#reproductive genetics

[drforambhuta]

Advances in IVF treatment include the following:

1. Enhanced Embryo Selection:

Traditionally, embryo selection in IVF relied on subjective morphological assessments, but the introduction of time-lapse imaging systems has transformed this process. These systems allow continuous monitoring of embryo development, providing high-resolution images to track milestones and assess viability more accurately. Advanced algorithms analyze vast datasets, identifying subtle features linked to optimal implantation potential. This technology combines quantitative metrics with visual assessments, enhancing selection accuracy and improving IVF success rates.

2. Preimplantation Genetic Testing (PGT):

PGT offers insights into embryo genetic health before implantation, comprising preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). Recent advancements in techniques like next-generation sequencing and single-cell analysis have improved accuracy. PGT integration with time-lapse imaging allows comprehensive assessments of genetic and morphological parameters, optimizing embryo selection strategies and reducing genetic disorder risks.

3. Mitochondrial Replacement Therapy (MRT):

MRT addresses mitochondrial diseases by replacing faulty mitochondria with healthy donor mitochondria in oocytes or embryos. This technique not only prevents disease transmission but also enhances embryo quality and IVF success rates. Despite ethical concerns, MRT represents a significant advancement in assisted reproduction, offering hope to families affected by mitochondrial disorders.

3. Innovations in Ovarian Stimulation:

Recent innovations aim to personalize ovarian stimulation protocols, minimizing side effects and tailoring interventions to individual needs. Personalized protocols consider factors like age, ovarian reserve, and hormonal profile, optimizing outcomes and reducing risks. Gonadotropin-releasing hormone (GnRH) antagonists and agonists revolutionize stimulation protocols, improving efficiency and patient safety by preventing ovarian hyperstimulation syndrome.

4. Artificial Intelligence in IVF:

AI utilizes advanced algorithms to analyze diverse patient parameters and optimize clinical decision-making in IVF. Machine learning algorithms support embryo selection by identifying morphological features associated with implantation potential. Continuous learning and adaptation enable AI to enhance success rates, allocate resources efficiently, and identify patients at heightened risk, facilitating proactive interventions and personalized care strategies.

5. Evolution of Reproductive Genetics:

Advancements in genetic testing technologies revolutionize the diagnosis of chromosomal abnormalities and genetic disorders in gametes and embryos. Next-generation sequencing enables comprehensive genome analysis, detecting rare variants and genetic predispositions affecting fertility and reproductive health. Integration of genetic counseling services facilitates informed decision-making, optimizing IVF treatment strategies and improving pregnancy outcomes.

You can contact Dr Firuza Parikh working at HN Reliance Hospital Mumbai, who is India's best fertility specialist, to undergo a successful IVF procedure using advanced techniques.

[localcryptidmn]

THIS. WE SHALL USE THEIR OWN LOGIC AGAINST THEM!

Here's the wikipedia article: Sex-determining region Y protein - Wikipedia

[reasonsforhope]

"Scientists have created mice with two biological fathers by generating eggs from male cells, a development that opens up radical new possibilities for reproduction.

The advance could ultimately pave the way for treatments for severe forms of infertility, as well as raising the tantalising prospect of same-sex couples being able to have a biological child together in the future.

“This is the first case of making robust mammal oocytes [a.k.a. egg cells] from male cells,” said Katsuhiko Hayashi, who led the work at Kyushu University in Japan and is internationally renowned as a pioneer in the field of lab-grown eggs and sperm.

Hayashi, who presented the development at the Third International Summit on Human Genome Editing at the Francis Crick Institute in London on Wednesday, predicts that it will be technically possible to create a viable human egg from a male skin cell within a decade. Others suggested this timeline was optimistic given that scientists are yet to create viable lab-grown human eggs from female cells.

Previously scientists have created mice that technically had two biological fathers through a chain of elaborate steps, including genetic engineering. However, this is the first time viable eggs have been cultivated from male cells and marks a significant advance. Hayashi’s team is now attempting to replicate this achievement with human cells, although there would be significant hurdles for the use of lab-grown eggs for clinical purposes, including establishing their safety.

