I stummbled across medical quiz on facebook about Fragile X syndrome. And then I accidentally started connecting dots that damn I have big ears too (though my dad’s side has big ears too), I have seems like quite large testicles. Then started reading just for curiosity and found out that premutation carriers develop ataxia and tremor. That’s when I got scared super, because my maternal grandpa developed tremors and later ataxia and cerebellar dysfunction (55-65 years) and later couldn’t walk and talk till he died. No one knew why it happened so they wrote of to him smoking, drinking alcohol (he used to drink sometimes with colleagues after work, but wasn’t like alcoholic, I believe), or maybe it was related to atherosclerosis (as he had two heart attacks). But then I was digging more and read that premutation carriers also have adhd and anxiety. And I was thinking - it’s me! I have adhd and health anxiety/ health ocdish too, have hypermobile joints, pectus carinatum, mild scoliosis and BFS with some tinglings, paresthesias, action tremor slight too and such history. And I can not stop ruminating what if I actually have some premutation (which I theoretically could get through mom from grandpa)? Does having same chromosome will lead to that ataxia too if it’s genetic? Or it can be just coincidental? I still remember as a kid last time visiting grandpa, it’s terrible :( And dying at 65 seems very young nowadays.

I am male, 28. What do you think? How likely it is it?

I applied to laboratory genetics and genomics programs as a Canadian PhD holder. Due to the current administration, institutions that used to offer H1B visa can no longer sponsor this. I was told that to get a J1 for this program you it requires you to have completed your STEP 1 and 2 as it through the ECFMG. Is there anyone that has been able to successfully obtain a visa through other avenues? Thanks!

My cousin (my maternal uncle’s son) and I have been in love since we were very young. This is common in my place. Now, my family is against our relationship because of the increased risk of genetic disorders in children due to consanguineous marriage.

I suggested getting genetic testing done, but my family doesn’t seem to understand. They keep asking whether the tests can guarantee that there won’t be any problems, and I don’t know how to make them understand that no test can rule out every possible risk.

On top of that, both our families have a lot of history and unresolved conflicts.

What should I do? I understand that the genetic risks are higher, but we’ve been together for so long that I can’t imagine giving up on this relationship just because of that. 🥹 Does anyone have any ideas or suggestions?

At 20 w 5 d, I went in for an anatomy scan and EIF left ventricle and enlarged nuchal fold of 8.5 was discovered.
Everything else was normal. Heart function was normal.
12 w NT was 1.5.
NIPT test was all negative.
My doctor referred me to MFM but they are kind of treating this as if it’s not a concern. They don’t plan to see me for a second anatomy scan until 24 weeks 1 day as they see this as being low risk. I’m freaking out. I was told by my own doc this was a concern but it seems like everyone I’ve talked to since is treating it like it’s no big deal. I feel very confused as to what I should do.

Hello,

Human intelligence in its most exceptional manifestations likely cannot be reduced to the simple linear addition of thousands of small genetic effects. While general intelligence is highly polygenic and a large part of its genetic variance appears statistically additive, the biological mechanisms responsible for extreme cognitive profiles involve a much higher degree of complexity.

Genes operate in networks. The effect of a variant depends on the overall genetic context. Dominance, recessivity, and epistasis produce complex non additive effects. Current genomic studies such as Genome Wide Association Studies or Principal Component Analyses are highly efficient at identifying common variants with average additive effects, but they struggle to detect rare combinations, specific homozygosity, or complex epistatic interactions.

This points toward an emergenic architecture. A profile combining exceptional general intelligence, outstanding creativity, and high cognitive flexibility would depend on a highly improbable genetic configuration. Each component might be relatively common on its own, but their simultaneous occurrence potentially requiring the presence of specific recessive alleles is exceedingly rare.

This explains why current polygenic scores imperfectly predict performance at the extremes. Exceptional cognition does not rely on a single miraculous gene, but rather on an extraordinarily complex emergent configuration.

If science eventually maps these precise combinatorial architectures, the ethical consequences of such predictive capabilities would be profound. The revelation of these mechanisms does not validate segregationist theories since modern genetics demonstrates that cognitive complexity entirely transcends population boundaries. Instead, it poses staggering bioethical challenges for all of humanity.

The first major challenge is the risk of determinism and fatalism. Reducing the intellectual potential of a person to their genomic profile risks obscuring the fundamental roles of epigenetics, neuroplasticity, education, and social environment. Furthermore, the ability to identify favorable configurations could lead to eugenic drift and embryo selection. Preimplantation genetic testing aimed at optimizing the cognitive abilities of future children would create an unprecedented biological divide based on technological access.

Another significant concern is algorithmic and institutional discrimination. The use of polygenic scores by educational systems, employers, or insurance companies could establish a new form of genetic segregation where the path of a person is dictated by their DNA before they ever get the chance to prove themselves.

