Page 1,197«..1020..1,1961,1971,1981,199..1,2101,220..»

BLA Submitted for Gene Therapy to Treat Hemophilia A – Hematology Advisor

Posted: January 5, 2020 at 4:05 am

Home Topics Bleeding Disorders

BioMarin has submitted a Biologics License Application (BLA) to the Food and Drug Administration (FDA) for valoctocogene roxaparvovec (BMN 270) for the treatment of hemophilia A in adults. This is the first marketing application submission for a gene therapy product for any type of hemophilia.

Valoctocogene roxaparvovec is an investigational adeno-associated virus (AAV) gene therapy that is administered as a single infusion to produce clotting factor VIII. The BLA submission is supported by interim analysis of a phase 3 study and 3-year phase 1/2 data. Results from the ongoing phase 1/2 study showed that bleed rate control and reduction in factor VIII usage was maintained for a third year following a single administration of valoctocogene roxaparvovec.

The FDA previously granted Breakthrough Therapy and Orphan Drug designations to valoctocogene roxaparvovec. The Company anticipates the BLA review to commence in February 2020.

We look forward to working with the FDA as we seek marketing authorization for the potential first gene therapy for hemophilia A, said Hank Fuchs, MD, President, Global Research and Development at BioMarin. Our hope is one day very soon to deliver a transformative treatment that has the potential to change the way hemophilia A is treated.

For more information visit biomarin.com.

This article originally appeared on MPR

Please login or register first to view this content.

LoginRegister

Next post in Bleeding DisordersClose

Excerpt from:
BLA Submitted for Gene Therapy to Treat Hemophilia A - Hematology Advisor

Posted in Gene therapy | Comments Off on BLA Submitted for Gene Therapy to Treat Hemophilia A – Hematology Advisor

Clark University professor Deborah Merrill highlights new views, tips on menopause in book – Worcester Telegram

Posted: January 5, 2020 at 4:04 am

WORCESTER Its been a few years since menopause was a taboo subject, delicately referred to as the change, if referred to at all in polite society. But myths and misconceptions about the process persist.

Clark University sociology professor Deborah M. Merrills new book, Mastering Menopause: Womens Voices on Taking Charge of the Change, (Praeger) highlights how women going through, or who have gone through menopause viewed the phase of life and how their perceptions compared with those of women who were premenopausal.

Menopause is marked by the cessation of periods for one year and typically occurs when a woman is in her 40s or 50s. The average age of menopause in the United States is 51. Hormonal changes start years before, however, a phase known as perimenopause. Menstrual irregularities and symptoms such as hot flashes and mood swings can occur throughout the transition.

Merrill, who is 57, said she was inspired to write the book because her own experience wasnt what shed expected. She didnt suffer from hot flashes, and the symptoms she felt were managed with meditation, a practice she had coincidentally begun. She was also surprised at the emotional changes she went through.

Interviewing a variety of women at different stages of menopause gave Merrill an opportunity to explore attitudes women held and their range of actual experience.

Some women who had not yet begun menopause told her, Im just not going to let hormones affect me, or I hear there are a lot of herbal remedies that are just as good, Merrill said.

Another perception, which was promoted to American women from the 1960s until the early 2000s, was that hormone replacement therapy, or HRT, was the answer to menopause symptoms such as hot flashes, night sweats, insomnia, mood swings, painful sex and genitourinary troubles. It was said to prolong youthful femininity.

Research has found that hormones do affect the brain, particularly the limbic system that controls emotions.

And herbal remedies havent been shown to be effective, although soy can help relieve hot flashes. Meditation and other mindfulness practices also appear to ease symptoms.

After decades of treating HRT like the fountain of youth, concerns were raised about it in 2002 and 2003 when studies linked prolonged use of female sex hormones estrogen and progesterone to an increased risk of breast and ovarian cancer and heart disease.

Some women still rush to hormone replacement therapy to control or prevent all types of symptoms, Merrill said, and their physicians willingly prescribe. Other physicians save HRT only for extreme symptoms, such as when hot flashes interfere with sleep or work. She said the jury is still out on how long it is safe to use HRT.

Merrill discovered another surprise: A lot of the women I interviewed saw real positives from menopause. That wasnt something I expected.

With children grown and financial security likely to be better, midlife was often a time for many women to rethink priorities, start new careers or move in a new direction.

She said the positive attitude was partly the timing, partly the hormones.

Also, contrary to popular belief, some women reported having a better sex life. They didnt have to worry about getting pregnant, they werent as tired from juggling children and jobs, and they reported increased libido after ceasing use of birth control pills, which may have reduced their sex drive.

Some did complain of vaginal dryness and painful intercourse, however, and there were mixed reviews on whether application of topical hormonal cream, which doesnt carry the same systemic risks of HRT, made a difference.

Womens attitudes toward menopause ran the gamut from freedom and relief, at the positive end, to loss of feminine identity at the other.

For them, it was a signaling of their age, Merrill said. They felt they were now an old shriveled-up woman who is no longer sexually appealing. It was really difficult for them.

That feeling may also reflect social views of older women.

We still have this very negative view of women in their 60s and 70s and beyond, Merrill said.

Most women Merrill interviewed said it was important to be able to talk to their husbands or partners about menopause and have them be supportive.

There were cultural differences, Merrill found. Latinas were less likely to discuss it with anyone but their mother or a close female friend. My husband doesnt need to hear about this, they told her.

