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AVROBIO Presents Positive Initial Data for its Investigational Cystinosis Program and Plato TM Platform, as well as Positive Data Out to 32 Months for…

Posted: February 16, 2020 at 3:51 pm

Early data trends from first patient dosed in the AVR-RD-04 investigational gene therapy program for cystinosis show improvements across multiple measures

Data from the Phase 1 and Phase 2 trials of AVR-RD-01 support potential long-term engraftment and durable, endogenous production of functional enzyme in patients with Fabry disease

First Phase 2 Fabry patient treated using plato gene therapy platform shows plasma enzyme activity at one month 4.0 times higher than mean activity of other Phase 2 patients treated using academic platform at same timepoint

Analyst and investor event will be webcast today, Feb. 10, 2020, at 7:00 p.m. ET, in conjunction with WORLDSymposiumTM

AVROBIO, Inc. (NASDAQ: AVRO), a leading clinical-stage gene therapy company with a mission to free people from a lifetime of genetic disease, today announced new initial data from the first patient dosed in the investigational gene therapy program for cystinosis, showing improvements in early measures at three months compared to baseline. The company also unveiled new clinical data showcasing a sustained biomarker response in patients for up to 32 months after receiving the companys investigational gene therapy for Fabry disease across metrics including vector copy number (VCN), substrate levels and enzyme activity. Additionally, the company reported on the clinical debut of its platoTM gene therapy platform. These data showed improved enzyme activity, transduction efficiency and VCN in drug product manufactured using plato compared with drug product produced using the academic platform, as well as higher in vivo enzyme activity at one month in the first patient treated with plato, as compared to other patients treated using the academic platform. All these data will be presented today, during the 16th Annual WORLDSymposiumTM in Orlando, Fla.

"We have now dosed 10 patients across three trials for two lysosomal disorders and were delighted with the data were seeing. We have followed six patients in our Fabry trial for more than a year and one for nearly three years, and they are consistently producing the functional enzyme that was missing as a consequence of their genetic disease, suggesting a potentially durable effect from a single dose," said Geoff MacKay, AVROBIOs president and CEO. "Furthermore, we believe that early data from the first clinical application of plato support our decision to invest heavily from AVROBIO's earliest days in this state-of-the-art gene therapy platform. We believe these data collectively indicate that were making exciting progress toward our goal of freeing patients and families from the life-limiting symptoms and relentless progression of lysosomal disorders."

Three-month data from first patient in investigational AVR-RD-04 trial in cystinosisAVROBIO reported initial data from the first patient dosed in the investigator-sponsored Phase 1/2 trial of the companys AVR-RD-04 investigational gene therapy for cystinosis, a progressive disease marked by the accumulation of cystine crystals in cellular organelles known as lysosomes. Patients with cystinosis accumulate the amino acid cystine, which can lead to crystal formation in the lysosomes of cells, causing debilitating symptoms including corneal damage, difficulty breathing and kidney failure, often leading to a shortened lifespan. The current standard of care for cystinosis, a burdensome treatment regimen that can amount to dozens of pills a day, may not prevent overall progression of the disease.

As of the safety data cut-off date of Jan. 27, 2020, which was approximately three months following administration of the investigational gene therapy to the first patient in the AVR-RD-04 program, there have been no reports of safety events attributed to the investigational drug product. In addition, no serious adverse events (SAEs) have been reported as of the safety data cut-off date. Adverse events did not suggest any unexpected safety signals or trends.

Three months following administration of AVR-RD-04, the first patient had a VCN of 2.0. VCN measures the average number of copies of the lentiviral-vector inserted transgene integrated into the genome of a cell and can be used to help assess the durability of a gene therapy. Initial data on another biomarker show that the patients average granulocyte cystine level -- one of the trials primary endpoints -- decreased from 7.8 nmol half cystine/mg protein two weeks after cysteamine discontinuation, to 1.5 at three months post-gene therapy.

The ongoing open-label, single-arm Phase 1/2 clinical trial evaluating the safety and efficacy of AVR-RD-04 is sponsored by AVROBIOs academic collaborators at the University of California San Diego (UCSD), led by Stephanie Cherqui, Ph.D. The trial is actively enrolling up to six participants at UCSD.

