Can CRISPR Curb Sickle Cell?

CRISPR Has the Potential to Snip Out Sickle Cell Disease

Sickle cell disease affects about 100,000 people in the United States, according to the Centers for Disease Control and Prevention (CDC), and affects millions of people across the globe. A new technology, known as CRISPR, may change all that.

CRISPR is short for “clustered regularly interspaced short palindromic repeats.” It is a group of technologies capable of editing the genes in people with inherited conditions, such as sickle cell disease.

Sickle cell disease is an inherited disorder that affects red blood cells, which transport oxygen to the rest of the body. Specifically, sickle cell disorders affect hemoglobin (Hgb), which is the protein in red blood cells responsible for transporting oxygen. A mutation in a single DNA letter (S) causes the sickle cell trait to be passed from one generation to the next. People with sickle cell disorders inherit an abnormal version of hemoglobin, known as Hgb S, which distorts the shape of the red blood cells.

Red blood cells normally have a round donut shape that allows them to carry an ample supply of oxygen, and to flow through tiny blood vessels smoothly. People with sickle cell inherit a trait that, during a sickle cell crisis, causes the normally round blood cells to resemble the C-shaped farm tool known as a sickle. The sickle cells become hard and sticky, so they clump together instead of flowing freely.

The cells are fragile and prone to rupturing, which can lead to anemia. The deformed cells also die early, which causes a constant shortage of red blood cells. The abnormal shape also means the cells can block blood vessels and damage tissue. This can cause pain, infections, a lung problem known as acute chest syndrome, stroke and other serious health issues during a sickle cell crisis and afterwards.

Current treatments involve blood transfusions, the drug hydroxyurea and bone marrow transplants. Each of these comes with risks and complications.

Enter CRISPR

CRISPR is a group of gene editing technologies that allow scientists to change an organisms DNA by adding, removing or altering specific locations within the gene. Researchers created CRISPR by adapting a naturally occurring gene editing system in bacteria, which captures little snippets of an invading virus’s genes. If the virus ever attacks again, the bacteria use the snippets to create and insert a new DNA sequence into the virus, which effectively changes the virus.

The technology works the same in the lab, except to produce positive results. Scientists first remove the snippet of the “bad” gene that causes sickle cell, using CRISPR to cut the sickle cell gene (S) from a precise location in DNA, and replaces it with healthy genes. Scientists then attach healthy hemoglobin genes to a harmless virus, and then put the virus and the corrected genes it carries back in the patient’s body.

Researchers from the National Institutes of Health performed a clinical trial in which they used CRISPR to edit the genes of nine people with sickle cell disease. The lead researcher, John Tisdale, spoke about their progress and said that all of the people who had received the gene therapy had good hemoglobin levels and that none of the participants had experienced sickle cell crises.

More research is necessary before gene editing becomes a common course of treatment, but CRISPR may someday help all people overcome sickle cell disease and its complications.

Frank Magliochetti owes his professional success to his expertise in two areas: medicine and finance. After obtaining a BS in pharmacy from Northeastern University, he stayed on to enroll in the Masters of Toxicology program. He later specialized in corporate finance, receiving an MBA from The Sawyer School of Business at Suffolk University. His educational background includes completion of the Advanced Management Program at Harvard Business School and the General Management Program at Stanford Business School. Frank Magliochetti has held senior positions at Baxter International, Kontron Instruments, Haemonetics Corporation, and Sandoz. Since 2000, he has been a managing partner at Parcae Capital, where he focuses on financial restructuring and interim management services for companies in the healthcare, media, and alternative energy industries. Earlier this year, he was appointed chairman of the board at Grace Health Technology, a company providing an enterprise solution for the laboratory environment.

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com

Pharmacogenomic Testing and Health Care Costs

Pharmacogenomic Testing: Could it Reduce Health Care Cost?

A relatively new type of drug testing could reduce health care costs. This type of testing is known as pharmacogenomic testing. It looks at how the genes a person inherits affects how medications works in his or her body.

Many things can affect how drugs work in the body. Someone’s size can be a factor, for example, as a large person needs more of a drug than does a small person. A person’s diet can also affect how well his or her body absorbs and uses medications.