“Purely in terms of technology, it will be possible [in humans] even in 10 years,” he said, adding that he personally would be in favour of the technology being used clinically to allow two men to have a baby if it were shown to be safe.

“I don’t know whether they’ll be available for reproduction,” he said. “That is not a question just for the scientific programme, but also for [society].”

The technique could also be applied to treat severe forms of infertility, including women with Turner’s syndrome, in whom one copy of the X chromosome is missing or partly missing, and Hayashi said this application was the primary motivation for the research.

Others suggested that it could prove challenging to translate the technique to human cells. Human cells require much longer periods of cultivation to produce a mature egg, which can increase the risk of cells acquiring unwanted genetic changes.

Prof George Daley, the dean of Harvard Medical School, described the work as “fascinating”, but added that other research had indicated that creating lab-grown gametes from human cells was more challenging than for mouse cells. “We still don’t understand enough of the unique biology of human gametogenesis to reproduce Hayashi’s provocative work in mice,” he said.

Study Methods

The study, which has been submitted for publication in a leading journal, relied on a sequence of intricate steps to transform a skin cell, carrying the male XY chromosome combination, into an egg, with the female XX version.

Male skin cells were reprogrammed into a stem cell-like state to create so-called induced pluripotent stem (iPS) cells. The Y-chromosome of these cells was then deleted and replaced by an X chromosome “borrowed” from another cell to produce iPS cells with two identical X chromosomes.

“The trick of this, the biggest trick, is the duplication of the X chromosome,” said Hayashi. “We really tried to establish a system to duplicate the X chromosome.”

Finally, the cells were cultivated in an ovary organoid, a culture system designed to replicate the conditions inside a mouse ovary. When the eggs were fertilised with normal sperm, the scientists obtained about 600 embryos, which were implanted into surrogate mice, resulting in the birth of seven mouse pups. The efficiency of about 1% was lower [although not THAT much lower] than the efficiency achieved with normal female-derived eggs, where about 5% of embryos went on to produce a live birth.

The baby mice appeared healthy, had a normal lifespan, and went on to have offspring as adults. “They look OK, they look to be growing normally, they become fathers,” said Hayashi.

Going Further

He and colleagues are now attempting to replicate the creation of lab-grown eggs using human cells.

Prof Amander Clark, who works on lab-grown gametes at the University of California Los Angeles, said that translating the work into human cells would be a “huge leap”, because scientists are yet to create lab-grown human eggs from female cells.

Scientists have created the precursors of human eggs, but until now the cells have stopped developing before the point of meiosis, a critical step of cell division that is required in the development of mature eggs and sperm. “We’re poised at this bottleneck at the moment,” she said. “The next steps are an engineering challenge. But getting through that could be 10 years or 20 years.”

-via The Guardian (US), 3/8/23

[sol-consort]

I love seeing you geek out over the Jaal romance lmao

HOW IS HE SO FINE

i wanna chew on him like a cat on plastic

[iamf0rtis]

alright this one might get me in some online fights here on tumblr but i feel like *someones* gotta bring it up

aborting a fetus with a genetic or mental disorder because you cannot take care of them is not eugenics.

bringing a fetus into the world when you can not care for their disorders is cruel.

if you can not care for a kid, you shouldn't have it. yes, that includes kids with autism, kids with down syndrome, kids with cystic fibrosis, etc. its not eugenics, its wanting the best for yourself and any kid you bring into the world.

its not bad to abort a fetus you can not care for. its bad when you know you cant take care of that child but have it anyway.

genetic testing doesnt necessarily promote eugenics, it allows parents to make educated choices about their family and the children they are bringing into the world. frankly, i think it makes the lives of disabled people better.

if you could make sure your child doesnt suffer from a chronic disability, wouldnt you do it? i dont think thats a bad thing.

[mindblowingscience]

Mice lacking a certain gene are unable to produce offspring because their sperm lack the connection between the tail and the head. A new thesis from the University of Gothenburg indicates a probable cause of male infertility. Researchers at the University of Gothenburg have identified a new protein, which they have dubbed "MC2," that plays a crucial part in the formation of swimmable sperm in mice. This protein is needed to create a functional connection between the head and the tail of the sperm.