Interim data continue to support potential first line use of AVR-RD-01 in Fabry diseaseFour patients have been dosed in the Phase 2 trial (FAB-201), and five patients in the Phase 1 investigator-led trial of AVR-RD-01 in Fabry disease.

VCN data continue to be stable at 32 months following AVR-RD-01 treatment for the first patient in the Phase 1 trial, suggesting successful engraftment, which is critical to the long-term success of investigational ex vivo lentiviral gene therapies. The VCN data trend was generally consistent across the seven other Phase 1 and Phase 2 trial participants out six to 24 months.

The first three AVR-RD-01 Phase 2 patients entered the study with minimal endogenous enzyme activity. At nine, 12 and 18 months after dosing, data from these three patients indicate sustained increased leukocyte and plasma enzyme activity, suggesting that they are now producing an endogenous supply of functional alpha-galactosidase (AGA) enzyme. This enzyme is essential for breaking down globotriaosylceramide (Gb3) in cells; without it, a toxic metabolite, lyso-Gb3, may accumulate, potentially causing cardiac and kidney damage and other symptoms.

For two Phase 2 patients, data indicate that their decreased plasma lyso-Gb3 levels, a key biomarker for monitoring Fabry disease, have been sustained below their baseline at six and 18 months after dosing. The third Phase 2 patient, a cardiac variant who does not have classic Fabry disease, did not show a decrease in plasma lyso-Gb3 levels, as expected. Cardiac and kidney function measures in the Phase 2 trial remained within normal range for patients who had available 12-month data.

As previously reported, a kidney biopsy taken at 12 months post-treatment for the first patient in the Phase 2 trial showed an 87-percent reduction in Gb3 inclusions per peritubular capillary. The company believes this data point, the primary efficacy endpoint for the Phase 2 trial, supports the potential of AVR-RD-01 to reduce Gb3 levels in tissue, including in the kidney.

In the Phase 1 trial of AVR-RD-01, four of the five patients had their plasma lyso-Gb3 levels reduced between 26 and 47 percent compared to their pre-treatment baseline levels. Data from the other patient in the trial, who remains off enzyme replacement therapy (ERT), through month six showed an initial decline and at month 12 showed a 23-percent increase in lyso-Gb3 levels, as compared to pre-treatment levels. This patients lyso-Gb3 levels remain within the range for the Fabry disease patients on ERT observed in this study.

Overall, three of the five Phase 1 patients have discontinued ERT and all three remain off ERT for six, 14 and 15 months.

As of the safety data cut-off date of Nov. 26, 2019, there have been no safety events attributed to AVR-RD-01 drug product in either the Phase 1 or Phase 2 trial. Through the safety data cut-off date, four SAEs have been reported in the FAB-201 trial and two SAEs in the Phase 1 trial. The fourth Phase 2 patient, who was dosed after the safety data cut-off date, has reported an SAE, which was not attributed to AVR-RD-01 and which subsequently resolved. Across both studies, each of the SAEs has been consistent with the conditioning regimen, stem cell mobilization, underlying disease or pre-existing conditions. Pre-existing low anti-AGA antibody titers have been detected in four patients in the Phase 1 trial and a transient low titer was observed but not detectable in subsequent measures in one patient in the Phase 2 trial.

The Phase 1 trial is fully enrolled. AVROBIO continues to actively enroll the Phase 2 trial in Australia, Canada and the U.S. The FAB-201 trial is an ongoing open-label, single-arm Phase 2 clinical trial evaluating the efficacy and safety of AVR-RD-01 in eight to 12 treatment-nave patients with Fabry disease.

Successful clinical debut of platoTM gene therapy platformAVROBIO also shared preliminary results from the first two patients to receive busulfan conditioning. Conditioning is an essential step in ex vivo lentiviral gene therapy designed to clear space in the bone marrow for the cells carrying the therapeutic transgene to engraft. The conditioning regimen developed as part of AVROBIOs plato platform includes therapeutic dose monitoring to assess how rapidly the individual patient metabolizes busulfan so physicians can adjust the dose as needed, with a goal of minimizing side effects while maximizing the potential of durable engraftment.