Genes can also affect how a person’s body responds to drugs. Differences in genetic makeup between people influences what their bodies do to a drug and what a drug does to their bodies. A person’s genetic makeup may cause slow metabolism of medications, for example, and this can cause the drugs to accumulate to toxic levels in the body. Other people metabolize drugs so quickly that drug levels never get high enough to provide a therapeutic effect.

About Pharmacogenomics

In pharmacogenomics, scientists study the genetic differences that affect the response to drugs. The word “pharmacogenomics” is a combination of the word’s pharmacology and genomics; pharmacology is the study of the uses and effects of medications, while genomics is the study of genes and their functions. The aim of pharmacogenomics is to develop safe, effective medications and doses tailored to an individual’s genetic makeup.

Pharmacogenomic testing helps researchers get a better understanding of the relationship between genetics and drug response. This understanding ultimately leads to treatments that work better and cost less.

Most of the medications currently available are “one size fits all,” but these drugs do not work the same way for everybody due to genetic differences. These inherited differences can make it difficult to predict who will benefit from a drug, who will not respond at all, and who will suffer negative side effects. Incorrect predictions can lead to prescribing drugs that do not work, work poorly, or worst of all, cause adverse side effects.

The Food and Drug Administration (FDA) tracks adverse drug reactions and issues “black box warnings” for medications that have the potential for severe side effects associated with genetic predispositions and other causes. These warnings, which apply to more than 200 drugs, help doctors choose the right medications. In some cases, the black box warnings contain genomic information that alerts doctors to the potential risk of adverse reactions and provides dosing instructions according to pharmacogenomic testing results.

Pharmacogenomic testing can reduce health care costs by helping doctors prescribe medications that those patients who are genetically predisposed to benefiting from the drug. This testing can also reduces the risk of adverse events in patients with a certain genetic predisposition.

Negative side effects, also known as adverse drug reactions or adverse drug events, are a significant cause of hospitalizations and death. Adverse drug reactions lead to approximately 1.3 million emergency department (ED) visits and 350,000 hospitalizations every year, according to the Centers for Disease Control and Prevention (CDC). The FDA says that adverse drug events may be the fourth leading cause of death in the United States, causing more than 106,000 deaths annually.

Adverse drug reactions are dangerous, but they are also costly. Adverse drug events cost the nation about $3.5 billion in excess medical costs every year. These drug reactions affect about 2 million hospitalizations each year and prolong these hospital stays by 1.7 to 4.6 days, which significantly adds to the cost of hospital care. Outside the hospital, adverse drug reactions result in more than 3.5 million visits to doctor offices, approximately a million emergency department visits and around 125,000 admissions to the hospital. More than 40 percent of the costs related to adverse drug reactions occurring outside the hospital may be preventable.

About Pharmacogenomic Testing and its Benefits

Researchers are using information from the Human Genome Project to investigate how genetics affects the body’s response to medications. The results help researchers to predict whether a drug will work effectively for a particular person, and to help prevent adverse drug events.

The test requires a small blood or saliva sample. Laboratory technicians perform tests that look for changes or variants in one or more genes, which can affect your body’s response to certain medications.

Pharmacogenomic testing evaluates the genetic factors that affect how your body metabolizes medications. The information gained from the test helps your doctor determine if a particular medication is right for you, calculate the correct dosage to adjust for your metabolism, and to help predict whether you could experience serious side effects from the drug. It can also save money.


Medical and finance expert Frank Magliochetti explains;

Healthcare spending in the United States reached $3.5 trillion in 2017, rising by 3.9% year-on-year and accounting for 17.9% of gross domestic product (GDP), according to data from the Centers for Medicare and Medicaid Services (CMS). Independent federal actuaries estimate that the amount climbed to $3.65 trillion in 2018, and the Organization for Economic Co-Operation and Development (OECD) ranks the United States as the country with the highest health expenditure per capita. According to CMS projections, US spending will continue to grow at an average rate of 5.5% annually through 2026, when it is expected to reach $5.7 trillion and account for 19.7% of GDP. These massive and steadily rising costs are a source of concern for the government, which is constantly exploring means of reining in healthcare expenses, including through preventive measures and investment in research projects. Among the most promising new developments is pharmacogenomic testing, which involves studying the impact of people’s genetic makeup on their response to drugs so that effective and efficient treatment regimens can be devised