Continue Reading.

[kbb306]

Welcome to another episode of Crazed Crossovers. I have mentioned this before, but who cares?

This is Wilbur Robinson.

He's impulsive, charming, superficially confident and has a complicated (time travel-y) relationship with his dad.

This is Alberto Scorfano.

He's impulsive, charming, superficially confident, and has a complicated (non-existent) relationship with his dad.

See the resemblance? Furthermore, Luca is set in Italy, and Wilbur’s mother, Franny

Is explicitly Italian-American (her maiden name is Framagucci). Luca is set in the 50s, allowing plenty of time for Alberto's descendants to marry into the Framagucci family, emigrate to America, and eventually produce Franny 

Who goes on to marry Cornelius Robinson

(Whoops)

And give birth to Wilbur.

Obviously, the sea monster genes disappeared over generations of land-based life. But keeping that story alive could explain the whole "toast" gag they do.

(Thank you, thank you! Hold your applause!)

[dontmeantobepoliticalbut]

The June 24, 2022 Dobbs v. Jackson landmark decision by the United States Supreme Court held that the Constitution of the United States does not confer the right to abortion. This decision returned to individual states the power to regulate any aspect of abortion not protected by federal law. Since this ruling, multiple states have limited or completely banned abortion care for people who are pregnant. In at least nine states, abortion is blocked with no exceptions for rape or incest.

Multiple states have banned abortion after 18, 15, or even 6 weeks gestation. These time restrictions make it impossible for patients to use medical information from ultrasounds and/or genetic testing, available later in pregnancy, to determine if a fetus has an anomaly and/or a life-threatening or lethal condition.

These abortion restrictions and laws permitting any citizen to sue anyone “aiding or abetting” an illegal abortion for up to $10,000 has created uncertainty and fear among health care providers trying to provide medical care to pregnant patients experiencing miscarriage, tubal or ectopic pregnancy (when the embryo implants in the fallopian tube, where it cannot become a full term pregnancy; can be lethal to the mother if not treated promptly and correctly), or those who need prenatal genetic counseling. Clinicians are unclear where the lines stand between providing care and committing a felony that could equal jail time, and this means that pregnant people aren’t getting the appropriate and timely care they need, even outside of a healthy, viable pregnancy.

But did you know that the Dobbs decision has also prevented non-pregnant women from receiving the medications they need to treat lupus, rheumatoid arthritis, and other conditions treated with medications like methotrexate?

Chris Stallman, MLS, MS, is a certified genetic counselor, an expert in medication impact during pregnancy, and a Clinical Instructor of Pharmacy Practice-Science at the University of Arizona R. Ken Coit College of Pharmacy. “Methotrexate is a medication used to treat many conditions, including lupus, rheumatoid arthritis, Crohn’s disease, and other autoimmune diseases. If a person who is pregnant uses methotrexate, it could increase the chance of miscarriage, birth defects, and other issues in pregnancy or after birth.”

For this reason, girls and women of child-bearing age who are taking methotrexate as treatment for their autoimmune or other diseases are not able to take methotrexate – even if they are not pregnant.

This critical problem is not hypothetical – treatment with methotrexate has already been withheld from female, non-pregnant patients with serious medical conditions in multiple states.

A 48-year-old woman in Tellico Plains, TN received an automated call from her CVS Pharmacy in July 2022 indicating that her prescription for methotrexate wouldn’t be refilled. This patient, who has inflammatory arthritis and a neuromuscular disease called myasthenia gravis, stated that methotrexate allowed her to resume simple, yet previously painful tasks like putting on her pants and rolling over in bed.

In June 2022, not 24-hours after the Dobbs ruling, a patient in Maryland who has Crohn’s disease received a call from her insurance company indicating that methotrexate, used to treat the chronic inflammation and pain associated with this condition, would no longer be available to her.