African-American women interviewed for the book were reluctant to go to their doctor for menopause help. They were still very distrustful of the medical community, especially gynecologists, Merrill said.

Mastering Menopause includes tactics for managing the physical side effects of the transition and outlines holistic techniques designed to combat the mental and emotional symptoms.

Merrill highlighted the following tactics for managing menopause during the holiday season or anytime:

Set realistic expectations for the holidays. Prioritize spending time together with loved ones rather than overdoing on gift giving and decorating.

Practice self-compassion. Your body is undergoing drastic changes and your emotions are probably all over the board. If you are standing in line or stuck in traffic, take a deep breath and exhale. Shut your eyes and say to yourself: May I be happy. May I be well. May I be free from harm. May I live with ease. Relax at the end of the day. You cannot be there for others unless you are there for yourself first.

Diet, exercise and sleep. A good diet high in fresh vegetables and lean protein as well as regular exercise and adequate sleep are a must. A serving of soy three times a day lowers hot flashes and night sweats over time.

Wear comfortable clothing and layers to peel off during a hot flash.

Be present. When you find yourself feeling frantic, stop and take a breath. Notice what you smell, hear, see, feel. If you can stay present, you will be less likely to worry about the future and get caught up in the stress.

Meditate when you can. Even 10 minutes a day will help you to maintain a feeling of calm that can be so hard to cultivate during menopause. Use a self-guided meditation, concentrate on your breath, or follow a guided practice on an app.

Relax. Make time for yourself. Give yourself a break this year. It is the best present you will get.

Follow this link:
Clark University professor Deborah Merrill highlights new views, tips on menopause in book - Worcester Telegram

Posted in Hormone Replacement Therapy | Comments Off on Clark University professor Deborah Merrill highlights new views, tips on menopause in book – Worcester Telegram

Hormone Replacement Therapy (HRT) Market Analysis by Recent Developments and Research 2020 to 2026 – Market Research Sheets

Posted: January 5, 2020 at 4:04 am

Hormone Replacement Therapy (HRT) Market Perspective, Comprehensive Analysis along with Major Segments and Forecast 2020-2026

Hormone Replacement Therapy (HRT) Market is a valuable source of insightful data for business strategists. It provides the industry overview with growth analysis and historical & futuristic cost, revenue, demand and supply data (as applicable). The research analysts provide an elaborate description of the value chain and its distributor analysis. This Market study provides comprehensive data which enhances the understanding, scope and application of this report.

The report presents the market competitive landscape and a corresponding detailed analysis of the major vendor/Hormone Replacement Therapy (HRT) players in the market. Top Companies in the Global Hormone Replacement Therapy (HRT) Market: Abbott Laboratories, Novartis, Pfizer, Mylan Laboratories, Merck & Co., Amgen, Novo Nordisk, Bayer, Eli Lily, Wyeth, Genentech and Others.

Click Here To Get free Sample Copy of the Report:

https://www.marketinsightsreports.com/reports/07111356157/global-hormone-replacement-therapy-hrt-market-size-status-and-forecast-2019-2025/inquiry?source=risemedia&Mode=54

This report segments the Global Hormone Replacement Therapy (HRT) Market on the basis of Types are:

Oral

Parenteral

Transdermal

Others

On the basis of Application, the Global Hormone Replacement Therapy (HRT) Market is segmented into:

Menopause

Hypothyroidism

Male Hypogonadism

Growth Hormone Deficiency

This study mainly helps understand which Hormone Replacement Therapy (HRT) market segments or Region or Country they should focus in coming years to channelize their efforts and investments to maximize Growth and profitability. The report presents the market competitive landscape and a consistent in depth analysis of the major vendor/Hormone Replacement Therapy (HRT) players in the market.

Regional Analysis for Hormone Replacement Therapy (HRT) Market:

For comprehensive understanding of market dynamics, the Global Hormone Replacement Therapy (HRT) Market is analyzed across Hormone Replacement Therapy (HRT) geographies namely: United States, Europe, China, Japan, Southeast Asia, India, Central & South America. Each of these regions is analyzed on basis of market findings across major countries in these regions for a macro-level understanding of the market.

The Hormone Replacement Therapy (HRT) market information for each Competitor Includes:

Company Profile

Main Business Information

SWOT Analysis

Sales, Revenue, Price and Gross Margin

Market Share

Avail Exclusive Discount

https://www.marketinsightsreports.com/reports/07111356157/global-hormone-replacement-therapy-hrt-market-size-status-and-forecast-2019-2025/discount?source=risemedia&mode=54

Important Features that are under Offering and Hormone Replacement Therapy (HRT) Highlights of the Reports:

Detailed overview of Market

Changing market dynamics of the industry

In-depth market segmentation by Type, Application etc

Historical, current and projected market size in terms of volume and value

Recent industry trends and developments

Competitive landscape of Hormone Replacement Therapy (HRT) Market

Strategies of Hormone Replacement Therapy (HRT) players and product offerings

Potential and niche segments/regions exhibiting promising growth

Finally, Hormone Replacement Therapy (HRT) Market report is the believable source for gaining the Market research that will exponentially accelerate your business. The report gives the principle locale, economic situations with the item value, benefit, limit, generation, supply, request and Market development rate and figure and so on. This report additionally Present new task SWOT examination, speculation attainability investigation, and venture return investigation.