Frank Magliochetti owes his professional success to his expertise in two areas: medicine and finance. After obtaining a BS in pharmacy from Northeastern University, he stayed on to enroll in the Masters of Toxicology program. He later specialized in corporate finance, receiving an MBA from The Sawyer School of Business at Suffolk University. His educational background includes completion of the Advanced Management Program at Harvard Business School and the General Management Program at Stanford Business School. Frank Magliochetti has held senior positions at Baxter International, Kontron Instruments, Haemonetics Corporation, and Sandoz. Since 2000, he has been a managing partner at Parcae Capital, where he focuses on financial restructuring and interim management services for companies in the healthcare, media, and alternative energy industries. Earlier this year, he was appointed chairman of the board at Grace Health Technology, a company providing an enterprise solution for the laboratory environment.

Mr. Frank Magliochetti MBA
Managing Partner
Parcae Capital

www.parcaecapitalcorp.com
www.frankmagliochetti.com

Bedside vs Telemedicine Assessments

Telemedicine for Assessing Levels of Consciousness in Comatose Patients: How Does it Compare to Bedside Assessment?

Effective care for comatose patients in intensive care units (ICUs) depends on proper intervention based on reliable assessment. Researchers recently conducted a study at Mayo Clinic Hospital in Arizona to compare the effectiveness of using telemedicine to assess levels of consciousness in comatose patients with standard bedside assessment.

Proper intervention relies on the ability to recognize changes in a comatose patient’s clinical status quickly. This had usually meant that, in order to complete an assessment, the practitioner needed to be in the same room. Advanced medical technology is changing all that and robotic medicine now allows clinicians to assess patients from across the hospital or from across the world.frankmagliochetti_Telemedice_HealthcareTrends-Innovations

Telemedicine has been around since the 1960s, when NASA built telemedicine technology into astronauts’ suits. Prior to this technology, astronauts had to rely on crewmates for an accurate diagnosis. Monitors in the suits sent biometric information about the wearer back to earth for assessment.

Computers have revolutionized telemedicine and the internet helps doctors assess patients living in remote places. This is especially helpful for patients living in underserved areas.

Despite major advances, many still worry about the effectiveness in using this technology for the most critically ill patients. A new study published in Telemedicine and e-Health should help to dispel this fear, with researchers showing that robotic telemedicine can be used successfully to complete assessments in comatose ICU patients.

Testing the Reliability of Telemedicine in the Assessment of Levels of Consciousness

Researchers enrolled 100 patients from Mayo Clinic Hospital in Arizona into the study, which occurred over a 15-month timeframe. Mean age of patient participants was 70.8 years. On average, each examination took just over 5 minutes.

Sixteen medical doctors also participated by using two scoring systems, the Glasgow Coma Scale (GCS) and the Full Outline of UnResponsiveness (FOUR) score, to assess patients’ levels of consciousness. The researchers randomly assigned two practitioners to each patient; one doctor used real-time audio and a visual robotic telemedicine system to perform the assessment and the other clinician conducted an assessment at the patient’s bedside. Each used GCS and FOUR scales.

The researchers used paired t-test and Pearson correlation coefficient (PCC) to compare the GCS and FOUR scores between bedside and Telemedicine_FrankMAgliochetti-HealthcareReportremote physician.

Differences in GCS and FOUR scores between remote and beside assessment were small. The mean Glasgow Coma Scale score at bedside was 7.5 while the mean GCS score for the remote examination was 7.23. Scores were comparable in the FOUR total scores too, with a mean bedside score of 9.63 and a mean remote score of 9.21.

The researchers also asked the clinicians about their overall satisfaction and ease of use. Ninety-five percent of remote providers rated GCS and 89% rated FOUR score as good (4/5).

Conclusions

The study is the first to evaluate the effectiveness of telemedicine in assessing patients with depressed levels of consciousness. The results suggest that doctors can reliably assess levels of consciousness in comatose patients using existing robotic telemedicine technology. Healthcare providers could adopt telemedicine to help evaluate critically ill patients in neurologically underserved areas.