AVROBIO is implementing its precision dosing conditioning regimen across its company-sponsored clinical trials as part of the plato platform. The fourth patient in AVROBIOs Phase 2 Fabry trial received a precision dosing conditioning regimen with busulfan as part of the plato platform, while the first patient in the investigator-led cystinosis trial received busulfan but not as part of the plato platform.

These two patients both had rapid neutrophil and platelet count recovery, with a trajectory that was similar to the patients who enrolled earlier in the Fabry trials and who received a melphalan conditioning regimen. Side effects, which included nausea, mucositis, fever, rash and hair loss, developed eight to 10 days after dosing with busulfan and then resolved quickly.

The company also reported preliminary data from the first drug product produced using the plato gene therapy platform, which was used to dose the fourth patient in the Phase 2 Fabry trial (FAB-201). Early data indicate that enzyme activity and transduction efficiency for the drug product used to dose the fourth patient were 2.2 times higher than the mean of the drug product used to dose the first three patients in FAB-201. VCN for the drug product used to dose the fourth patient was 1.8 times higher than the mean of the drug product for the first three patients dosed in FAB-201. The drug product for the first three patients in FAB-201 was manufactured using a manual process first developed by AVROBIOs academic collaborators. The automated manufacturing embedded in plato leverages optimized processes developed at AVROBIO.

At one month following administration of the plato-produced investigational gene therapy for the fourth patient in the Phase 2 Fabry trial, initial data show the patients plasma enzyme activity level to be 4.0 times higher than the mean activity level of the first three patients in the Phase 2 Fabry trial at the same timepoint.

The investigational drug product used to dose the first patient in the AVR-RD-04 program for cystinosis, which included a four-plasmid vector but not platos automated manufacturing process, also showed increased performance in line with the increased performance recorded for the drug product in the Fabry trial. The investigational drug product and VCN assay are different for each trial.

"We believe these data are an early, but exciting, validation of our decision to invest in technological innovation rather than build expensive bricks-and-mortar manufacturing facilities," said MacKay. "The plato platform gives us control over the production and scaling of our investigational gene therapies through an efficient, automated manufacturing system that is designed to be deployed in standard contracted sites around the world. The four-plasmid vector, conditioning regimen with precision dosing and other elements of plato are designed to optimize the safety, potency and durability of our investigational lentiviral gene therapies."

About AVROBIOs ex vivo approach to gene therapyOur investigational ex vivo gene therapies start with the patients own stem cells. In the manufacturing facility, a lentiviral vector is used to insert a therapeutic gene designed to enable the patient to produce a functional supply of the protein they lack. These cells are then infused back into the patient, where they are expected to engraft in the bone marrow and produce generations of daughter cells, each containing the therapeutic gene. This approach is designed to drive durable production of the functional protein throughout the patients body, including hard-to-reach tissues such as the brain, muscle and bone. It is a distinguishing feature of this type of gene therapy that the corrected cells are expected to cross the blood-brain barrier and thereby potentially address symptoms originating in the central nervous system.

Lentiviral vectors are differentiated from other delivery mechanisms because of their large cargo capacity and their ability to integrate the therapeutic gene directly into the patients chromosomes. This integration is designed to maintain the transgenes presence as the patients cells divide, which may improve the expected durability of the therapy and potentially enable dosing of pediatric patients, whose cells divide rapidly as they grow. Because the transgene is integrated ex vivo into patients stem cells, patients are not excluded from receiving the investigational therapy due to pre-existing antibodies to the viral vector.

Analyst and investor event and webcast informationAVROBIO will host an analyst and investor event today, Monday, Feb. 10, 2020, in conjunction with the WORLDSymposiumTM, an annual scientific meeting dedicated to lysosomal disorders, in Orlando, FL. The presentation at the event will be webcast beginning at 7:00 p.m. ET. The webcast and accompanying slides will be available under "Events and Presentations" in the Investors & Media section of the companys website at http://www.avrobio.com. An archived webcast recording of the event will be available on the website for approximately 30 days.

About AVROBIOOur mission is to free people from a lifetime of genetic disease with a single dose of gene therapy. We aim to halt or reverse disease throughout the body by driving durable expression of functional protein, even in hard-to-reach tissues and organs including the brain, muscle and bone. Our clinical-stage programs include Fabry disease, Gaucher disease and cystinosis and we also are advancing a program in Pompe disease. AVROBIO is powered by the plato gene therapy platform, our foundation designed to scale gene therapy worldwide. We are headquartered in Cambridge, Mass., with an office in Toronto, Ontario. For additional information, visit avrobio.com, and follow us on Twitter and LinkedIn.