Browse The Full Report Description and TOC:

https://www.marketinsightsreports.com/reports/07111356157/global-hormone-replacement-therapy-hrt-market-size-status-and-forecast-2019-2025?source=risemedia&Mode=54

We also offer customization on reports based on specific client requirement:

1- Free country level analysis for any 5 countries of your choice.

2- Free Competitive analysis of any 5 Hormone Replacement Therapy (HRT) market players.

3- Free 40 analyst hours to cover any other data points

About Us:

MarketInsightsReports provides syndicated market research on industry verticals including Healthcare, Information and Communication Technology (ICT), Technology and Media, Chemicals, Materials, Energy, Heavy Industry, etc. MarketInsightsReports provides global and regional market intelligence coverage, a 360-degree market view which includes statistical forecasts, competitive landscape, detailed segmentation, Hormone Replacement Therapy (HRT) trends, and strategic recommendations.

Contact Us:

Irfan Tamboli (Head of Sales) Market Insights Reports

Phone: + 1704 266 3234 | +91-750-707-8687

[emailprotected] | [emailprotected]

This post was originally published on Market Research Sheets

Link:
Hormone Replacement Therapy (HRT) Market Analysis by Recent Developments and Research 2020 to 2026 - Market Research Sheets

Posted in Hormone Replacement Therapy | Comments Off on Hormone Replacement Therapy (HRT) Market Analysis by Recent Developments and Research 2020 to 2026 – Market Research Sheets

Cathy, 31, tells of the agony she suffered as she went through menopause at just 13 – The Sun

Posted: January 5, 2020 at 4:04 am

CATHY Phillips-Brady, 31, a producer and musician, lives in London with her husband James, 30, a musician.

Bent over in agony and feeling faint, I asked the teacher if I could be excused before dashing to the sick bay. I was only 12, but after starting my periods the year before Id endured almost non-stop bleeding and pain. I didnt realise it at the time, but I was having perimenopausal symptoms.

4

4

"When my periods first started aged 11, everything was normal. But the bleeding became heavier then didnt stop for months on end, and the cramps in my lower back were debilitating. I had to miss days of school as well as trips to the cinema or dinner with friends as I was in too much pain, or because the bleeding was hard to control. Worried about my health, my mum booked an appointment at the GP in early 2000.

"I was prescribed mefenamic acid to alleviate my heavy periods and, after taking it daily for a few months, the bleeding eventually stopped. I was thrilled finally I didnt have to spend hours curled up in bed with a hot water bottle or lie to get out of swimming classes.

"Another year passed and my periods still didnt return, but the doctor assured me it was normal for a girl my age to have an erratic menstrual cycle. Plus, going to an all-girls school, we often chatted about our periods and some of my friends hadnt even started theirs yet, so I didnt think too much of it.

"However, aged 14, I started experiencing hot flushes. I thought I had a fever, but one day during a history class in winter I was so hot I started stripping off, but even in a T-shirt I was sweating. I had to have a cold shower twice a day, but doctors said everything was fine and my mum didnt know how else to help.

4

"By 15 I was so fed up I went back to my GP and put my foot down I knew my own body and that something was wrong. Thankfully, they referred me to my local hospital in Maidenhead, which ran some blood tests and then referred me to a gynaecology specialist at Londons St Marys Hospital for more blood tests and an ultrasound.

"Over the next two years, I was tested for everything from cervical cancer to blockages in my Fallopian tubes and problems with my glands, but still no one could tell me what the issue was. At one of many ultrasounds, a nurse assured me Id probably still be able to have kids. Id never thought for a second that I could be infertile. She was only trying to help, but it made me worry. I loved kids and had always imagined them as part of my future.

"During this time my symptoms intensified and I had night sweats, short-term memory problems, mood swings, anxiety and thinning hair. Finally, in 2005, aged 17, I was diagnosed with premature ovarian insufficiency a condition where the ovaries stop producing eggs early. I was told I had no eggs left in my ovaries and, as I was now going through the menopause which doctors believed I had started at 13 I wouldnt be able to have kids naturally. They didnt know why this had happened to me.

"Hearing the word infertile, I was devastated. I was only 17 and it was a huge blow. It took a while before the news really sunk in and, while my friends and family were so supportive, I felt a real sense of loss.

4

"I was put on a different contraceptive pill, which replaced some of my lost oestrogen and eased my symptoms, before starting hormone replacement therapy. But I wasnt offered any sort of counselling and I felt very alone.

"Going through my 20s knowing I couldnt have children was tough, especially when my friends started having babies of their own. I longed to start my own family, but I accepted it would never happen for me naturally. When it came to dating, I was always upfront about having gone through the menopause. Some guys were understanding, but others werent so things didnt progress any further between us.

LOVE SEAT Jacqueline Jossa lounges on 4.5k sofa she got free & Molly-Mae's bagged one too

ROYAL ON REPEAT How Prince George wears the same 55 shirt to all formal occasions

Exclusive

OLL LOVED UP Olly Murs on the girl who's changed his life and why X Factor should end

COP A LOOK Woman revamps her bathroom by remaking floor out of 1p coins

STAY DRY IN JAN If youre giving up the booze this month, heres how to stay on the wagon

MYSTIC MEG January 5: The moon adds an extra passion stop to a public transport trip

"I met my husband James, now 30, in 2013 when we were singing in an orchestra together. I told him on our first date that I couldnt have kids, and he was so supportive, saying that he still wanted to see where things would go between us.