Within a week of the Dobbs ruling, a woman in Virginia who has Lupus received a letter from her doctor’s office indicating that it was pausing all prescriptions and refills of methotrexate because of the Supreme Court decision on abortion. Before taking methotrexate she experienced flares of Lupus so severe that she had trouble walking and needed to use a shower chair to wash.

Another woman from Missouri had been taking methotrexate to treat rheumatoid arthritis. When she went to the pharmacy to pick up her refill she learned from the pharmacist that they needed a specific direction from her doctor that the medication would not be used for an abortion. The pharmacy, Walgreens, confirmed with this customer that they do not require the same procedure from their male clients.

A 14-year old girl in Arizona was denied a refill of methotrexate to treat her debilitating rheumatoid arthritis and osteoporosis. Her angry physician tweeted that her patient was denied this critical medication because she was female. The withholding of life-saving or -altering medications from the women who need them has forced some of them to consider surgical sterilization.

Could denying women of childbearing age (who may or may not be sexually active, fertile, heterosexual, or pregnant) methotrexate be just the beginning of problems for women who need prescription or over-the-counter medications? Stallman says, “This certainly could lead to more medication denials – and not just for people who can get pregnant. If my husband or children need medication that could increase risks to a pregnancy, would they be denied the medication simply because they live with a person who could get pregnant? Will health care providers have to stop handling or dispensing such medications if they or their partner could get pregnant? And before saying ‘that will never happen’, remember that is what people said about the overturning of Dobbs. We don’t know how far this will go.”

Let’s take this thought experiment a step further. Is it possible that young girls will have to present a letter from their pediatricians indicating whether they’ve started having periods before they can receive the medications they need? Will adult women have to present written proof of tubal ligation, menopause, or infertility from their physicians before filling their life-saving medications? Will other medications that can affect the health of a fetus, even the highly regulated acne medication Accutane, require such additional proof? Could pharmacies use the data they have on prior purchases, like tampons and lubricant, to determine if a woman may be of child-bearing age and/or is sexually active?

The Dobbs decision is just the beginning of our government interfering with womens’ bodies, their personal choices, and their medical care. This decision is already impacting health care outside of pregnancy and could force women and their family members to disclose personal information about their fertility, sexuality, sexual and medical history with pharmacists, medical systems, the government, and the databases that all of them use. Our federal government must act swiftly to ensure that this decision doesn’t lead to further government overreach, discrimination, interference in proper medical care, and tragedy.

[quotesfrommyreading]

In 2013, neurobiologist Kristin Tessmar-Raible and her colleagues published some of the most compelling evidence of a molecular moon clock in an ocean creature. They studied the marine bristle worm Platynereis dumerilii, which looks like an amber centipede with tiny feathered oars running the length of its body. In the wild, the bristle worm lives on algae and rocks, spinning silk tubes for shelter. While reading studies from the 1950s and ’60s, Tessmar-Raible learned that some wild bristle worm populations achieve maximal sexual maturity just after the new moon, swimming to the ocean surface and twirling in circles in a kind of whirling dervish nuptial dance. The studies suggested that changing levels of moonlight orchestrated this mating ritual. “At first I thought this was really crazy in terms of biology,” says Tessmar-Raible, who notes that she grew up far from the ocean, “but then I started talking to colleagues in marine biology and realized that this might not be so uncommon.”

To learn more, Tessmar-Raible and her colleagues kept bristle worms in plastic boxes, feeding them spinach and fish food, and simulating typical and aberrant moon cycles with an array of standard light bulbs and LEDs. Worms raised in perpetual light or in entirely moonless day-night cycles never displayed reproductive rhythms. But worms reared with periodic nocturnal illumination synced their spawning rituals to the phases of their artificial moon. As suggested by earlier studies, Tessmar-Raible found light-sensitive neurons in the worms’ forebrains. And genetic sequencing revealed that the bristle worm has its own versions of essential molecular clock genes found in terrestrial insects and vertebrates. Tessmar-Raible’s conclusion is that the worms have a robust lunar clock analogous to the more familiar sun-synced circadian clock. “This is an endogenous oscillator,” she says. “Something in the body preserves the memory of those nocturnal illuminations.”