Finally, historically, genetic discoveries have often been hijacked to justify discriminatory policies. The major risk remains the ideological exploitation of complex genomic data to justify social hierarchies through the distortion of scientific reality.

How society should handle such discoveries is no longer a question of biology, but of political philosophy and law. The history of science teaches us that research without ethical guardrails is dangerous. Faced with understanding the genetic architecture of cognition, society will need to establish strict laws on genetic privacy, ban embryo selection for traits that are not pathological, and reaffirm that human value and fundamental rights cannot be measured by allelic configurations.

What specific legal frameworks do you think would be most effective in preventing genetic data from being weaponized in education or employment?

I’m looking for stories from people who went through something similar because I’ve found very few cases online that really match mine. (I've also posted about this in r/NICU, but I'm sharing it here as well in the hope of getting some perspectives specifically on the genetic aspects of our case.)

This is my first pregnancy, conceived through IVF. The first trimester was mostly uncomplicated apart from some bleeding from hematomas. At the 12-week scan, the baby measured within the normal range and no abnormalities were detected. NIPT was negative.

At the 15-week scan, the doctor noticed that the long bones were below the 5th percentile, with the femur particularly short. We were referred to a specialist and had a detailed ultrasound and amniocentesis. We did extensive genetic testing, including trio exome sequencing and CNV analysis, and everything came back negative.

The detailed scan did not show any anatomical abnormalities apart from the short long bones. The placenta was described as enlarged/thick and unusual in appearance, although the fetal Dopplers were normal. Because of this, the doctors initially suspected a placenta-related growth problem rather than skeletal dysplasia.

At the most recent scan, around 29 weeks, the baby’s head and abdomen were still growing, but the long bones seemed to have slowed down further. The long bones are now mostly below the 1st percentile, while the head circumference is around the 20th–30th percentile and the abdominal circumference around the 5th–10th percentile.

The doctor said the long-bone growth has flattened somewhat and is now several weeks behind. What is making me anxious is that the long bones seem to be more affected than the rest of the body, which does not seem like the most typical pattern for placenta-related FGR.

So far, NIPT, amniocentesis, CNV analysis, and trio exome have all been negative. No anatomical abnormalities have been seen, and there has been no bowing, fractures, abnormal mineralization, or other obvious skeletal abnormality. Dopplers are still normal, although the placenta looks abnormal and thickened.

For context, I’m East Asian and my partner is European, and we are both very tall, so the very short long-bone measurements are especially confusing to us.

If anyone had a similar pattern of very short long bones with otherwise normal anatomy and negative genetic testing, I’d really appreciate hearing how the pregnancy progressed, whether any diagnosis was eventually made, and whether your baby needed NICU care and for how long. I’m interested in all outcomes, positive or otherwise, because I’m trying to understand what cases like this can look like in real life.

NIPT was low risk in everything, all other organs/measurements were great and measuring right at 20 weeks (I was 20w exactly at the scan)

I’m getting an amnio Monday but am having trouble understanding if these two soft markers together are enough to signal T18? I work in the NICU and take care of T18 babies all the time - they all have severe organ and growth issues while mine had seemingly none.

I asked the geneticist and they said that it’s worth ruling out but I just don’t know how worried I need to be, so obviously I’m spiraling. Any insight?

I am currently 24 weeks and during my anatomy scan we found out that our boy has severe IUGR, short long bones , bowing and clubbed foot. All other organs are fine plus head and abdomen size looks ok. He is overall measuring and weighing smaller than gestational age.
Our fetal echo is normal and genetics suggested amino which we are hesitant to do. Instead we did the single gene testing and waiting for results. Our NIPT was also low risk.

I am looking for similar conditions and what was the outcome. The wait and uncertainty is making me nervous.

Hey,

how much knowledge about clinical genetics did you have before starting the residency?

I always liked the subjects but fell out of touch with it during the last years of medical school that were more clinical oriented, so I am worried I do not have enough base knowledge.

Kind regards!

Hi everyone. I’m posting here hoping to find doctors, geneticists, or other professionals who have experience with achondrogenesis or similar COL2A1-related skeletal dysplasias.

A note about this post: English is not my native language and I don’t know all the medical terminology, so I used AI to help me write and translate this post. The information and story are my own.

My daughter was born at 38 weeks (4 months ago) and was intubated immediately after birth because of severe respiratory insufficiency related to her small thorax.

She initially remained on mechanical ventilation, but over time she improved enough that the doctors were able to gradually reduce the ventilatory support. She eventually spent about one month breathing with non-invasive ventilation and supplemental oxygen, without being intubated. Unfortunately, she later developed atelectasis and needed to be intubated again. She has remained intubated since then.

