Hemophilia B Adult Gene Therapy Gets First Approval
Hemophilia B Adult Gene Therapy Gets First Approval
The adeno-associated virus vector-based gene therapy Hemgenix (etranacogene dezaparvovec) from UniQure has received FDA approval for the treatment of people with haemophilia B. (congenital Factor IX deficiency).
For more than 20 years, gene therapy has been considered a potential treatment for hemophilia. The prevention and treatment of bleeding episodes can negatively affect a person’s quality of life, according to Peter Marks, MD, PhD, director of the FDA’s Center for Biologics Evaluation and Research, despite breakthroughs in hemophilia therapy. “Today’s approval offers a new therapeutic option for Hemophilia B patients and represents a significant advancement in the development of novel medicines for those suffering from a high burden of disease related to this kind of hemophilia,” according to the statement.
Blood clotting factor IX, a protein required to build blood clots to halt bleeding, is either absent or present in insufficient amounts in people with hemophilia B, a genetic bleeding condition. After an injury, surgery, or dental operation, there may be prolonged or substantial bleeding as a symptom. In more serious circumstances, spontaneous bleeding episodes may happen without a known reason. Serious problems, such as bleeding into joints, muscles, or internal organs, including the brain, can result from protracted bleeding episodes.
Hemophilia B affects 15% of hemophilia sufferers.
Hemophilia B symptoms and development are more likely in men than in women. About 15% of hemophilia patients have hemophilia B, which has a prevalence of one in 40,000 in the general population. A large number of female carriers of the disease don’t show any symptoms. Female carriers may, however, develop mild symptoms in 10–25% of cases; moderate or severe symptoms in women are regarded to be extremely rare.
In order to strengthen the body’s capacity to stop bleeding and encourage healing, the clotting factor that is inadequate or lacking is routinely replaced. To maintain enough clotting factor to stop bleeding episodes, patients with severe hemophilia B often need a routine treatment schedule of intravenous (IV) infusions of Factor IX replacement medicines.
Hemgenix is a one-time intravenous infusion-based gene therapy treatment. It consists of a viral vector that contains the gene for clotting factor IX. The gene is expressed in the liver to produce Factor IX protein, increase blood levels of Factor IX, and stop bleeding episodes.
The drug will reportedly be sold for $3.5 million for a single dose by the Australian business CSL.
The safety and effectiveness of Hemgenix were investigated in two studies including 57 adult men with severe or moderately severe hemophilia B, aged 18 to 75. Effectiveness was assessed based on reductions in the annualized bleeding rate in men (ABR). In a study involving 54 individuals, it was discovered that the participants had higher levels of Factor IX activity, required less frequent Factor IX replacement prophylaxis, and had a 54% decrease in ABR from baseline.
Hemgenix was associated with a number of side effects, but the most frequent ones were liver enzyme increases, headaches, minor infusion-related responses, and flu-like symptoms. Blood liver enzyme increases (transaminitis) and unfavorable infusion reactions should be watched in patients.
The significance of RT-PCR in COVID-19
The significance of RT-PCR in COVID-19
A specific DNA sequence is detected and amplified using the enzymatic technique of polymerase chain reaction (PCR), which replicates DNA sequences. Reverse transcription PCR (RT-PCR) is a technique that combines PCR-assisted DNA amplification with reverse transcription of RNA into complementary DNA (cDNA). RNA serves as both the starting material and template for nucleic acid amplification in RT-PCR. For the diagnosis and quantification of RNA viral infections, including the current SARS-CoV-2 virus, RT-PCR is frequently utilized.
Quantitative PCR (qPCR) can be coupled with RT-PCR to assess the amount of cDNA that builds up in the reaction after each cycle of amplification. Applications for RT-transcriptional qPCR’s capability include pathogen identification, RNAi validation, gene expression analysis, and illness research. In COVID-19 diagnostic testing and research, both methods are used.
