China claims to have created the World’s first designer twins

China’s claim of using gene-editing to create the World’s first designer babies have stirred outrage in the scientific world. The researchers fear that it will stall their efforts to translate gene-editing technology into safe treatments for genetic diseases.

He Jiankui is a Stanford and Rice University-trained physicist and claims to have used CRISPR-Cas9 to delete the embryos’ CCR5 gene (C-C motif chemokine receptor 5), which is linked to resistance to HIV infection and the twins were born a few weeks ago with innate immunity to HIV, the virus that causes AIDS.

He Jiankui

In 2010, when Jiankui was a Rice University student, he already published a paper on details about gene-editing using the bacterial immune system CRISPR. It was well before Geneticist Jennifer Doudna co-invented the groundbreaking current technology for editing genes, called CRISPR-Cas9.

He currently works at the Southern University of Science and Technology of China in Shenzhen and has posted videos to YouTube about his editing techniques. The research is not yet published in a peer-reviewed journal and is, however, yet to be verified by outside scientists and researchers.

The news stunned the scientist and researchers all over the globe as they prepare to gather in Hongkong for the Second International Summit on Human Genome Editing from November 27-29, 2018. David Baltimore, Nobel laureate and chair of the organizing committee said, “I don’t know the details.”

 “We don’t know what will be said,” when He speaks at a session on human embryo editing on Tuesday, November 27, 2018.

There are two main issues with the existing gene-editing technique if used to create ‘designer babies’ in the real world. The first is mosaicism, in which the edited gene does not make it way into every cell of the embryo and second are off-target effects, where other parts of the genome may get deleted accidentally, and the consequences remain unknown.

Before genome editing is used as medical treatment, it is essential that the issues of mosaicism and off-target effects are resolved. Long-term follow-up of babies who have had gene-editing done is needed to know about long-term effects.

It is also unclear that why this particular gene was editing in the twins, but reports coming out of China suggest that the father was HIV positive, but his infection was under control and mother was HIV negative. The scientists also fail to understand that why he chose the HIV gene for editing, as there already exist proven treatments to prevent HIV-positive parents from infecting their children.

There are also specific risks of having a disabled CCR5 gene, which includes a higher risk of West Nile virus infection and dying from Influenza.

The summit’s organizing committee issued a statement Monday saying they had only just learned of He’s research in Shenzhen, China. “Whether the clinical protocols that resulted in the births in China conformed with the guidance” of leading scientific bodies for conducting clinical trials of heritable genome editing “remains to be determined,” the statement said. “We hope that the dialogue at our summit further advances the world’s understanding of the issues surrounding human genome editing. Our goal is to help ensure that human genome editing research is pursued responsibly, for the benefit of all society.”

Meanwhile, Chinese officials have condemned He’s research and strongly oppose the use of gene-editing technology in humans. gene-edited babies are prohibited in China. The Ethical Guiding Principles for the Research of Human Embryonic Stem Cell which was published by the Chinese government in 2003 states that scientists are allowed to conduct genetic editing to human embryos only for research purposes, but the time for their in-vitro breeding shall not exceed 14 days from the date of fertilization or nucleus transplant.

Here is a YouTube video showing He giving information about the twins

Other YouTube videos can be watched here

Statement from the Organizing Committee on Reported Human Embryo Genome Editing

Ob/Gyn Updated Facebook page

Fascinating video of HIV life cycle in colors

Janet Isawa, Ph.D.  Assistant Professor in Department of Biochemistry at the University of Utah in collaboration with other Human immunodeficiency virus (HIV) researchers round the globe has created an interesting, educative website ‘Science of HIV’ for easy understanding of HIV infection.

HIV is the causative agent of AIDS (Acquired Immunodeficiency Syndrome), first recognized by the United States Centers for Disease Control and Prevention (CDC) in 1981. Since its initial discovery, HIV/AIDS has risen to become a global pandemic, has caused an estimated 35 million deaths worldwide.

According to CDC, about 36.7 million people were living with HIV around the world and there were 1.8 million new cases of HIV diagnosed in 2016.

The website uses colorful animations and illustration to educate a wide range of audience about how HIV infects human body, it’s life cycle and why it is so difficult to cure the infection.

The project is funded by the National Institute of General Medical Sciences (NIGMS) and was carried out as part of the CHEETAH and HIVE consortia.