Forward-Looking StatementsThis press release contains forward-looking statements, including statements made pursuant to the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These statements may be identified by words and phrases such as "aims," "anticipates," "believes," "could," "designed to," "estimates," "expects," "forecasts," "goal," "intends," "may," "plans," "possible," "potential," "seeks," "will," and variations of these words and phrases or similar expressions that are intended to identify forward-looking statements. These forward-looking statements include, without limitation, statements regarding our business strategy for and the potential therapeutic benefits of our prospective product candidates, the design, commencement, enrollment and timing of ongoing or planned clinical trials, clinical trial results, product approvals and regulatory pathways, and anticipated benefits of our gene therapy platform including potential impact on our commercialization activities, timing and likelihood of success. Any such statements in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Results in preclinical or early-stage clinical trials may not be indicative of results from later stage or larger scale clinical trials and do not ensure regulatory approval. You should not place undue reliance on these statements, or the scientific data presented.

Any forward-looking statements in this press release are based on AVROBIOs current expectations, estimates and projections about our industry as well as managements current beliefs and expectations of future events only as of today and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by such forward-looking statements. These risks and uncertainties include, but are not limited to, the risk that any one or more of AVROBIOs product candidates will not be successfully developed or commercialized, the risk of cessation or delay of any ongoing or planned clinical trials of AVROBIO or our collaborators, the risk that AVROBIO may not successfully recruit or enroll a sufficient number of patients for our clinical trials, the risk that AVROBIO may not realize the intended benefits of our gene therapy platform, including the features of our plato platform, the risk that our product candidates or procedures in connection with the administration thereof will not have the safety or efficacy profile that we anticipate, the risk that prior results, such as signals of safety, activity or durability of effect, observed from preclinical or clinical trials, will not be replicated or will not continue in ongoing or future studies or trials involving AVROBIOs product candidates, the risk that we will be unable to obtain and maintain regulatory approval for our product candidates, the risk that the size and growth potential of the market for our product candidates will not materialize as expected, risks associated with our dependence on third-party suppliers and manufacturers, risks regarding the accuracy of our estimates of expenses and future revenue, risks relating to our capital requirements and needs for additional financing, and risks relating to our ability to obtain and maintain intellectual property protection for our product candidates. For a discussion of these and other risks and uncertainties, and other important factors, any of which could cause AVROBIOs actual results to differ materially and adversely from those contained in the forward-looking statements, see the section entitled "Risk Factors" in AVROBIOs most recent Quarterly Report on Form 10-Q, as well as discussions of potential risks, uncertainties and other important factors in AVROBIOs subsequent filings with the Securities and Exchange Commission. AVROBIO explicitly disclaims any obligation to update any forward-looking statements except to the extent required by law.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200210005767/en/

Contacts

Investor Contact: Christopher F. BrinzeyWestwicke, an ICR Company339-970-2843chris.brinzey@westwicke.com

Media Contact: Tom DonovanTen Bridge Communications857-559-3397tom@tenbridgecommunications.com

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AVROBIO Presents Positive Initial Data for its Investigational Cystinosis Program and Plato TM Platform, as well as Positive Data Out to 32 Months for...

Recommendation and review posted by G. Smith

The top 10 ethical issues medical students should be taught – American Medical Association

Posted: February 16, 2020 at 3:50 pm

Medical ethics canaffectthe professional and personal development ofmedicalstudents, but what are the specific present-day issuesmedicaleducators should prepare them for as future physicians? If youre searching for concrete insights, look no further.

Although there isnt one single approach to teachingmedicalethics and professionalism,medicalstudents must understand ethical standards and howtomeet them while theyre still inmedicalschooland as they prepare for medical practice. Thats where modernizing ethics education becomes valuable.

Authors ofThe Essential Role of Medical Ethics Education in Achieving Professionalism: TheRomanellReport,published inAcademic Medicine, offereda comprehensive list of 26 proposed objectives for medical school and residency training programs.