“This is good news in many ways,” states lead author of the study, Amelia Adcock, M.D, in a press release issued by Mayo Clinic. “We use telemedicine frequently when evaluating acute stroke patients. This study suggests yet another way telemedicine can enhance patient care. There is a shortage of intensive care unit providers and facilities with round-the-clock patient coverage. Telemedicine can provide a way to ameliorate this shortage and improve early evaluation of critically ill patients.”

Source

http://online.liebertpub.com/doi/10.1089/tmj.2016.0225

Frank Magliochetti is Managing Partner for Parcae Capital

  • North Andover, Massachusetts

This column of posts is directed at the Healthcare Industry.  Frank plans to release new sites dedicated to the industry. Frank currently assists companies who are building, restructuring, transforming and resurrecting there business’s. An example of his client base are, Xenetic Biosciences , IPC Medical Corp, Just Fellowship Corp, Environmental Services Inc., Parsons Post House LLC, ClickStream Corporation as well as having a business talk radio show; The Business Architect on the URBN network.

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Early Signs of Disease Identified with Wearable Sensors

Wearable Sensors May Help Identify Early Signs of Disease

Wearable technologies may be able to do much more than monitor a person’s blood pressure or total number of steps each day, according to a new study, which suggests wearable sensors can detect early signs of serious disease.

Wearable biosensors, otherwise known as wearables, are a low-cost technology capable of measuring physiological parameters continuously or frequently. Biosensor technology is a promising approach to monitoring physiological measurements, and these devices could potentially identify significant changes in health conditions. Capable of passive and routine recording, the technology can provide immediate real-time delivery of multiple measurements to the wearer or physician. Software simplifies the technology, so using wearable biosensors requires minimal training and attention from the wearer or the clinician.frank-magliochetti-biosensors-healthcare-report

In addition to physiological measurements, wearable devices can capture the wearer’s physical activities, such as walking, running, and biking, often in conjunction with a GPS to provide information about the location of the activity.

Wearables can Track Health and Provide Useful Health Information

The newest generation of portable biosensors can measure health-related physiology changes during various activities. The goal of the study, published in PLOS Biology in January 2017, was to investigate the use of portable biosensors in this capacity and their potential role in health management, specifically in the diagnosis and analysis of disease.

The researchers fitted participants with between one and seven commercially available activity monitors. Over the course of the study, the scientists recorded more than 250,000 daily measurements, including participants’ heart rate, skin temperature, blood oxygen, sleep and calories expended collected from up to 43 individuals. The scientists then combined biosensor information with medical measurements to develop a personalized, activity-based normalization framework, which they used to identify abnormal physiological signals and detect disease.

Several participants reported minor cold-like illnesses in the study’s first two years. At the onset of these illnesses, the sensors detected higher than normal readings for skin temperature and heart rate. Blood tests showed an increase in inflammation before symptoms occurred.

Biosensors-frankmagliochetti-reportThe devices could detect physiological differences, namely variations in heart rate patterns, between insulin-sensitive and insulin-resistant individuals. The researchers also found interesting physiological changes associated with alterations in environment. Participants’ blood oxygen levels decreased during high-altitude flight, for example, and this decrease in oxygen levels correlated with fatigue.

The wearables even detected physiological changes in one person – lead author of the study, Michael Snyder – who later turned out to have Lyme disease. The geneticist never developed the telltale bulls-eye rash that usually precedes the condition, but his smart watch and other sensors detected changes in his own oxygen levels and heart rate. Shortly afterwards, Snyder developed symptoms and received an official diagnosis of Lyme disease.

The researchers concluded by saying the portable biosensors can provide information useful for the monitoring of personal activities and physiology. These devices will likely play an important role in health management and access to care by those traditionally limited by geography or socioeconomic class.

Lead author of the study, Michael Snyder, said in a press release that today’s wearables are “the equivalent of oral thermometers but you’re measuring yourself all the time.” He added wearables might someday act as a “check engine” light that tells the wearer when it is time to see a doctor.