The COVID-19 diagnostic test uses RT-PCR to locate the virus in the patient’s body. The RNA genome of SARS-single-stranded CoV-2 is encoded. Therefore, the patient’s swab sample’s RNA must be completely extracted using a proper nucleic acid preparation process. The extracted RNAs are then all converted into cDNAs using the reverse transcriptase enzyme. From this point on, PCR is used to amplify and identify a specific DNA molecule, the viral cDNA of interest. The denaturation phase of the PCR process causes the initial separation of these double-stranded DNAs. The combination is then supplemented with a unique primer that can only bind to viral cDNA. Due to the primers’ specificity, only the viral cDNA and not any other cDNA in the sample will be bound by them. The separated cDNA strands are extended into two full double-stranded cDNAs in the last step by a polymerase enzyme, which is employed to add nucleotides to the ends of the primers. To amplify the DNA to the needed level for detection and further analysis, this process is cycled through several times. The patient’s swab sample is tested during this detection stage to see if the SARS-CoV-2 virus is present.
By incorporating a specific probe that will glow anytime a new DNA molecule is created, the qPCR component may be introduced to this process. With this probe, the increase in fluorescence signal can be used to follow the production of viral cDNA in real-time. We can be positive that the viral cDNA presence is much higher than the background noise when the signal reaches a predetermined threshold. The quantity of cycles needed for the signal to reach the threshold is known as the cycle threshold (Ct). Since it takes only a few cycles for the signal to surpass the threshold, a low Ct number denotes a high concentration of RNAs in the sample. Consequently, a low Ct value also indicates that the viral load in the initial sample was larger. A Ct value under 40 is regarded as a positive test for SARS-CoV-2. Numerous studies indicate that the lower the Ct number, the greater the likelihood that the patient will experience a COVID-19 condition that is more severe since there must be more viral particles in their body.
To reduce false positive and, more significantly, false negative results in COVID-19 diagnostic tests, high-specificity RT-PCR kits are required. Rapid and high throughput testing requires a method that can generate test results in a matter of hours. As a result, the need for this technology increased dramatically in 2020 as a result of the urgent requirement for COVID-19 quick testing and tracking to stop the spread. Sales of RT-PCR and RT-qPCR reagents and kits used in COVID-19 diagnostics are anticipated to increase in the near future in addition to the instruments. However, as soon as an effective vaccine against SARS-CoV-2 is made publicly accessible, this strong expansion will quickly subside. The Global Laboratory Consumables Industry 2020 study from SDi contains information on this fascinating market trend. Along with segmentation projections, vendor share, and other data, the research evaluates the global market size for both analytical and life science consumables.
DNA Fingerprinting is Used in Indian Criminal Law
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Deoxyribonucleic acid, or DNA, makes up the majority of a human’s genetic makeup. The structure of human DNA is a double helix. The majority of a cell’s DNA, known as nuclear DNA, is located there, while some DNA is also found in the mitochondria, known as mitochondrial DNA (mtDNA). It forms chromosomes, which house all of our genes and other genetic information when it combines with proteins.
One of the most important and trustworthy technologies utilized in the USA and UK to identify specific offenders by their own unique DNA patterns is DNA Fingerprinting. Sir Alec Jeffreys of the UK realized that no two individuals could have the exact same DNA sequence in 1984. [2] Despite the fact that more than 99% of human DNA is the same in all people, some specific strands are different even among people with the same DNA sequence. This was first discovered by Sir Jeffreys. As a result, DNA fingerprinting was created. It didn’t take long for DNA fingerprinting to show promise in criminal investigations. This approach was used in 1986 to solve the murder and rape of a teenage girl named Dawn Ashworth, who lived close to Leicester. Richard Buckland, the accused man, was found not guilty; Colin Pitchfork, the real criminal, was. It was the first instance of DNA technology being applied.
Perks
Precision
There is always a chance to discover DNA from individuals other than the perpetrator at a crime scene. Today, the majority of investigating organizations use DNA fingerprinting to identify the criminal’s DNA in situations like this. Additionally, if a blood sample or other sample mixture is discovered at the crime scene. Today’s DNA technology has advanced enough to be able to distinguish each person’s blood from a mixture of samples. This has been very helpful in getting rape convictions.