Here are10 of the more emerging ethical issues for medical students to explore, as identified in theRomanellReport, with links to keyresourcesfrom the AMA to helpimprove your understanding.

For more on medical ethics education, readtheRomanell Reportandalsolearn aboutthree big medical ethics scenarios medical school doesnt prepare you for.

Ethical decision-making necessarily takes place within larger systems, and nowhere is that truer than in medicine. TheAMA Health Systems Science Learning Seriesprovides medical students with a clear understanding of how health care is delivered, how health care professionals work together to deliver that care, and how the health system can improve patient care and health care delivery.

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The top 10 ethical issues medical students should be taught - American Medical Association

Recommendation and review posted by G. Smith

Edmonds girl, 4, has beauty that’s ‘more than skin deep’ – The Daily Herald

Posted: February 16, 2020 at 3:50 pm

EDMONDS Harper Foy arrived a month early. Her mom was out gardening when labor began. What Angie and Kevin Foy didnt know could never have suspected was that their baby girl would come into this world with an incredibly rare condition and daunting challenges for life.

The more we share our story, the less people will be scared, Angie Foy said Wednesday as Harper, an energetic 4-year-old, jumped around and dribbled a basketball through the familys kitchen.

Harper doesnt look like most other people. Today, her skin appears somewhat like a burn victims might.

At birth her parents were stunned by her condition. She suffers from harlequin ichthyosis, a severe genetic disorder affecting the skin. Its so rare, the Foys said, that doctors at EvergreenHealth, the Kirkland hospital where she was born Sept. 20, 2015, had never seen it.

Infants with harlequin ichthyosis are born with very hard, thick skin covering most of their bodies. It forms large plates separated by deep cracks. The condition alters the shape of the eyelids, nose, mouth and ears. And that hard skin severely restricts movement, breathing especially.

It builds up over pregnancy. With time it becomes armor-like, said Dr. Deepti Gupta, a dermatologist at Seattle Childrens Hospital and an assistant professor in the University of Washington School of Medicines pediatrics department.

After birth, she said, the plaques break up and slowly lift off.

There is no cure for Harpers condition, Gupta said Thursday. Since those anguishing early days, she has treated the little girl and gotten to know her unbeatable spirit. She has seen the Foys devotion to Harpers care.

Shes spunky, said Angie Foy, 43, who shares with her husband a nearly round-the-clock routine. They bathe Harper around four times each day, for about an hour, and cover her little body with Aquaphor. The ointment keeps her skin from turning scaly.

Shes definitely got an awesome personality, said Kevin Foy, 41. Shes got a great spirit. If she didnt, I dont know if shed be here.

In the past, it used to be very rare for affected infants to survive the newborn period, according to the U.S. Library of Medicine, part of the National Institutes of Health. Risks include respiratory failure, dehydration and life-threatening infection.

Its actually very, very rare, one in about 500,000 births, said Gupta, who saw such a case during her medical training in San Francisco. With improved care in todays neonatal intensive care units, and the use of retinoid medication, more are living longer and longer, Gupta said. Were seeing the earliest of those patients in their 20s and 30s.

Harlequin ichthyosis is caused by mutations in a gene, ABCA12, that normally provides instructions for making a protein needed for normal skin development. Both parents of an affected child have the mutated gene, but typically not the condition.

The Foys both carry the mutated gene. But with a son, 9, and daughter, 20, not affected by harlequin ichthyosis, they had no idea. Angie Foy had an ultrasound exam during pregnancy. The sonogram pictured nothing of concern, they said.

Gupta said skin isnt fully formed until the third trimester of a pregnancy.

Never in a million years, Angie Foy said, could they have foreseen their youngest childs condition.

Vital care at home

Every four hours or so, Harpers parents give her a bath or shower. They have a special tub, with micro-bubble technology thats helpful for people with skin conditions.

Soaks and ointment keep Harpers skin from thickening, turning hard and cracking.

Her body is always making new skin, Angie Foy said. We have to do it or it would build up again.

Its a 24-hour job, said Kevin Foy, who also coaches son Jaxsons fourth-grade basketball, soccer and football teams. Jaxson attends Holy Rosary School in Edmonds, where the Foys said the community has shown great support.