"We got married in August 2018 and, as I can still carry a child, were looking into egg donation. If that route doesnt work, then well try to adopt.

"Its been a long struggle and I still get menopausal symptoms. I wish Id been able to freeze some of my eggs before they ran out, but in spite of everything Ive faced, I cant wait to start my journey to become a mum.

PREMATURE OVARIAN INSUFFICIENCY

Premature ovarian insufficiency (POI) is a condition in which a womans periods stop before the age of 40.

POI affects 1 in 100 women in the UK.

Source: NHS Visit Daisynetwork.org for help and support.

Continued here:
Cathy, 31, tells of the agony she suffered as she went through menopause at just 13 - The Sun

Posted in Hormone Replacement Therapy | Comments Off on Cathy, 31, tells of the agony she suffered as she went through menopause at just 13 – The Sun

The Top Five News Stories In Iceland Of 2019 – Reykjavk Grapevine

Posted: January 5, 2020 at 4:04 am

2019 was an eventful year for news, and some of it was actually good news, too. There were some stories, however, that stood above the restthey may have attracted international headlines, profoundly affected the political landscape, or proved lively and resilient in the public discourse.

While this list is by no means definitive, these were the stories that, from the point of view of this news desk, truly stood out in 2019.

WOW Air goes bankruptNobody goes bankrupt overnight, as one would-be passenger who got her flight cancelled told us. Thats on observation that still resonates as were still feeling the effects of Icelands discount airline suddenly ceasing all operations last March. There was great uncertainty, as these cheap flights dropped off the map just as the tourist high season began, with worries about how this might affect the economy. Looking back now, the economy did just fine, even if much-lauded announcements of impending budget airlines have yet to materialise.

SharkgateTwo fishermen start a Facebook Live video of them on the job.At one point, they caught what was obviously a juvenile shark and cut its tail off before dropping back into the sea with a mocking try and swim now you little bastard! Unfortunately for them, someone was recording the stream, and the subsequent video went viral. The backlash against them spread across international headlines, the fishermen lost their jobs, and then public discourse raised questions about proportionality of response.

Gender determination lawIn a major step for the rights of trans and nonbinary Icelanders, Iceland passed a law that was years in the making. It granted people the freedom to register their actual gender; not just the one they were assigned at birth. It also eschewed the tedious gatekeeping of having to endure half a dozen interviews over months or longer just to get access to hormone replacement therapy and other medical care that some trans people want. It was a major step forward for Iceland, even if some people got left behind: intersex children are still not protected from unnecessary cosmetic surgery on their genitals, and nonbinary folks will have to wait at least a year before they can register as X in the gender field at the National Registry.

The Fishrot FilesThis bombshell dropped in the last month of 2019 but still proved one of the most important stories of the year out of Iceland. A whistleblower who used to work for the Icelandic fishing giant Samherji handed over 30,000 documents to Wikileaks, detailing how the company bribed Namibian officials to get access to massive fishing quotas, and then subsequently squirreled the money into tax havens. In Namibia, this led to immediate sackings of the officials involved and the arrest of half a dozen people facing corruption charges. In Iceland, no such response has been forthcoming, but it re-ignited the debate about the importance of a new constitution, and shone a spotlight on the corruption within our own ranks.

Cyclone hits IcelandAnother December story, this story became very important for primarily two reasons. A literal cyclone touched down on Iceland, delivering snow and wind speeds unprecedented in this country. While Reykjavk escaped relatively unscathed, the countryside did not fare as wellpower outages, disrupted phone service, blocked roads, missing livestock and at least one death were reported across North Iceland. It was a sobering reminder of how the climate crisis is sparing nobody, no matter how remote. Also, as even the President of Iceland pointed out, it was a reminder that rural Icelanders often do not have access to the same resources that we Reykjavkings take for granted, and we need to do better.

Related

Link:
The Top Five News Stories In Iceland Of 2019 - Reykjavk Grapevine

Posted in Hormone Replacement Therapy | Comments Off on The Top Five News Stories In Iceland Of 2019 – Reykjavk Grapevine

A New York Times column on ‘Jewish genius’ draws criticism for linking to a debunked University of Utah study – Salt Lake Tribune

Posted: January 5, 2020 at 4:03 am

When it was first published last week, a controversial New York Times column about the secrets of Jewish genius linked to a 2005 study from a researcher labeled an extremist, revered by white supremacists and discredited by scientists and who, for years, worked as a distinguished professor at the University of Utah.

Citing the late U. anthropologist Henry Harpending, expectedly, touched off criticism. Hours after it appeared online, The Times commentary was updated with an editors note saying it had been a mistake to mention the study, which has been widely questioned and long seen as an argument of racial superiority.

The note suggests that conservative columnist Bret Stephens did not know that Harpending promoted racist ideas. It also says Stephens was not endorsing the study or its authors views but acknowledges that his reference to the research, nevertheless, left an impression with many readers that Mr. Stephens was arguing that Jews are genetically superior. That was not his intent.

The paragraph Stephens wrote about Harpendings research has since been deleted online. And on Friday, the University of Utah deleted a complimentary memorial post from its Department of Anthropology that had said Harpendings scholarly and personal footprint will be long lasting in the field.

