Showing posts with label genetics. Show all posts
Showing posts with label genetics. Show all posts

Thursday, October 2, 2025

creating life

 

so to let men have designer babies they will do risky experiments on babies. Just like IVF, the dirty little secret is that this is chosing life and death for your children and if this puts them at risk, well we will kill them later by abortion.

Tuesday, March 11, 2025

folic acid Autism and fragile x syndrome

see post below about a folic acid type vitamin used to treat young children with autistic symptoms. There was some speculation about this, mainly if folic acid would help the symptoms of our autistic patients with Fragile X syndrome when I worked with the mentally disabled back in the 1980s: 

But alas there was no proof that the vitamin helped the symptoms, although our fragile X/severe autism patients were adults and had mental retardation.

I should note that not all fragile x syndrome patients are autistic or mentally slow so probably they are not diagnosed as such.

...


So I asked grok about the linkage of fragile x syndrome, a  rare cause of autism, and it's relationship to folic acid.

Grok answered:

 It seems like you're asking about the relationship between Fragile X syndrome, autism, and folic acid. Let me break this down and provide some insight based on current understanding.

Fragile X Syndrome and Autism
Fragile X syndrome (FXS) is a genetic condition caused by a mutation in the FMR1 gene on the X chromosome. This mutation leads to a deficiency in the FMRP protein, which is critical for brain development and function. FXS is the most common single-gene cause of autism spectrum disorder (ASD), with about 30-50% of individuals with FXS also meeting the criteria for ASD. Symptoms of FXS can include intellectual disability, developmental delays, anxiety, hyperactivity, and autistic-like behaviors such as social difficulties and repetitive actions.
The link between FXS and autism stems from overlapping neurological impacts, particularly in how the brain processes sensory input and forms connections. However, not all individuals with FXS have autism, and the severity of symptoms varies widely.
Folic Acid Connection
Folic acid, a synthetic form of folate (vitamin B9), is essential for DNA synthesis, repair, and methylation processes, which are critical during fetal development. In the context of Fragile X syndrome, folic acid has been studied for its potential therapeutic effects, though the evidence is mixed.
  • Historical Context: In the 1980s and 1990s, some researchers hypothesized that high doses of folic acid might help alleviate symptoms of FXS by supporting DNA methylation or compensating for metabolic disruptions caused by the FMR1 mutation. Early studies showed modest improvements in behavior or attention in some children with FXS, but these findings were inconsistent and not universally replicated.
  • Current Understanding: More recent research suggests that folic acid does not directly address the core deficits of FXS or its associated autism traits. The FMR1 mutation disrupts protein production rather than folate metabolism, so folic acid supplementation isn’t a cure or a primary treatment. However, folate plays a broader role in neurodevelopment, and deficiencies during pregnancy are linked to increased risks of developmental disorders in general, though not specifically FXS.
Autism and Folic Acid (Broader Context)
For autism unrelated to FXS, studies have explored prenatal folic acid supplementation (typically recommended at 400-800 mcg daily) to reduce ASD risk. Some evidence suggests that adequate folate intake before and during early pregnancy may lower the likelihood of autism in the general population, possibly by supporting neural tube development and gene expression. However, this is not a treatment for existing autism or FXS-related autism.
Summary
  • Fragile X and Autism: Strongly linked, with FXS being a leading genetic cause of ASD.
  • Folic Acid: Not a proven treatment for FXS or its autism symptoms, though it was once explored with limited success. It remains crucial for general prenatal health.
  • Research Status: As of March 12, 2025, no major breakthroughs have established folic acid as a standard therapy for FXS or autism, but studies on nutrition and neurodevelopment continue.
If you’d like, I can search the web or X posts for the latest discussions or studies on this topic—let me know! Alternatively, if you have a more specific question (e.g., about a study, treatment, or personal experience), feel free to clarify.

Wednesday, April 26, 2023

Crispr for genetic problems: SIckle cell disease

 

..................

the problem? It costs 2 million dollars for the treatment.

Much of this cost is because of the expenses of trails to get it approved.

Nature magazine reports that the companies are submitting the therapy to the FDA for approval.

Vertex and CRISPR Therapeutics have submitted their CRISPR-based ex vivo cell therapy exagamglogene autotemcel (exa-cel) for FDA approval, for sickle cell disease (SCD) and beta-thalassemia. A regulatory decision on the gene-editing candidate is expected within 8 to 12 months. The companies have also filed for approval in Europe and the UK.,

>more information here

.

Forget about He Jiankui, the Chinese scientist who created gene-edited babies. Instead, when you think about gene editing you should think of Victoria Gray, the African-American woman who says she’s been cured of her sickle-cell disease symptoms.