To care for Harper, both parents work from home. Her reddish skin is now paperthin and prone to bleeding even from the little bumps of normal childhood activities. Angie Foy sells real estate. Her husband works in the telecom industry, and is involved in cell tower leases and construction.

On Wednesday, as Harper dashed into her room, she ran into something that resulted in a small cut. There were a few tears as the 4-year-old endured placement of a Band-Aid on the side of her head.

If she falls, she bleeds, her mom said as Harper retreated under a blanket next to her dad on the couch.

As a baby, during a couple months at Seattle Childrens, Harper had surgery to release pressure caused by the plaques. The condition includes the risk of losing extremities due to a lack of blood circulation. Early on, Harper lost the ends of some of her fingers.

Shes a fighter, Kevin Foy said.

Harper accompanies her dad when he coaches her brothers teams, and even has her own whistle.

The prospect of school, though, presents hurdles. Right now, Harper cant go down stairs because the skin on her legs cracks. During a school day, her dad said, shed need to come home after four hours to shower.

We need to get her stronger and bigger, Angie Foy said.

There are other concerns. People with harlequin ichthyosis are sensitive to sun. Theyll always have red itchy skin. And because sweating is impaired, overheating is an issue. Harper also needs more fluids and calories than normal.

They do have higher calorie requirements, Gupta said. The skin is doing a lot more work.

The doctor sees the possibility of independent lives for Harper and others with her condition. Theres no effect on cognitive abilities, said Gupta, who described Harper as a bright child who understands her care routine.

Someday, I think she should be able to live independently, Gupta said. Theyve been doing a lot of skin care from day one. As she gets older, I bet shell take some of it over herself. Its a constant in her life.

Harper in the spotlight

Harper said Wednesday that her favorite toys are a monster truck and a basketball. Shes also part of something unexpected. Late last year, she did a photo shoot with a modeling agency.

That chapter in her life was featured in a Dec. 19 blog, Harper models to inspire the world: Youre Beautiful in Your Own Skin, on the Seattle Childrens Hospital website.

Angie Foy said people often stare at Harper, or avoid getting close because they fear her condition is contagious.

We want her to know she is beautiful, both inside and out, Harpers mom said in the blog, written by Kathryn Mueller.

The Foys have signed a contract for Harper with TCM Models & Talent, a Seattle-based agency, and hope others will get a chance to see the little girl they adore.

The modeling industry is moving toward more inclusion, said Brittni Thoreson, who books kids through the childrens division of the agency. We represent Harper now, Thoreson said. She is seeing more opportunities for those with special needs, people of color, larger-size models and whole families.

Were broadening our horizons. The whole industry is moving toward reflecting real humans, Thoreson said. And Harper has quite the little personality.

Harper was involved in an initial shoot with photographer Elke Van de Velde. Some pictures show her wearing Seahawks gear. In others, shes with doctors and nurses from Seattle Childrens.

Its a fun opportunity for kids to kind of come out of their shells, Thoreson said.

Shes an amazing girl. Part of her energy is just Harper, Gupta said. The message of beauty kind of lies in all of us. Its more than skin deep.

Julie Muhlstein: 425-339-3460; jmuhlstein@heraldnet.com.

Learn more

More about Harper Foy, an Edmonds girl born with harlequin ichthyosis, at: pulse.seattlechildrens.org/harper-models-to-inspire-the-world-youre-beautiful-in-your-own-skin

Learn about the genetic skin disorder harlequin ichthyosis at: rarediseases.info.nih.gov/diseases/6568/harlequin-ichthyosis

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Edmonds girl, 4, has beauty that's 'more than skin deep' - The Daily Herald

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AIIMS to sensitise people on incurable Celiac – The Sunday Guardian

Posted: February 16, 2020 at 3:50 pm

The institute is already carrying out research and it is the main centre not only in India, but in entire Asia.

