The Role of Patient Organizations in Shaping Research, Health Policies, and Health Services for Rare Genetic Diseases: The Dutch Experience.

In 2023, the genetics scientific community celebrated two special anniversaries: the discovery of the double helix structure of DNA was published in 1953 and in 2003 the Human Genome Project was declared completed and made publicly available. To this day, genetics and genomics research is continuing to evolve at high pace and is identifying a steadily increasing number of genes as causal for distinct genetic diseases. The success story of genetics and genomics would not be complete without taking due account of the role of patient advocacy organizations in this process.

Specialized outpatient clinic for deaf and hard-of-hearing patients in the Netherlands: Lessons learned in an attempt to improve health care.

Rationale, Aims, And Objective: A group of organizations and individuals in the Netherlands collaborated to attempt to improve access to health care and health education for deaf and hard of hearing (DHH) patients in the country. The outcome was the start of a specialized outpatient clinic named PoliDOSH. An independent research group was set up to evaluate the effect of this specialized clinic.

Clinical practice: The approach to the deaf or hard-of-hearing paediatric patient.

Approximately 1 child in 1,000 is deaf or severely hard of hearing from birth, and the prevalence rises to about 1.6 per 1,000 in adolescents. Providing medical care for this group of children poses special challenges for professionals.

Functional outcomes and participation in young adulthood for very preterm and very low birth weight infants: the Dutch Project on Preterm and Small for Gestational Age Infants at 19 years of age.

Objective: Young adults who were born very preterm or with a very low birth weight remain at risk for physical and neurodevelopmental problems and lower academic achievement scores. Data, however, are scarce, hospital based, mostly done in small populations, and need additional confirmation.

Methods: Infants who were born at < 32 weeks of gestation and/or with a birth weight of < 1500 g in The Netherlands in 1983 (Project on Preterm and Small for Gestational Age Infants) were reexamined at age 19.

Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disease in which the active thiamine uptake into cells is disturbed. The molecular basis underlying the disorder has been related to mutations in the gene SLC19A2 on chromosome 1q23.3 that encodes a functional thiamine transporter.