For instance, if a girl is raped by, say, six people, DNA fingerprinting may identify each person’s DNA sequence, and when we compare it to the suspects, we can identify the offenders. In these situations, everyone whose DNA pattern matches the sample is found guilty, but those whose DNA sample does not match are exonerated and found not guilty.
Consistency
DNA evidence is now more widely accepted than narcotics analysis since it is reliable. The drug analysis is an arbitrary procedure. There is a great deal of subjectivity in it. People could possibly trick it. DNA cannot lie, but people can. Statistics had previously cast doubt on the possibility of two people sharing the same DNA sequence. However, because of advancements in technology, it is now established that no two people can have the exact same DNA sequence. The courts do not typically consider narcotics analysis as evidence since it is not usually trustworthy.
It is widely utilized for non-criminal applications as well, including as paternity tests, seed stock identification, consumer product authenticity, and medical diagnosis.
Barriers
Twins that are identical or monozygotic share the same DNA. Because of this, law enforcement authorities continue to be wary of using DNA fingerprinting to deal with and identify the true perpetrator in such circumstances. The question of whether such twins can be found guilty solely on the basis of DNA evidence also arises. The main drawback of DNA evidence is this. The DNA of two identical twins is identical. Therefore, DNA evidence cannot be used to convict them in a situation where one of them has committed a crime. But in these situations, a straightforward fingerprint will assist in convicting the genuine offender. It’s because the identical twins’ fingerprints differ just slightly from one another. However, only whole fingerprints are accepted in legal proceedings because shrewd defense attorneys dispute partial prints because they can be compared to others.
Using in India
The Indian Evidence Act of 1872 and the Criminal Procedure Code of 1973 do not cover DNA testing as evidence. The polymerase chain reaction (PCR)-based DNA profiling technique being employed in India makes use of short tandem repeats (STR). The DNA test is now much faster and more accurate thanks to these methods. These methods are quite effective and popular in many nations. In India, Dr. Lalji Singh is regarded as the “Father of DNA Fingerprinting.” He invented the technology and applied it for the first time in India in 1988.
Utilization Issues in India
Sample handling
Taking Care of Samples DNA evidence must be accurately and properly collected, preserved, and documented in order to be accepted as admissible by a court. An accused person may be exonerated if DNA evidence is handled incorrectly, as was the case in the iconic OJ Simpson case. The collection and preservation process is crucial. It is necessary to use forceps and sterile gloves. Our DNA will contaminate the sample if we use our hands during the collection process.
The police constables in India today lack training in DNA sample collection. When a crime occurs abroad, forensic scientists and detectives are the first to arrive at the site to gather evidence. However, in India, a rookie constable goes there first. He removes the body and washes it, following his instinct. He obliterates crucial DNA evidence in the process. They must therefore receive training in handling, gathering, and sealing forensic evidence. However, even if there is some contamination, the test results will show it; we will observe a weak band of the individual whose DNA has been contaminated and a robust band of the true criminal’s DNA. However, courts do not accept such tainted evidence as proof.
Samples’ Storage:
DNA samples are kept in the National DNA Databases in the US and the UK. Police can only collect and deposit DNA that has been recovered from a crime scene; their retention authority is very limited. As opposed to India, where the police are able to collect and hold onto a suspect’s DNA even after they have been found not guilty. Many people are concerned about this because they worry that it could result in the misuse of the DNA database and expose personal information about individuals. the suspects even after their exoneration.
DNA from every prisoner should be kept in the database so that repeat criminals can be easily caught. Furthermore, the government is working to compile a database of everyone in nations like the UK, including innocent people who have not been convicted or found not guilty. Such databases will be useful for medical research as well as for assisting in homicide investigations.
Insufficient testing facilities:
There are ample facilities for DNA testing in other nations. Given the abundance of institutions, anyone can have their DNA fingerprinted. They can sequence the entire genome for as little as $10000 to $12,000. However, there are not many facilities in India. People must travel all the way to the Centre for Cellular and Molecular Biology, or CCMB, in Hyderabad to perform a DNA test. Not everyone may be able to pull this off. Due to the effectiveness of this technology, this institution needs to have branches in every region of the nation. If it can’t be done, it must be ensured that DNA testing is easily accessible to everyone across the nation.
