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What are Rare Diseases and it's common challenges?

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The genetics community has a critical role to play in speeding up rare illness research and helping to improve diagnosis and treatment. While advances in sequencing technology and machine learning approaches have improved diagnostic success, more concerted efforts are required to progress toward effective medicines or perhaps solutions for these essential, yet often ignored, diseases. More than 300 million individuals worldwide suffer from uncommon diseases, and for more than 90% of them, there are no licenced treatments. Because genetic causes roughly 80% of uncommon disorders, new developments in genomic sequencing technologies and molecular gene therapies have improved diagnosis and increased therapy options. Unified efforts spanning multiple stakeholders throughout rare illness communities should be supported to ensure that these advances benefit as many patients as feasible in an equitable manner.

What are the STI symptoms you should not ignore?

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Sexually transmitted infections are disseminated largely through sexual interaction of various kinds. Use a barrier method of protection, such as a condom, throughout each form of sexual interaction, including oral sex, to lower your chance of developing a STI. Some STIs can be passed through the mouth and cause a sore throat. One of the most common STIs is gonorrhoea , popularly known as "the clap." The bacteria Neisseria gonorrhoeae causes gonorrhoea, which is transferred through sexual contact. The genitals, as well as the mouth and throat, can be affected by gonorrhoea. If left untreated, gonorrhoea can lead to miscarriage, infertility, septic arthritis , and blindness, among other things. Males and females experience gonorrhoea symptoms in different ways. For females, gonorrhea may cause:   Vaginal discharge Burning or pain while urinating (dysuria) Vaginal itchiness Bleeding between periods Lower abdominal pain or discomfort Painful sex For males, gonorrhea may cause: ...

What is the importance Specialty Drugs and Patients With Rare Diseases ?

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 A rising number of health insurance brokers understand the importance of developing new and successful solutions to deal with the issues of managing speciality medications, which treat complex, chronic, or rare ailments and require specific administration or handling. Significantly, the cost of a single speciality drug used on a long-term basis is three times that of a Medicare patient's typical annual income. Many older folks are forced to choose between taking their medications and buying groceries and paying their rent as a result of this. For high-cost drugs , specialty pharmacies are a trustworthy distribution method. They provide patients with convenience and lower costs while also optimising insurance reimbursements from firms that cover the pharmaceuticals they consume. Specialty medications currently account for around 17% of the average employer's total pharmacy costs. Over the next five years, experts expect that specialty medicine costs would rise by 21 percent to...

What is Pediatric Rare Diseases?

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The majority of uncommon diseases affect children, with the majority of them having a genetic reason for their illness. However, even with today's technology and understanding, making a molecular diagnosis can be difficult. Pediatric genomics is a young but quickly growing discipline that aims to solve this problem by merging next-generation sequencing technologies into research and clinical procedures, particularly whole-exome and whole- genome sequencing .  This multidisciplinary approach, combined with the growing availability of data on population genetic variation, has already resulted in a higher incidence of causal gene identification and improved detection of rare pediatric diseases. Importantly, a greater understanding of the genetic basis of uncommon disease translates to more accurate prognosis, care, surveillance, and genetic advice for affected families; it stimulates research into new medicines; and it encourages research into new therapeutics.