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The growing availability of next-generation sequencing technologies has revolutionized medical genetics, facilitating discovery of causative genes in numerous Mendelian disorders. Nevertheless, there are still many undiagnosed cases. We report the experience of the Genetics Institute at Rambam Health Care Campus in rare disease diagnostics using whole-exome sequencing (WES).
This article was published in the following journal.
Name: Rambam Maimonides medical journal
Adrenocortical carcinoma is a rare and heterogeneous malignancy with poor outcomes. Recent research has suggested that outcomes may be improved by centralization of care in specialist centres. We revi...
Management of sexually transmitted diseases (STDs) and HIV is challenging due to the social stigma attached. We describe the development of a client-friendly STD service in a primary care clinic in Ma...
Chordomas are rare malignant tumors of the spinal column often afflicting the upper cervical spine and sacrum. There are few large single center series on chordomas due to its rarity. The purpose of t...
Primary complement deficiencies are rare diseases.
Puerto Rico suffered a major humanitarian -crisis after Hurricane Maria. We describe our experience with patients with renal disease in an academic medical center.
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpa...
The incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rar...
The objectives of this study is to conduct a multicenter, dual country (United States and Israel), study examining the experience of patients with cancer that were considered by their phys...
The aim of this study is to test whether a parent-focused participatory intervention in addition to gym lessons can enhance preschoolers physical activity compared to gym lessons alone.
Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PC...
A unit of the National Institutes of Health that seeks to catalyze the generation of innovative methods and technologies that will enhance the development, testing, and implementation of diagnostics and therapeutics across a wide range of human diseases and conditions. The Center was established in 2011.
The mission of NCCIH is to define, through rigorous scientific investigation, the usefulness and safety of complementary and integrative health interventions and their roles in improving health and health care. The Center was established in 1999 and was known as NCCAM National Center of Complementary and Alternative Medicine until 2015.
A species in the genus Bornavirus, family BORNAVIRIDAE, causing a rare and usually fatal encephalitic disease in horses and other domestic animals and possibly deer. Its name derives from the city in Saxony where the condition was first described in 1894, but the disease occurs in Europe, N. Africa, and the Near East.
Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
A rare autosomal disorder characterized by numerous encapsulated lipomas on the trunk and extremities. The lipomas are usually not painful but can cause pain when growing. In rare cases, one lipoma can become painful and progress to multiple painful lipomas; it is then referred to as Dercum's Disease Type III
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...