The U. also noted in response to the column that none of the three authors of the paper Harpending, Gregory Cochran or then-student Jason Hardy work at the school any longer. Harpending was there from 1997 until he died of a stroke in 2016.

Statements attributed to Henry Harpending that promote ideas in line with white nationalist ideology stand in direct opposition to the University of Utahs values of equity, diversity and inclusion ... " said Annalisa Purser, the universitys spokeswoman.

As such, we will meet these words with ours: Racist views and rhetoric that position one race as superior to another are inaccurate and harmful," she said. "The University of Utah is bolstered by its diversity, which allows individuals from different backgrounds and perspectives to come together to address challenges in new and creative ways.

Neither Cochran nor Hardy could not be reached by The Salt Lake Tribune for comment. Its unclear why none of the researchers faced censure while at the university for publishing the piece, though Purser added, Speech even when it is racist is protected by the U.S. Constitution and is necessary for the free exchange of ideas.

This has been a very painful time already for Jews in the United States, said Amy Spiro, a Jewish journalist whose work has been published in Variety, Jewish Insider and The Jerusalem Post. And then this column came out, she told The Tribune in a phone interview. Its just generated a lot of controversy. It doesnt seem like this is helpful in any way.

In their disputed study, the U. researchers focused on Ashkenazi Jews, or those who settled in central and Eastern Europe (as opposed to Spain or the Middle East). Among supremacists, the group is often seen as pure because many are white.

Harpending, Cochran and Hardy argue that Ashkenazi Jews have higher IQs, on average, than the general public (including other non-Ashkenazi Jews). Their theory is that in medieval times, individuals in the faith group in Europe were pushed into finance jobs because of the Christian prohibition of usury, or lending money for interest. Over time, many became rich and had more surviving children than poorer families who worked on farms. They also married within the community and stayed fairly isolated.

The University of Utah has long been known as an expert in genetic research, but this paper Natural History of Ashkenazi Intelligence is typically seen as a low point in that expertise. The authors created their own algorithm for determining genetic makeup and cited several scientists also viewed as racist.

The researchers have been criticized on and off since the study came out in 2005 and was published in The Journal of Biosocial Science the next year; that publication was previously called The Eugenics Review up until the 1970s. Eugenics is the controversial pseudo-science popular among Nazis for improving the human race by forced sterilization of poor people.

The Times piece on the study was largely uncritical beyond that; it was written by reporter Nicholas Wade, who later wrote his own book on genetics that shares some ideas with Harpending and Cochran. (Cochran had previously written about incorrect claims that being gay was caused by an infectious disease.)

The head of New York Universitys human-genetics program said: Its bad science not because its provocative, but because its bad genetics and bad epidemiology.

In a 2007 press release about later research by Harpending, the school acknowledged his 2005 paper had created a stir and that critics had questioned the quality of the science.

Harpending continued to speak, though, including at white supremacist conferences, about his also inaccurate ideas that black people are genetically prone to be lazy. His profile on the Southern Poverty Law Centers page lists him as a white nationalist and an extremist who believed in eugenics.

In other words, as an anthropologist looking around the world, he said in 2009 at the Preserving Western Civilization conference, what I see is that men work and produce things when theyre forced into it, and when theyre not, they quit. And Im thinking about, you know tribes in central Africa, but you know its true in Baltimore too, right?

His obituary noted he came to Utah from Pennsylvania State University after earning his doctorate at Harvard.

Stephens, who is Jewish, ultimately argues in his column that theres a cultural not genetic explanation for Jewish genius, stemming from Judaisms religious tradition of encouraging believers to not only observe and obey but also discuss and disagree. He also believes group members became more innovative and creative by typically being in the minority wherever theyve lived.

His original mention of the study read: The common answer is that Jews are, or tend to be, smart. When it comes to Ashkenazi Jews, its true. Ashkenazi Jews have the highest average I.Q. of any ethnic group for which there are reliable data, noted one 2005 paper. During the 20th century, they made up about 3 percent of the U.S. population but won 27 percent of the U.S. Nobel science prizes and 25 percent of the ACM Turing awards. They account for more than half of world chess champions.

That data on awards is not technically wrong, though it broadly counts anyone as Jewish who has a grandparent with ancestry in the faith.

Stephens mentioned Albert Einstein and Franz Kafka and Karl Marx as prime examples of Jewish intelligence, before asking: How is it that a people who never amounted to even one-third of 1 percent of the worlds population contributed so seminally to so many of its most pathbreaking ideas and innovations?

His use of the paper is just stunning, Kennedy told The Tribune, saying the study was obviously a main tenet of Stephens argument, and not a minor point, like the editors note suggests. I think it should have been killed before it ever got published.

In the later edits, all references to Ashkenazi Jews (which also appeared in two other places in the column) were removed. Many have questioned why Stephens referred to Ashkenazi Jews at all if he didnt agree with the paper and was generally talking about Jewish culture, and not superiority.

What was even the point of the column? Spiro asked. Its confusing.

Stephens joined The Times in 2017, after winning a Pulitzer Prize for his work at The Wall Street Journal in 2013 and serving as editor in chief of The Jerusalem Post. He has previously come under fire for bullying a professor who called him a bedbug.