Link to the Royal Society conference on this technique.

Youtube has the list to watch their lectures.

Wednesday, November 23, 2016

Just ignore the happiness of the children you don't want

David Warren writes that this film has been banned from French TV because it might upset some people...





At the centre of the controversy is that smile — that distinctly Down syndrome smile, more haunting than the smile on the Mona Lisa. To those who happen to have eyes to see, it is in itself a moral, and a mystical revelation. I have dreamt, towards Christmas, of the Child in the manger: surely Jesus smiled upon his mother like that.

he also wrote:

as I know from first hand (my younger son is Down’s), they are an extraordinary gift, to those parents and to any siblings, or others, who are brought into contact with a love, a fidelity, an emotional attentiveness, a kindliness, a joy, an innocence, an orb of communicable experience and perception that enlarges and deepens us.

-----------------------

related item: Pearl Buck and her retarded daughter.

Her daughter had PKU, which now is screened for and the retardation prevented with a strict diet.

when I first studied in medical school, doctors recommended all such children be institutionalized. Thanks to the Kennedy family, that has changed, and most are now cared for at home or in home style care homes.

but Down's syndrome is a chromosomal abnormality (they have an extra chromosome). Some wonder if genetic manipulation like CRISPR could "cure" or treat their deficiencies or other genetic causes of disabilities.

JohnsHopkins article discussion.

Nature also discusses the possibility and the ethics of genetically manipulating children.

one problem is that manipulating genes in embryos or growing fetuses is essentially "experimenting" on someone who cannot give their consent.

For minor things, like beauty genes or high IQ, this would be immoral, because if the experiment didn't work, the embryos would be discarded or left to die.

But the dirty little secret is that in today's world that stresses perfection, that most children with Down's syndrome are aborted. Changing their genes at time of diagnosis might give more mothers the courage to oppose the pressure on them to abort and give their baby a chance to live.

----------------------

additional note: people with Down's syndrome have higher incidence of some disease like Leukemia and Hypothyroidism, and may develop Alzheimer's disease in middle age. All these things are from immune changes from the chromosome. One reason that in the past (i.e. check out any textbooks from the 1940's) was that they tended to die of infections before they reached puberty. Antibiotics changed this.

there is also an increased chance of certain congenital heart defects. In the 1960's they discussed if these children merited open heart surgery, which at the time was rare and risky. Now few would deny the children such treatment.

I remember one major magazine had an article about a woman whose child had Down's syndrome and heart problems, and was disappointed the child lived. She said she planned to become an activist for euthanizing such children.

Well, she had her wish: Not euthanasia, although Singer and other professional bioethicists would recommend infanticide, and of course, most of the Down's syndrome children are aborted  so no one has to actually confront the face of the child you killed.

But of course, as European progressive nations have proven: Just wait a decade  or two and infanticide and murder of children under the guise of compassion will be promoted.

Sometimes these stories makes one hope that the pro life Muslims will take over the place. .. although as this BBC link suggests, the PC are working on modern "religious" experts to change this.

A similar pro life bias is found among most Africans and AmerIndians, seeing abortion as the same as taking a life, although some tribes do allow early abortion for grave reasons, and of course, taking herbs to bring on one's period is seen as contraception, not abortion.


hence the push for "abortion pills": out of sight, out of mind...

Yet, as the banning of the "SMILE" film suggests, even these mothers remember:

“Can a mother forget the baby at her breast    and have no compassion on the child she has borne?Though she may forget,    I will not forget you!16 See, I have engraved you on the palms of my hands;



But with Down's and genetic abortion, you don' t have that option.

I ran across a comedy about a one night stand with an acquaintance, where the woman got pregnant, and the dude went with her to the doctor's... and they did an ultrasound and saw the beating heart of their tiny old baby...

the dude was speechless and the mother could only cry with mixed emotions.

Nowadays, a blood test will diagnose a lot of Down's syndreme kids early ,so if you want to abort early you can. Of course, the chance of a false positive is there... even if the newest fancy test claims a 0.1% of false positive, you still have lab error, mosaic chromosomes and other problems.

The lab error problems are especially big when testing in populations with a low risk of a problem. LINK

Seattle news article discusses the problem here.

... often after the 16 week ultrasound, where abortion is quite risky and you have to pull out fetal parts to kill the kid. Some delay even longer, hence the use of fetal poison to kill the kid or decompressing the skull of a partially born child (AKA partial birth abortion).

Pearl Buck was told her child would never be normal, so put her into an institution and forget about her. But as the article points out, you never do forget...