühnen2,3,4, Knut Mai2,5,6,7

  • 1Berlin Center for Rare Diseases, Charité-Universitaetsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt- Universität zu Berlin and Berlin Institute of Health, 13353, Berlin, Germany. claudia.schmidtke@charite.de.

Abstract

No abstract available in PubMed .

Related Concept Videos

What is Genetic Engineering?00:49

What is Genetic Engineering?

Overview
80.2K
Primary Healthcare Services01:30

Primary Healthcare Services

Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...
2.1K
Preventive Healthcare Services01:30

Preventive Healthcare Services

Preventive healthcare services keep people healthy via frequent check-ups, screening, and counseling. They primarily aid in disease prevention rather than treating an acute or chronic illness. Preventive treatment also keeps individuals productive and energetic, allowing them to work well into their retirement years. Examples of preventive care services include:
2.2K
Genetics of Speciation02:16

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.
21.2K
What is Population Genetics?01:25

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
64.7K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.2K