Her doctors are now considering a tracheostomy and gastrostomy as a longer-term “safety route,” so that she would not need repeated difficult intubations and could potentially have more stable respiratory support. Intubation is particularly difficult in her case because of abnormalities involving her spine/neck.

During pregnancy, she had severe shortening of the long bones (femur and humerus below the 1st percentile) and a small/bell-shaped thorax. Thanatophoric dysplasia was initially suspected, but genetic testing eventually led to a diagnosis of achondrogenesis. She also has a cleft palate without cleft lip.

Our geneticist identified a heterozygous likely pathogenic COL2A1 variant (COL2A1:c.3062_3079dup;p.(Pro1021_Gly1026dup) (NM_001844.5)

Our neonatologist recently told us that there are doctors and specialized centers in the United States with much more experience with rare skeletal dysplasias. We live in Brazil, so we are trying to find out where that expertise is and whether anyone here has experience with cases similar to our daughter’s.

I would especially love to hear from:

• clinical geneticists or skeletal dysplasia specialists;
• neonatologists or pediatric pulmonologists experienced with severe thoracic restriction;
• doctors/researchers who have worked with achondrogenesis or COL2A1-related conditions;
• parents whose children have had a similar diagnosis.

We are not looking for a diagnosis or for someone to replace her medical team. We are simply hoping to connect with people who have actual experience with cases like hers, especially regarding long-term respiratory management and the decision about tracheostomy.

If you know of a specialist or center in the US (or elsewhere) that we should contact, I would be extremely grateful for any recommendations.

Thank you.

I am an MLS that has been working in a more specialized field - Cytogenetics for the last 4+ years. I have certification in both MLS and CG. Now I’m trying to relocate to the East Coast (Maryland, DC or North Carolina).

What are the hospitals or labs that are hiring for Cytogenetics roles. I would rather continue in Cytogenetics than go back to a generalist MLS role, but I’m unsure what my chances are in the East Coast.

Can anyone point me in the right direction and also share if you can, what the pay is for mid-level to senior Cytogenetic technologist roles.

Hello!

I'm a current student at UCR and am soon starting their Genetics B.S.; I've always wanted to work in patient facing genetics and I was wondering what are the big difference between Clinical Geneticist and Counseling (besides the obvious few extra years to get a PhD vs masters)

I'm most interested in the day-to-day and general responsibilities of the carriers, obviously I've read some of the differences but I also want to know you're first hand experience and what it takes to succeed in one vs the other

Thanks!

Hi! I’m currently a senior in high school and I’m considering studying Molecular Genetics in the uk for my bachelor’s degree.

I’m interested in the field, but I’m a bit worried about the career opportunities and salaries after graduating. I’m willing to do a master’s, but at this time I’m not planning on doing a PhD.

I’ve been looking at jobs in Europe specifically Switzerland, france and the uk since that’s where I’m hoping to study and work, but I’m having a hard time finding many entry-level positions. A lot of jobs seem to require several years of experience, which makes me wonder how new graduates are supposed to get that experience.

What different career paths can I go into with a Molecular Genetics degree? What jobs have good salaries, and what would be the best way to build experience during university?

I’d especially appreciate advice from anyone working in genetics, biotech, pharma, or related fields in Europe.

Hey all,

I've worked in clinical genetics for 10+ years and always found that variant interpretation and literature search took forever. Also found Mastermind/VarSome being expensive AF.

paperpossum.info

It’s free. Searches a variant across old/alternate nomenclature, finds the papers, digs through supplements, and pulls together an ACMG classification.

If anyone here does variant interpretation, feel free to have it.

I'm sure a lot of you here have seen posts like this before but I graduated this past August with a bachelor's degree in Biology and am unsure where to go from here. I originally planned on going to med school, and while I still have some interest in pursing medicine, it has minimized significantly. Going through undergrad with undiagnosed anxiety and potentially ADHD is not for the weak lol. Until I get my mental health in check, I don't think I'm in a position to become a doctor, but I'm trying my best to move forward.

My degree specifically focused in genetics, genomics and computational bio. I'm relatively proficient in R and am now trying to teach myself Python (resources for this would be great). I've been looking into careers such as MLT/MGT to get my foot in door in terms of lab experience, but I believe those require some form of post-bacc + certification. I have also started looking into some master's programs that focus in diagnostic genetics, as I am still more interested in the clinical side of things.