Source

http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.2001402

http://www.biosciencetechnology.com/news/2017/01/testing-wearable-sensors-check-engine-light-health-0

Frank Magliochetti is Managing Partner for Parcae Capital

  • North Andover, Massachusetts

This column of posts is directed at the Healthcare Industry.  Frank plans to release new sites dedicated to the industry. Frank currently assists companies who are building, restructuring, transforming and resurrecting there business’s. An example of his client base are, Xenetic Biosciences , IPC Medical Corp, Just Fellowship Corp, Environmental Services Inc., Parsons Post House LLC, ClickStream Corporation as well as having a business talk radio show; The Business Architect on the URBN network.

Prenatal Fish Oil – Asthma in Children

Prenatal Fish Oil Supplementation May Lower Risk of Asthma in Children

Taking fish oil supplements during pregnancy may lower the risk of asthma in children, according to a new study published in the New England Journal of Medicine.

The study shows that supplementation with long-chain polyunsaturated fatty acids (LCPUFA) during the third trimester can reduce the risk of asthma or persistent wheeze in the babies. LCPUFA supplementation also reduces the risk of lower respiratory tract infections (LRTIs) in the offspring.

Pregnant woman

Asthma in Children is a Significant Problem

Asthma is a common problem in children born in the United States. Approximately 7.4 percent of adults and 8.6 percent of children in the nation have asthma, according to the Asthma and Allergy Foundation of America (AAFA), and the number of children with the breathing disorder has been increasing since the 1980s.

Hospitalization rates for asthma are historically higher in the Northeast. Massachusetts has the highest prevalence rate for asthma at 12 percent, according to statistics presented by the Centers for Disease Control and Prevention (CDC), with several other northeastern states following with asthma prevalence rates topping 10 percent.

Fish Oil-Derived LCPUFAs in Pregnancy and Asthma in Offspring

Reduced intake of LCPUFAs may contribute to the increased incidence of wheezing and asthma in children. The researchers in the NEJM study hoped to evaluate the effects of maternal LCPUFA supplementation on offspring.

The scientists enrolled 736 pregnant women at 24 weeks of gestation into the study then randomly assigned the subjects to control and test Asthma-prenatal-fish-oil-frank-magliochetti-report-healthcaregroups. Participants in the test group received 2.4 g of n−3 LCPUFA derived from fish oil each day, while those in the control group took a placebo containing olive oil daily.

The participants’ offspring became the Copenhagen Prospective Studies on Asthma in Childhood (COPSAC) cohort. The researchers followed this group of children for several years, with pediatricians collecting clinical data for visits at 1 week after birth, and then at 1, 3, 6 months and every 6 months until the children reached 36 months of age. The pediatricians then saw the children yearly until the participants were 5 years old.

Neither the researchers nor the participants knew which group the children belonged to for the first three years of follow-up studies. During the next two years of follow-up studies, only the scientists were unaware of the group assignments.

The researchers looked primarily for persistent wheezing and asthma, but included LRTIs, eczema, asthma exacerbations, and allergic sensitization as secondary endpoints.

Ninety-five percent of the 695 children included in the COPSAC cohort completed the 3-year, double-blind follow-up portion of the study. The researchers found that the risk of asthma or persistent wheeze in the treatment group receiving LCPUFA was 16.9 percent, while the risk was 23.7 percent in the control group. This means consuming fish oil-derived LCPUFAs can lower the risk of persistent wheeze or asthma and LRTIs in offspring by nearly 7 percentage points, or one-third. Analysis of the secondary endpoints showed that supplementation reduces the risk of LRTIs, but there was no association between supplementation and asthma exacerbations, allergic sensitization, or eczema.

These findings would be extremely helpful for expectant mothers hoping to reduce the risk of asthma and other breathing problems in their children.

Source

http://www.nejm.org/doi/full/10.1056/NEJMoa1503734

http://www.aafa.org/page/asthma-facts.aspx

https://www.ncbi.nlm.nih.gov/pubmed/12214899

https://www.cdc.gov/asthma/most_recent_data_states.htm

Frank Magliochetti is Managing Partner for Parcae Capital

  • North Andover, Massachusetts

This column of posts is directed at the Healthcare Industry.  Frank plans to release new sites dedicated to the industry. Frank currently assists companies who are building, restructuring, transforming and resurrecting there business’s. An example of his client base are, Xenetic Biosciences , IPC Medical Corp, Just Fellowship Corp, Environmental Services Inc., Parsons Post House LLC, ClickStream Corporation as well as having a business talk radio show; The Business Architect on the URBN network.