Some have called for his resignation, particularly liberal readers who disagree with his more conservative pieces, but Kennedy believes the Jewish genius piece is a new low. The associate professor, who teaches ethics in journalism at Northeastern, said the commentary needed more than an editors note about the concerns raised.

Read the original here:
A New York Times column on 'Jewish genius' draws criticism for linking to a debunked University of Utah study - Salt Lake Tribune

Posted in Human Genetics | Comments Off on A New York Times column on ‘Jewish genius’ draws criticism for linking to a debunked University of Utah study – Salt Lake Tribune

Digid8 and the Emergence of DNA Matchmaking – Study Breaks

Posted: January 5, 2020 at 4:03 am

Post Views: 417

Dating apps such as Tinder, Bumbleand Plenty of Fish (POF) are changing dating patterns and habits. Instead of traditional ways of courtship, individuals are meeting others online. Today, millions of users download such apps to connect with other singles. Matching on these apps rely on an algorithm, in which a score is assigned to each user. This score depends on the number of swipes or likes received. People with similar scores are matched together.

However, if that wasnt enough, imagine if a dating app was to determine matching based on each persons genetics. Harvard geneticist George Church announced that he has decided to partner with Barghavi Govindarajans digid8 to create a DNA-based dating app. The products end goal is to avoid the births of people who could inherit severe genetic diseases. Matches are determined by whether individuals are dominant or recessive carriers of certain genes. Incompatible or screened-out matches are those that, in the event of pregnancy between the two people, would result in severe illnesses that could lead to premature death and strenuous pain for the offspring. Approximately 5% of the matches would be ruled out, but according to Church, about 7,000 genetic diseases such as Tay-Sachs disease, cystic fibrosis, sickle cell anemia and thalassemia would be eliminated by using digiD8. This would lead to huge savings in medical costs and expenses. It would also play a significant role in affecting health and longevity in the long run.

After Churchs 60 Minutes appearance, many are outraged about the potential harms of digiD8. Many liken his idea to eugenics, a set of beliefs that promotes the improvement of the genetic quality of the human population through means of forced sterilization, breeding and extermination. This ideology was ultimately promoted by the Nazis to create a pure Aryan race. Fordham ethics professor Elizabeth Yuko claims that by having a DNA-based app, humans would be classified into a group of acceptables and another that was classified as the others. A slippery slope would emerge as trans people, people of certain races, along with the disabled and chronically sick would be further socially stigmatized. They would be targeted for being different and diversity would be reduced. Standards of perfection would also be imposed, instead of accepting the beauty in human flaws and the uniqueness in individuals appearances.

Despite that, Church claims that the app had no intentions of trying to categorize certain individuals as inferior, and that unlike eugenics, which was forced on different human beings, the app will rely on its users consent.

Like other forms of tech, there are additional concerns regarding privacy and data security. Many are unsure if the company would misuse the results for their own economic gain. App developers could utilize genetic research about complex traits to program the app for their own purposes. The data could also be sold to biomedical companies and firms without informing users.

Another valid concern pertains to data protection, as many DNA testing companies such as MyHeritage Ancestry have faced scrutiny for data breaches. The usernames, passwords, emails and account information of over 92 million users were compromised. Thankfully, no actual genetic data was leaked. If information about peoples DNA and genes were leaked, hackers could profit illegally from selling and copying genetic code, as well as individuals health histories. In the FAQ for the app, Church has stated that the app would rely on encryption and blockchain to keep the data safe.

The app is still a work in progress. When digiD8 is finally released, it will be interesting to see how people respond to it. There are some who might be interested in finding love based on genetics. Others who are less interested about reproduction might overlook such an app. Pending research would have to be done to observe the correlation between love and DNA.

Besides that, its important to observe how law will respond to this technological catalyst. How will laws address issues that arise from the dating app?

Here is the original post:
Digid8 and the Emergence of DNA Matchmaking - Study Breaks

Posted in Human Genetics | Comments Off on Digid8 and the Emergence of DNA Matchmaking – Study Breaks

Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows – Gaucher Disease News

Posted: January 5, 2020 at 4:03 am

Treatment with ambroxol a medication used to treat respiratory conditions associated with excessive mucus reversed bone damage and decreased the excessive liver and spleen volume of a 5-year-old girl with Gaucher disease (GD) type 1, a case study shows.

Titled Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease, the case study was published in the Journal of Human Genetics.

Mutations in the GBA gene in people with Gaucher alter the formation of the beta-glucocerebrosidase enzyme, which in turn leads to the toxic buildup of a lipid (fat) called glucocerebroside in the spleen, liver, lung, bone, and brain cells.

Ambroxol, an available cough and cold medicine, is known to boost beta-glucocerebrosidase activity. It works as a chaperone therapy, a type of small molecule that binds to faulty enzymes and helps them fold properly. High-dose oral ambroxol also has shown promise in easing the neurological symptoms of patients with GD type 3.

Enzyme replacement therapy (ERT) has been the mainstay treatment for people with GD type 1. It has led to significant improvements in complications such as the abnormal enlargement of abdominal organs, called hepatosplenomegaly, and blood disorders. However, it has shown limited efficacy to the progressive skeletal manifestations in GD, the researchers said.

A team from China now described the case of a 5-year-old girl with complaints of severe pain in both legs, which restrained her from walking independently. According to her parents, the child had intermittent GD-related bone crises over two years. These were worse in the winter and eased upon several days of rest.

