With this Product Spotlight, we are instituting a new feature that looks at “Rare Diseases”. This designation is not an arbitrary one. In order to qualify as a rare disease, its incidence rate must affect less than 200,000 people as established by the Congress of the United States with the Orphan Drug Act of 1983.1 In fact, the legislation, in addition to creating the definition, was also instrumental in changing the entire discussion and economy around orphan drug research in the US. For example, during the ten years prior to its implementation, less than ten treatments were approved. However, since1983, the Office of Orphan Products Development (OOPD), which incentivizes research on what were previously untenable developmental costs, has been integral to bringing more than 400 new treatments to market. 1
There are believed to be upwards as many as 7,000 rare diseases according to the NIH. Within their numerous centers, one, the National Center for Advancing Translational Sciences (NCATS), studies commonalities found among populations and diseases through collaborative studies.1 From that, the following programs for rare diseases have been made available:
- Rare Diseases Clinical Research Network (RDCRN)
- Therapeutics for Rare and Neglected Diseases (TRND)
- Rare Diseases Registry Program (RaDaR)
- Genetic and Rare Diseases Information Center (GARD)
Of course, with increased and vigorous reporting, collaborations, computer models, and even communications, the designations and prevalence of rare, and in fact, all diseases may change over time.
Our inaugural Rare Disease Journal outlines one of these officially designated rare diseases, BBS (Bardet Biedl Syndrome), which is thought to affect approximately 1 in 250,000 worldwide. About 3,000 are believed to be affected in the US and Canada, if the ratios are correct.2
The rare genetic disorder is marked by retinal degeneration, obesity, reduced kidney function, polydactyly (extra digits of the hands or feet) and many other characteristics. Although more than 20 genes have been associated with BBS, the underlying cause regardless of gene is malfunction of primary cilia, a key component of cellular communication. BBS is thus categorized as a ciliopathy, or a disease of the cilia.2
There have been over eighteen primary and secondary symptoms categorized by UK researcher Dr. Philip Beales, with a diagnosis requiring four primary symptoms or three primary and at least two of the secondary characteristics.2
Peptides International has services applicable to this disease, including custom peptide synthesis with post-translational modification, along with a range of related products, some of which are listed below.
RL4D is a developmentally regulated member of the ADP-ribosylation factor/ARF-like protein (ARF/ARL) family of Ras-related GTPases. Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). ARL4D takes part in membrane-associated intracellular trafficking. Mutations in this gene is linked to Bardet-Biedl syndrome (BBS).
ARL6 is a member of the ARF family of GTP-binding proteins. ARL6 has a vital part in modulating membrane trafficking and cytoskeletal functions. Mutation in ARL6 is the source of Bardet-Biedl syndrome (BBS3) which is a pleiotropic genetic disorder that causes obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnor-malities and developmental delay.
Leptin Antagonist Triple Mutant Human Recombinant is a single non-glycosylated polypeptide chain containing 146 amino and additional Ala at N-terminus acids and having a molecular weight of 16 kDa, Leptin was mutated, resulting in L39A/D40A/F41A. Leptin Antagonist Triple Mutant Human Recombinant was purified by proprietary chromatographic techniques.
Leptin tA Human
Leucine Zipper Transcription Factor-Like 1, also known as LZTFL1, is a ubiquitously expressed protein which localizes to the cytoplasm. LZTFL1 interacts with Bardet-Biedl Syndrome proteins (BBS) and during its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in LZTFL1 cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized partly by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. LZTFL1 also acts as a tumor suppressor; possibly by interacting with E-cadherin as well as the actin cytoskeleton and in this manner regulating the transition of epithelial cells to mesenchymal cells.