Infringement of constitutional rights:
There have been a lot of ethical questions raised about DNA tests. According to some, it violates Article 20 of the Indian Constitution’s protections for the rights to privacy, life, and self-incrimination.
The ND Tiwari case is the most well-known application of DNA fingerprinting in India. Rohit Shekhar claimed that the well-known politician ND Tiwari was his biological father. Numerous legal questions regarding DNA testing came up in the ensuing paternity lawsuit, including whether paternity can be definitively established (100%) by such testing and if individuals have the right to maintain the confidentiality of such results.
According to Indian law, no one can be compelled into providing DNA evidence against their will. However, in some cases today, judges are requiring suspects to submit to DNA tests. All of these defenses were made, just like in the ND Tiwari case. But for the sake of the general public, the court ordered ND Tiwari to provide a sample of his blood. To uphold the demands of justice, courts have the authority to order persons to provide blood samples.
A Happy Meal With Probiotics
A Happy Meal With Probiotics
Children can be quite fussy eaters. Food seems to be the subject of many disputes between parents and kids. Although it is usually the goal to keep kids healthy and fed, they don’t always view it that way. Certain meals are abhorred at all costs by children. They might throw them away, conceal them, or smuggle them under the table for the household animal to devour. The secret is to locate a really happy lunch.
Consume your vegetables
Funny how everything comes full circle. You might recall hearing your parents begging or pleading with you as a child to “eat your vegetables.” Then, when those same youngsters grow up and become parents, they behave exactly the same way toward their own kids.
Minerals and vitamins are crucial for growing children. A child requires plenty of calcium, vitamin D, and potassium, among other things. Probiotics, the living microorganisms that alter the balance of bacteria in the human body, are also. By increasing beneficial bacteria, it may be possible to prevent infection and eliminate dangerous bacteria. Infants and kids with diarrhea, stomach and intestinal problems, and eczema may benefit from probiotics.
Consume Probiotics
The secret is to encourage youngsters to consume nutritious, probiotic-friendly snacks without having to argue with them or yell, “Eat your probiotics!” Even better if we can make it enjoyable. What foods are the best then?
Pickles (pickled in brine, not vinegar) and green olives might work if you have energetic children. The same holds true with kimchi or miso soup. While not to everyone’s taste, occasionally kids will astound you and appreciate upscale treats. Get kids to switch from milk chocolate to dark chocolate that has at least 70% cocoa if you want something that will be quite simple for them to appreciate. Probiotics and prebiotics can be found in good amounts in this.
Consume Probiotics Daily
Prebiotics, which are indigestible fibers found in some fruits, nourish and feed the probiotics in our bodies and help them thrive by feeding the healthy bacteria in our stomach. Three foods that are rich in prebiotics are kiwifruit, apples, and bananas. Even though they are excellent on their own, mixing them to create a smoothie is a fun way to engage the kids. Eating food they helped prepare seems to make them happier.
Boost the probiotic content of your smoothie by adding yogurt with live, active cultures. Just be sure to add probiotic supplements to your preferred smoothie recipe to introduce good bacteria to your system, maintain a healthy gut ecosystem, and strengthen your immune system. After all, the cold and flu season will be here soon. Megadophilus or Digest-Lac are the ideal mix-in partners.
Yogurt can also be served in a bowl with the kids’ choice of fruit and probiotics from Natren. One of the few occasions when “playing with your food” is acceptable is now. A simple snack can be made by freezing the mixture in a Popsicle shape. Just be aware that freezing will destroy a large portion of the probiotics, so be sure to supplement.
Kefir, a probiotic milk beverage produced from goat or cow milk with kefir grains, is another nutritious beverage. Although people who are lactose intolerant can frequently enjoy it because it contains some of the primary strains of friendly bacteria, it is always preferable to be safe and consume it alongside Megadophilus. This will aid those who might have lactose and dairy intolerance concerns by ensuring that the small intestine is nourished. Additionally, you must have genuine kefir. There is currently no organization in place to control how people and businesses describe what you will actually receive. You must be perceptive, well-informed, and intelligent.
In other words, probiotics can truly involve the entire family. The new Happy Meal is probiotics.