Clinical examination revealed enlargement of the girls spleen and liver. Imaging showed that both femurs, or thighbones, had aseptic necrosis, meaning that the bone tissue had died due to lack of blood supply. Aseptic necrosis is a well-known skeletal complication in GD.

Results of abone marrow biopsy and a measurement of beta-glucocerebrosidase activity levels were consistent with a diagnosis of GD. Genetic testing showed the girl had two distinct mutations in the GBA gene.

Given her age and manifestations, ERT and substrate reduction therapy were both contraindicated. After obtaining parental consent, doctors enrolled the patient in a compassionate use clinical protocol for ambroxol.

The girl received up to 15 mg/kg of daily ambroxol for three years without any side effects. No further bone crisis was seen after treatment initiation. Importantly, ambroxol reduced liver and spleen volume, and slightly increased white and red blood cell counts after two years.

In addition, disease severity gradually decreased after almost three years, as measured by the blood activity of chitotriosidase, a GD biomarker.

Annual imaging also showed a reversal of damage in the top part of the girls femurs, allowing the near-normal growth of the femoral heads.

Cellular assays revealed increased activity of beta-glucocerebrosidase in the patients lymphocytes, a type of white blood cell. The scientists suggested that ambroxols small size might contribute to its efficient penetration into bone tissue as indicated by the observed skeletal improvements.

In conclusion, this is the first report describing the therapeutic effects of oral ABX [ambroxol] on the bone and hematological manifestations of a child with an established [GD1], the scientists said.

Randomized and controlled clinical trials are necessary to further assess and confirm these findings, they added.

With over three years of experience in the medical communications business, Catarina holds a BSc. in Biomedical Sciences and a MSc. in Neurosciences. Apart from writing, she has been involved in patient-oriented translational and clinical research.

Total Posts: 24

Jos is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimers disease.

View original post here:
Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows - Gaucher Disease News

Posted in Human Genetics | Comments Off on Ambroxol Reverses Bone Damage in Girl With GD Type 1, Case Study Shows – Gaucher Disease News

Etched in DNA: Decoding the secrets of the past – Christian Science Monitor

Posted: January 5, 2020 at 4:03 am

The study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

A decade ago, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. Their findings ushered in a new decade of discovery and understanding. The sequence was not only a marvel of new technology; it shed light on a debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.Paleogeneticists are also digging into ancient genomes looking for biological answers to those questions.

But piecing together a fuller story will take a multidisciplinary approach.Im done with who questions, says archaeology professor John Shea. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how.

Human origins research. The phrase probably evokes an image of dusty scientists hunched over in the sun, combing the ground for scraps left behind by people of millennia past. The field has long been the realm of stones and bones, with test tube-filled laboratories playing second fiddle.

But thats changing. Paleoanthropology has found a second home in the lab, as geneticists have joined the field, extracting DNA from fossils in search of new insights into early human history.

Its white coat science, says John Shea, a professor of archaeology at Stony Brook University. Its not bluejeans and khaki shirt science.

Over the past decade, the study of ancient DNA has enriched our evolving tale of early human history. In the field, its resolved long-standing debates, raised new questions, and added nuance to our perpetual quest to answer what it means to be human.

I cant tell you how many times Ive had to rewrite lectures because of new paleogenetics revelations, says Jennifer Raff, an anthropological geneticist at the University of Kansas. I cant wait to see what the next decade brings.

Ancient DNA, or aDNA, was just beginning to catch on when Dr. Raff finished her dual Ph.D. in anthropology and genetics in 2008. Fragments of ancient genomes were being sequenced, analyzed, and discussed. But Dr. Raff was unsure if science could ever recover full genomes from long back in time.

But then it happened. The following year, a team of scientists announced that they had pieced together the full genome of a 38,000-year-old Neanderthal. They published their findings in May 2010 in the journal Science, ushering in a new decade of discovery and understanding.

The sequence was not only a marvel of this new technology; it shed light on a long-standing debate about how these archaic humans may have interacted with our direct ancestors.

The two had interbred. The idea had circulated in some circles, but had long been considered the musings of a lunatic fringe by many in the field. But now, there it was, etched in the DNA.

For decades, scientists categorized hominins based on the differences in the shape of their bones. But DNA has brought a faster way to get more definitive answers about the identities of ancient peoples.

Im done with who questions, Dr. Shea says. Ancient DNA is freeing archaeologists up to start looking at the really interesting questions. And the most interesting question is how. How did a group of ancient people move across a forbidding landscape? How did they survive through frigid winters?

Those questions can help to animate our view of the past, and deepen our understanding of where we come from. Paleogeneticists are digging into ancient genomes looking for biological answers to those questions, too, but piecing together a fuller story will take a multidisciplinary approach, says Dr. Raff.

Theres a whole field of anthropology that talks about what makes us human, and thats not just our biology, she says. Its also culture and technology and behavior and ecology. Theres just so much that goes into understanding the past.

The revelation that Neanderthals interbred with early Homo sapiens has raised some fundamental questions about what it means to be human.

Traditionally, the line between species is defined by whether they can interbreed and produce viable offspring that can, in turn, produce viable offspring. But, due to similarities in the bones and now the genetic evidence, some anthropologists have labeled Neanderthals as Homo sapiens neanderthalensis and anatomically modern humans as Homo sapiens sapiens.