New Delhi:The countrys premier All India Institute of Medical Sciences (AIIMS), Delhi, will sensitise people about the Celiac disease, which is spreading its tentacles among a large population. The disease is so far incurable and there is no medicine for it. Saturday was Celiac Day.The institute is already carrying out research and it is the main centre not only in India, but in entire Asia. It runs a special clinic for patients with Celiac disease every Thursday afternoon. So far 1,300 patients suffering from disease have been registered with the clinic.AIIMS Director Dr Randeep Guleria said, as per estimates, about 60-80 lakh Indians have Celiac disease, of them only a few have been diagnosed. With increasing awareness, the number of such patients will rise exponentially. There is a need to further increase the awareness about the disease and strengthen infrastructure for widespread availability of the diagnostic tests and also availability of reliable and affordable gluten-free food, he said.The disease occurs because of ingestion of a protein, called gluten, which is present in cereals like wheat and barley. This disease occurs only to those who have genetic susceptibility (presence of specific genes) which develops it. In these patients, gluten protein is not digested completely which leads to damage of the small intestine. Since food is not absorbed properly, patients fail to grow in height and weight, develop diarrhoea, anaemia and weakness of bones. They feel weak and thin.Speaking to this newspaper, Dr Govind Makharia said there is no treatment of the disease so far though the research is going on all over the world, including in AIIMS.The only way treatment is to avoid food products made of wheat and barley, which contains gluten. Early diagnosis is the key. Someone who is having regular complaints of diarrhoea, anemia should get himself diagnosed. It can be done through a blood test, he said.Earlier, he said, it was believed that the disease occurs only in children and seen only by paediatricians. But this is not true. Celiac disease can affect person of any age, including even elederly. Many a time, the patient many not have any obvious symptoms, but they fail to gain weight and their bones remain week and fracture even with minor trauma, he added.

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AIIMS to sensitise people on incurable Celiac - The Sunday Guardian

Recommendation and review posted by G. Smith

Does our blood hold the secrets of our longevity? – The Oakland Press

Posted: February 16, 2020 at 3:49 pm

(Editors note: This article is part of an editorial partnership between Next Avenue and The American Federation for Aging Research (AFAR), a national nonprofit whose mission is to support and advance healthy aging through biomedical research.)

Are you as old as you feel, as old as you look or as old as your birth certificate says? The best answer may be none of the above.

Actually, you may be as biologically old as your blood says you are.

For many years, aging researchers have sought markers of biological age, or biomarkers simple signals that reveal the expected length of your future health. The expected length of future health, after all, is the key biological difference between younger and older people.

Some people have called such markers biological clocks. I dont know about you, but I dont typically calculate my age by thinking of clocks. I think of calendars. So, I prefer to call these hypothetical signals biological calendars.

The importance of these calendars is that they potentially allow researchers to quickly see whether a new drug, diet or other treatment that purports to slow, or even possibly reverse, aging is actually doing so.

Biological calendars of aging can also provide rapid feedback on how a lifestyle change, such as in diet or exercise habits, is affecting your biological age. This insight can motivate people to stick with that change.

Now, as a biological calendar, blood is a devilishly complex stew. Like a stew, it is liquid with lumps in it. We call the liquid plasma; the lumps, cells. Physicians for the past century have been using chemical analysis of plasma and counts of the various blood cell types to diagnose diseases. But we are now entering a brave new world of blood analysis.

Plasma contains not just the dozen or two chemicals that standard laboratory tests measure; it contains a constantly changing mixture of vitamins, nutrients, waste products, hormones and thousands of different proteins.

A hint that plasma might hold secrets about aging has come from research in which the plasma from young mice (or humans!) was found to rejuvenate the function of muscles, brain, heart and other organs of old mice. Dracula, it turns out, may have been onto something.

Recent advances in chemical analysis allow us to measure thousands of plasma chemicals at once, and advances in machine learning are helping make sense of that torrent of information. Plasma proteins may turn out to be just the type of biological calendar we are seeking.

I say this because a recent study of about 3,000 plasma proteins found that a specific combination of 373 of these proteins could accurately tell the age of the person from whom it was drawn. The study was conducted by AFAR Scientific Director Dr. Nir Barzilai with AFAR grantees David Gate of Stanford University and Dr. Sofiya Milman and Dr. Joe Verghese, both from the Albert Einstein College of Medicine in New York.

On top of that, people who were judged by their proteins to be younger than their real age scored better on a panel of physical and mental tests. We dont know yet how well these proteins might predict future health or life, but those studies will soon follow.

Blood cells, in addition to plasma, might have an even more promising aging tale to tell.