In similar studies, Oren Levy and his colleagues collected pieces of living corals from Heron Island reef and housed them in large outdoor aquaria, some of which were exposed to ambient sunshine and moonlight, some shaded at night to block all moonlight, and some subjected to dim artificial light from sunset to midnight and then kept in the dark until sunrise. Each day for eight days before the estimated night of mass spawning, the researchers collected bits of corals from the different aquaria and analyzed the activity of their genes. The corals in natural conditions spawned as predicted and expressed many genes only during or just before releasing their gametes. Corals subjected to artificial light and deprived of moonlight displayed anomalous gene expression and failed to release their gametes.

 —   The Lunar Sea

[legokingfisher]

Do those Garmadon and Wu books ever mention their mother? Because if not then I’m just going to stick with my headcanon that the first spinjitsu master reproduced asexually

[bitstitchbitch]

It’s kinda funny-not-funny when I tell the doctors my grandma had a stroke during my medical history and they’re all like “ah yes, good to know” but not really caring until I add “she was 26” and then their faces go “oh shit” and they start asking detailed questions about what caused it and shit 😅

[melodyofthevoid]

How are mer born (or created is an option)? And what happens if two different species of mer have kids together? Is it like, a genetic lottery to see if a kid takes after their mom or dad's species?

Yes

[reasonsforhope]

A new drug was able to quickly and temporarily immobilize sperm in male mice, according to a study published Tuesday in Nature Communications, a discovery researchers described as a “game-changer” that could pave the way for a male contraceptive pill and could ultimately allow men to share equal responsibility with women for birth control.

A single oral dose of the drug immobilized mice sperm for up to two and a half hours and was 100% effective in the first two hours, the researchers said.

Treated mice showed normal mating behavior but none impregnated a mate despite 52 different attempts to do so, the researchers said, compared to almost a third of mice impregnating mates after being treated with an inactive control substance.

The drug is fast-acting—Melanie Balbach, one of the study’s authors and a researcher at Weill Cornell Medicine, said it worked within 30 to 60 minutes—and works by inhibiting an enzyme needed for sperm to function.

It is also temporary, with efficacy dropping to 91% at three hours and fertility returning to normal by the next day.

These properties set the drug apart from many of the other efforts to develop a male contraceptive, the researchers said, which often rely on hormones to control fertility and can take weeks or months to be effective or to wear off.

The study demonstrates proof-of-concept for “safe, non-hormonal, on-demand, male contraceptives,” the researchers said, and while it may work in theory any product will be many years and a great deal of testing in the future.

-via Forbes, 2/14/23

And there is ANOTHER breakthrough with a different method from just two months later:

A ground-breaking contraceptive pill for men could be just around the corner after a major genetic breakthrough. Scientists at Washington State University have identified a gene which temporarily renders sperm infertile after they remove it.

The research team discovered a protein encoded by this gene, found solely in the testicular tissue of most mammals, which reduced sperm counts and deformed remaining sperm to make them incapable of fertilizing an egg when altered. The potentially historic breakthrough contraceptive pill would also have no hormonal side-effects and could be additionally help control animal overpopulation — replacing castration.

Crucially, the destabilization of the infertility protein is not permanent, meaning sperm will recover once the person or animal stops taking the treatment. Scientists have hailed the discovery as potentially important for the future of the human race. In their study, researchers identified the expression of a gene called Arrdc5 in the testicular tissue of mice, pigs, cattle, and humans...

However, disrupting the functions of this protein will not require any hormonal interference, a key hurdle considering the multiple roles testosterone plays beyond sperm production in men, including the building of bone mass and muscle strength as well as red blood cell production. The team also says that designing a drug which only targets this protein would further make it easily reversible as a contraceptive.

-via Study Finds, 4/19/23

Note: Please excuse the cissexist language from the sources here, which I have not edited out for accuracy, etc. The Forbes article does respectfully discuss trans and nonbinary people and their birth control needs further down.

[just-a-blog-for-polls]

As a hint I'll add that a common mistake here is to only think about the human species!

[transingthoseformers]

Aaaaand that would be our catch

There's the murder