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Spending Trends in Children’s Healthcare

Spending Trends 1996 – 2013: Health Care for Children

Spending on health care for children has risen in the past 20 years and a new article sheds light on where the money goes.

Frank Magliochetti

Personal health care spending for children skyrocketed 56 percent between 1996 and 2013, according to a new study published online by JAMA Pediatrics. Increased spending in health care for children reflects the increased spending for patients of all ages, according to the statistics presented by frankmaglochetti_healthcare-report-trendsthe Centers for Medicare & Medicaid Services (CMS). The United States spent about $3.2 trillion for health care in 2015, or $9,990 per person, up 5.8 percent from the year before.

Spending Trends for Children’s Personal Health Care in the U.S., 1996 – 2013

While health care spending on children continues to rise, there is very little data on differences in spending for specific conditions, age groups, gender, and type of care. There is also a paucity of information on how spending patterns have changed over the years. To shed light on these spending patterns, Joseph L. Dieleman, Ph.D., of the University of Washington, Seattle, and his team of researchers used 183 sources of data and 2.9 billion patient records gathered from the Institute for Health Metrics and Evaluation Disease Expenditure 2013 project database. They performed annual estimates for each year from 1996 through 2013 and used inflation-adjusted 2015 dollars to report estimates.

They found that spending for pediatric health care increased from $149.6 billion in 1996 to $233.5 billion in 2013. Spending per child rose from $1,915 in 1996 to $2,777 in 2013.

frankmagliochetti_report-trends-childrenhealthcareMost of the money went for well-newborn care in inpatient settings, attention deficit/hyperactivity disorder (ADHD) and well-dental care. Payers spent $27.9 billion for inpatient well-newborn care, which was the largest condition leading to health care spending.

ADHD and well-dental care services were the second and third largest conditions leading to health care spending in children, with $20.6 billion for ADHD care and $18.2 billion for well-dental care. At $9 billion, asthma care garnered the fourth highest level of spending.

The researchers found that, at $11,741, the greatest spending per child was for infants younger than 1 year in 2013. Spending per child increased over time, rising from $1915 in 1996 to $2777 in 2013. Ambulatory care among all types of care and inpatient well-newborn care, ADHD, and asthma showed the greatest growth.

Just over 30 percent of total children’s health care went for inpatient care, 38.6 percent went towards ambulatory care, and 7.8 percent was spent on retail pharmaceuticals in 2013. More was spent on males than on females.childrenhealthcarecosts-frank-magliochetti

The findings provide information about spending trends for child health care and serve as a guide for future spending. Payers can expect larger health care spending growth rates for inpatient well-newborn care and ADHD, for example, while health care professionals can gear up to provide an increased amount of care for these conditions.

“The next step should be analyzing the factors driving increased health care spending and determining whether changes in particular subcategories of spending have been associated with improvements in processes or outcomes. It is crucial to understand whether spending increases have been appropriate or misguided and how we might target spending increases and reductions now and in the future,” the authors conclude in a press release.

Source

http://jamanetwork.com/journals/jamapediatrics/fullarticle/2593700

https://www.cms.gov/Research-Statistics-Data-and-Systems/Statistics-Trends-and-Reports/NationalHealthExpendData/downloads/highlights.pdf

http://media.jamanetwork.com/news-item/how-much-money-is-spent-on-kids-health-care-where-does-it-go/

Frank Magliochetti is Managing Partner for Parcae Capital

  • North Andover, Massachusetts

This column of posts is directed at the Healthcare Industry.  Frank plans to release new sites dedicated to the industry. Frank currently assists companies who are building, restructuring, transforming and resurrecting there business’s. An example of his client base are, Xenetic Biosciences , IPC Medical Corp, Just Fellowship Corp, Environmental Services Inc., Parsons Post House LLC, ClickStream Corporation as well as having a business talk radio show; The Business Architect on the URBN network.

frankmagliochetti_ParcaeCapital