Watch the life-cycle of HIV in colorful detail

Read more at Science of HIV

Ob/Gyn Updated Facebook page

Douching doubles the risk of developing ovarian cancer.

Clinical pearls:

• Douching and not talc was associated with increased risk of ovarian cancer in the sister study. 
• ACOG and NHS both does not support douching and other vaginal washing practices that do more harm than good by eliminating the healthy vaginal flora. 

A National Health study in US linked the age old ritual of douching to subsequent development of ovarian cancer. Women who douche have nearly twice the risk as compared to women who do not practice it.

According to Department of Health and Human services(HHS) one quarter of women between the ages of 15 and 44 practice douching. [1] Studies have linked douching to Bacterial Vaginosis, Pelvic Inflammatory Disease(PID), STIs, including HIV, preterm birth, ectopic pregnancy and vaginal irritation or dryness. [2] A meta-analysis of more than 10,000 HIV-negative women in sub-Saharan Africa found that intravaginal use of drying agents was associated with an increased risk of BV and HIV.[3] 

American College of Obstetricians and Gynecologists (ACOG) and most practitioners strongly advice against douching and ACOG list it as one of the cause of vaginitis, women continue to practice it because of they see it as a cleaning ritual leading to positive health benefits.[4] The NHS also advise against douching and use of scented wipes and vaginal deodorants.

The new National Institute of Environmental Health Sciences study published online on 20 June,2016 in the Epidemiology Journal recruited 50,884 participants of the “Sister study” and followed them to see the link between douching and ovarian cancer. [5]The sister study is conducted by the National Institute of Environmental Health Sciences of the US Department of Health and Human Services. The study enrolled 50,884 women between ages 35–74 whose sister have breast cancer and followed them from 2003 to 2009, across all 50 US states and Puerto Rico.  Due to the shared environment and genetics, this landmark study provides a great chance of identifying risk factors for breast cancer.

All the women were free of breast or ovarian cancer at baseline. The women were asked about douching and use of talc during the previous 12 months before enrolment.

At the end of the follow up period (median 6.6 years) 154 women were diagnosed with ovarian cancer. Women practicing douching has nearly twice the odds of developing malignancy as compared to women who did not douche. The association looked even stronger when only women without the breast cancer gene in the family were analyzed.

Contrary to previous studies, this particular study did not find any association between talc use and ovarian cancer. (HR=0.73) although talc users were twice as likely to practice douching. (OR=2.1)

This is the first study to trying to find a link between douching and ovarian cancer.

Senior author Clarice Weinberg commented: “There are a number of health reasons not to douche, and I can’t think of any reason to do it.”

Vagina cleans itself naturally and douching cause more harm by cleaning away the healthy bacterial flora. The Office on Women's Health at the U.S. Department of Health and Human Services (HHS) says that due to squirting of the douching solution the bacteria are pushed inside uterus, fallopian tube causing PID.

A study conducted by Brown, J et al in 2016 shows women practice intravaginal washing due to personal hygiene and sexuality. It is common to get cleaned up after or before sex. Majority of these women learn the practices from their mothers or electronic or print media. Many women believe that since departmental stores aisles are packed with these products of personal hygiene, they must be safe to use.

But douching products do not fall under FDA regulation, as they are considered cosmetics. Hence, these products do not have to undergo safety tests like drugs.

The pilot study does not prove causation and larger studies are needed in the area. Perhaps women who douche frequently might have other pathologies going on which may be the cause for the behavior. We need to see more studies in the future. 

---

[1]Centers for Disease Control and Prevention. (2013). Key Statistics from the National Survey of Family Growth, 2006–2010.

[2] http://womenshealth.gov/publications/our-publications/fact-sheet/douching.html#

[3] Low N, Chersich MF, Schmidlin K, Egger M, Francis SC, van de Wijgert JH, et al. Intravaginal practices, bacterial vaginosis, and HIV infection in women: individual participant data meta-analysis. PLoS medicine. 2011;8(2):e1000416. 

[4] http://www.acog.org/Patients/FAQs/Vaginitis

[5] http://journals.lww.com/epidem/Abstract/publishahead/Douching,_Talc_Use,_and_Risk_of_Ovarian_Cancer_.98997.aspx