One such researcher is Fred Smith, professor emeritus of anthropology and biology at Illinois State University. He argues it from a morphological point of view, too.

You would never mistake a Neanderthal for anything but a human, Dr. Smith says. It might not be a human that youd like to go on a blind date with, but if you saw one, you wouldnt think of it as not being human.

By that logic, many researchers refer to other members of the genus Homo as human, too. But some say it might be our understanding of speciation that needs revising, not the distinctions among species in the genus.

The pattern of evolutionary thinking is that you have a point in time where two lineages diverge, after which they do not cross again, says Rick Potts, director of the Smithsonian National Museum of Natural Historys Human Origins Program.

But that branching model of evolution and speciation is proving to be too simplistic across biology, with hybridizing appearing among present-day creatures, too. Evolution and the formation of species are a process, not an event, he says.

Regardless of whether we can call Neanderthals one of us, the revelation of prehistoric trysts between the two peoples has changed our perception of those other humans.

Get the Monitor Stories you care about delivered to your inbox.

Before ancient DNA came on the scene, Neanderthal was often lobbed as an insult and sometimes still is. When archaeologists suggested that they had found Neanderthal art and musical instruments, they were dismissed quickly, as the logic went that only Homo sapiens could have the cognitive abilities for that level of creativity. But with the revelation that we are similar enough to them that we could interbreed, that kind of research has been entertained and discussed more frequently.

I think it gives a very important correction on those who would see the Neanderthal simply as incapable of thought, incapable of being clever, Dr. Potts says. And it also, I think, gives a bit of humility to ourselves for those who are willing to look at it.

Read this article:
Etched in DNA: Decoding the secrets of the past - Christian Science Monitor

Posted in Human Genetics | Comments Off on Etched in DNA: Decoding the secrets of the past – Christian Science Monitor

The End of Infertility Is in Sight – UCSF News Services

Posted: January 5, 2020 at 4:03 am

Fertility expert Marcelle Cedars discusses the future of reproductive medicine.

By Ariel Bleicher UCSF Magazine

Advances in medicine and public health have dramatically extended the human lifespan. Our hearts, lungs, and other vital organs now last 79 years on average. For women, however, the ovaries which stop functioning at an average 51 years remain a stubborn exception. That may soon change, says fertility expert Marcelle Cedars, MD, during a conversation on the future of reproductive medicine.

There are two aspects. One is qualitative. As a woman ages, the quality of her eggs meaning their capacity to make a healthy baby declines. We understand very little about what causes this decline. If we understood that process better, we could dramatically impact fertility success rates.

The other aspect is quantitative. Women are born with a finite number of eggs, and they lose those eggs throughout their lifetime. In fact, that rapid decline in egg numbers starts even before birth. Theres a peak in utero of five to six million eggs. At birth, a woman has only about 1.5 million eggs; at the time of puberty, about 500,000. Through genetics research, were learning that the rate of this decline and the variability from woman to woman is largely driven by ones genes.

Exactly. But what if we could use your genetics and other biological data to understand your unique fertility risks and develop therapies specifically for you or for groups of women like you? This approach is called precision medicine. It has made a huge impact in the world of cancer in terms of improving survival rates. But in the field of reproductive health, precision medicine is still in its infancy.

Potentially. If we can pinpoint the mechanisms of ovarian aging, we could potentially develop a therapy that enables you to still have healthy eggs into your 50s, possibly your 60s. But just because we can do something doesnt always mean we should do it. We know that as women get older, pregnancies are more complicated. You have higher risk for things like high blood pressure, diabetes, and preterm labor. There are many downstream implications, both for the mothers health and the childs.

I dont think the goal should be to enable women to get pregnant into their 60s. Rather, we want women to have the best reproductive lifespan possible to be able to have children when they want to and to not have children when they don't want to and to have a society that supports women across that spectrum.

Were starting to believe that some of the same cellular mechanisms that underlie general aging might also control ovarian aging. This revelation makes the ovary even more interesting to study because its early demise could be a unique window into the bodys aging process. If we can identify cases of accelerated ovarian aging and understand the underlying causes, we might be able to improve not only reproductive function in individual women but also overall health and longevity for all women.

Samesex couples having genetically related children is probably on the horizon. Scientists are learning how to take skin cells or blood cells and turn them into stem cells, which can then be turned into eggs or sperm. Thats not science fiction; its already happening. We just need to figure out how to do it well and safely in humans.

Well probably also see germline engineering. Thats the process of editing genes in reproductive cells or embryos. It has the potential to cure disease before birth. This technology is here. But will society be ready to accept it? A lot of questions need to be answered before its put to use. In addition to technical hurdles, there are innumerable social issues. For instance, if we can eliminate a certain disease, will there be less focus on treatments for people who still have the disease? And what about access to care and social equity? Who would be able to afford these procedures? How will they be applied?

Restrictions are currently preventing the U.S. government from funding research that involves the manipulation of human embryos. As a result, funding for reproductive science is low, which has driven a lot of experts out of academia. If we want to see a revolution in reproductive health, like whats happening with precision cancer medicine, we need to invest in the development of scientific knowledge that will move this field forward.

Go here to read the rest:
The End of Infertility Is in Sight - UCSF News Services

Posted in Human Genetics | Comments Off on The End of Infertility Is in Sight – UCSF News Services

Page 1,197«..1020..1,1961,1971,1981,199..1,2101,220..»