Newborn Screening for Rare Diseases

Newborn Screening for Rare Diseases

Rare diseases are chronic and life-threatening .75% of rare diseases affect children. Many reasons may cause rare diseases in children some of them are single gene, multifactorial, chromosomal or non-genetic. Rare diseases include rare cancers such as childhood cancers and some other well-known conditions such as cystic fibrosis and Huntington's disease, Genetic disorder, Metabolic disorder, Cutaneous condition, Batten disease, Child syndrome, Sanfilippo syndrome, Moebius syndrome, Niemann–Pick disease, Ichthyosis, Hematologic disease, Bone disease, Periodic fever syndrome and Hunter syndrome.

As group rare diseases are not uncommon. When taken together, they affect a large amount of people. 3.5 million people in the UK are affected by rare diseases among them 75 per cent are children. More than 6,000 rare diseases have been identified in children. Over recent years, rare diseases have been recognized as a considerable global health burden. Children diagnosed with any of the diseases would benefit from a palliative care approach. They are approximately 7,000 different rare diseases and disorders affecting more than 300 million people worldwide. Also certain disorders affect children primarily, necessitating drug testing on appropriately aged subjects.

Over the past 15 years, we have evolved from a view that we must protect children from research to a view that we must protect children through research. Doctors and researchers are always on the way to look out for new diseases and ways to treat them. Mostly rare diseases are fatal. Research is often limited in such cases due to the limited number of patients. While treatments are sometimes effective for these conditions, but some won’t be diagnosed in time for the treatments to be effective.

Today's Blog post release unravels the upcoming “22^nd Global Summit on Pediatrics, Neonatology & Primary Care” which will be held on 11th and 12th November 2018 at Dubai, UAE. This event is designed for pediatricians, family physicians, primary care practitioners, nurse practitioners, nurses and allied health professionals who care for infants, children and adolescents.

For more details about the conference visit our website: https://neonatalcare.pediatricsconferences.com/