Your white blood cells (but not your red cells) contain your DNA, which provides the instruction manual for pretty much everything that goes on in your body. A few years ago, it was hoped that telomeres those protective DNA caps at the ends of your chromosomes from white blood cells might be a useful biological calendar. But telomeres as predictors of future health have not held up to scientific scrutiny.

However, we may have just been looking at the wrong part of our DNA.

Although we tend to think of DNA as little more than a long-coded sequence of DNA letters, there is a bit more to it. In particular, there are a number of small chemical tags that attach to DNA at specific sites to help turn off, or turn on, genes.

In recent years, combinations of particular tags called DNA methylation have, like plasma proteins, been shown to be good predictors of age and health in people and animals. These tags have even been shown to predict time to death and the development of later life diseases in people.

Perhaps even more exciting, a small, very preliminary study of 10 middle-aged men taking a hormone cocktail designed to stimulate the immune system showed a one-and-a-half-year regression in their DNA methylation calendar.

Lets not get too excited about this result yet. It is easy to overinterpret such very preliminary results, as some of the media have done. We have no idea at present what a small backward trend in DNA methylation age means, and this study has more than a few limitations. But it is without doubt provocative.

Stay tuned. Analysis of blood cells and blood plasma may hold secrets of aging that we are just beginning to discover.

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Does our blood hold the secrets of our longevity? - The Oakland Press

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theday.com – New London and southeastern Connecticut News, Sports, Business, Entertainment and Video – theday.com

Posted: February 16, 2020 at 3:49 pm

Picture this: Youre waiting in the checkout line at the grocery store when suddenly you open your ears to the music playing overhead. Its You Belong With Me by Taylor Swift. You know, that song you pretend to hate but secretly love? Anyway, in the middle of trying not to sing along too loudly, you notice Taylor does this thing with the melody. You cant quite put your tongue on what it is, but youve heard it before. You shrug and move on because its your turn to check out.

That is, unless youre musicologist Nate Sloan and songwriter Charlie Harding, whose podcast, Switched on Pop, is devoted to diving into pop music. They seek to answer questions like these: What rhythms make us dance? Why is Max Martin so good at making pop jams? Whats that underwater sound so many songs have been featuring lately? And, of course, what is that THING Taylor Swift does in so many of her songs?

If you ask Sloan and Harding, its a trio of descending notes called a T Drop, and its just one of the many pop-music moments they use to explain different musical concepts in their new book, Switched on Pop: How Popular Music Works, and Why It Matters.

The duo started the podcast in October 2014 and are at 146 episodes and counting. About two years ago, they decided to take their shared interest in music composition and pop music one step further with a book.

Harding said its not that there was a real need for a text, but their listeners kept writing them saying they wished there was a book to help understand core musical concepts.

The book is the most fun music theory class you could ever take, Sloan said.

They wanted to give people an essential guide with pop songs as examples, Harding said, but as one can imagine, choosing which songs to include was not exactly an easy task. They tried to narrow their list down by only choosing songs from the last 20 years ones readers have likely heard before. Hey Ya! by Outkast, Despacito by Luis Fonsi and Daddy Yankee and Oops! I Did It Again by Britney Spears are just a few of the megahits that made the book.

Sloan said the selection process was long, but fun. They wanted to choose songs that had a sense of longevity, which can be hard to predict, he said.

We had such a long conversation about whether Justin Bieber should be in the book, Sloan said.

In addition to educating readers and listeners on musical concepts, the authors started the podcast to share their passion for music composition. They wanted to connect with people around musical conversations, which isnt as easy as you would think for pop. In the books introduction, Sloan and Harding admit to once being music snobs who let their feelings toward the genre prevent them from enjoying it.

Theres so much (pop) has to teach us about our own internal biases, Harding said.

The podcast may be called Switched on Pop, but their purpose is also to help people become switched-on listeners, Harding explained.

Its OK to embrace your taste, he said. Be into what youre into.

Through the podcast, theyve also provided music education to people who may not be able to access it easily. Sloan said theyve gotten emails from educators who have used the show as a learning tool. He said, in a way, pop music was the spoonful of sugar that helped the music-theory medicine go down but then it became the medicine itself.

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theday.com - New London and southeastern Connecticut News, Sports, Business, Entertainment and Video - theday.com

Recommendation and review posted by G. Smith


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