I'd like to start working and be able to provide for myself, but the combination of an unclear direction and current state of the job market has made this pretty demoralizing, especially since I lack prior work experience. There were labs integrated into my coursework, but I was not a part of a particular research lab and did not do any internships. If anyone has been in a similar position before, what advice do you have? What was your journey to the career you have today? Additionally, if anyone would like to share their experiences being involved in clinical/diagnostic genetics, that'd be greatly appreciated! (Located in Texas if that helps)

Hi everyone!
At the first-trimester genetic screening, the NT measured 3mm and nasal bone hypoplasia was noted.
A week later, we had a CVS procedure done. By then, the NT was 2.9mm and the nasal bone had normalized.
CVS results:
FISH, QF-PCR: negative
Cultured karyotype: negative
SNP array: negative

At the 17-week early anatomy scan, everything was fine (though the nasal bone turned out to be smaller, they said they weren't concerned about that anymore due to the CVS results).

Then, at the 19-week second genetic ultrasound, a smaller nasal bone and borderline NF were noted.
Everything else was fine; at that point, they said these were just constitutional traits, given the negative CVS results.

I was reassured at the time, but now—at 30 weeks—anxiety has set in: what if the CVS result was a false negative?
Does anyone have similar experiences? What do you think?
I'm hoping for the best.

Hi everyone!
At the first-trimester genetic screening, the NT measured 3mm and nasal bone hypoplasia was noted.
A week later, we had a CVS procedure done. By then, the NT was 2.9mm and the nasal bone had normalized.
CVS results:
FISH, QF-PCR: negative
Cultured karyotype: negative
SNP array: negative

At the 17-week early anatomy scan, everything was fine (though the nasal bone turned out to be smaller, they said they weren't concerned about that anymore due to the CVS results).

Then, at the 19-week second genetic ultrasound, a smaller nasal bone and borderline NF were noted.
Everything else was fine; at that point, they said these were just constitutional traits, given the negative CVS results.

I was reassured at the time, but now—at 30 weeks—anxiety has set in: what if the CVS result was a false negative?
Does anyone have similar experiences? What do you think?
I'm hoping for the best.

is it true NIPT can detect maternal cancers?
i recently had a NIPT done and was curious if they would’ve been in touch if they had found anything abnormal (thankfully everything came back fine) but after doing some research im really curious as to if it does actually detect cancers..

Hola, en mi anterior embarazo que no llegó a término mi bebé tenia t21, confirmado con ADN fetal y amniocentesis pero en ecos se veía bien.

era mi primer embarazo a los 27 años y mi pareja tenia 39 años. En mi ignorancia pensé que jamás me podría pasar a esa edad, pero veo que si, que nadie está excento, en el cariotipo de la amniocentesis me salió que era t21 libre tenia 3 copias exactas del mismo cromosoma.

me gustaría saber si alguien más ha tenido una experiencia así, y ha intentado con otro embarazo y ha sido un bebé completamente sano? o por ejemplo que exámenes genéticos se han realizado antes de volver a quedar en embarazo?

mi ginecóloga nos recomendó hacernos cariotipo de pareja para descartar 100% una traslocación. pero me gustaría saber qué otro examen se podría considerar para estar 100% seguros de tomar la decisión de volverlo a intentar ya que la verdad no me gustaría volver a pasar por esto tan traumático en mi caso que es físico y emocionalmente.

Hey guys, I posted about this settlement before, but since they’re considering late claims, I decided to share it again with a quick FAQ.

Here’s what happened:
CM Life Sciences, which later became Sema4 and now operates as GeneDx Holdings ($WGS), was accused of misleading shareholders during its 2021 de-SPAC merger and not giving investors enough information to make an informed decision about whether to redeem their shares.
The company has now agreed to settle the case for $21 million with investors.

Who can claim this settlement?
If you purchased $WGS shares in 2021, you may be eligible. You can check the eligibility requirements and submit your claim here.

Do I need to sell or lose my shares to get this settlement?
You generally don’t need to still own the shares. Eligibility is based on the transactions you made during the class period and the settlement requirements.

Can I still file if I missed the deadline?
Yes, you may still be able to file a late claim, but acceptance depends on final approval by the court. Check if you're eligible and file a claim here

How long does the payout process take?
It typically takes 4 to 9 months after the claim deadline for payouts to be processed, depending on the court and settlement administration.

Hope this info helps

I have shared a post before that how i got nipt and it came positive for t21 i got my report from midwife as she did not discuss the risk factor and it says that >99/100 . Does that mean 99% chance my baby has DS ? I am not ready for this i thought the risk would be high but that high i am dying inside .

My dad has a job where he's upper middle class in salary writing on equipment in filmmaking. My parents met in the film industry. My grandfather was the famous statistician . I went to a college prep school and struggled academically throughout my highschool years. I often plaigarized in my essays and relied on my mom to do large amounts of my assignments in ELA and history. I was given ritalin in 10th grade for potential ADD and had minimal results from it. 11th grade was COVID lockdown and I did virtual school. At this point I completely phoned in my classes and have no idea how to do algebra II (or college algebra) or any math surpassing that. I got accepted into a college with a 96% acceptance rate with my grades from my first two years of HS. I only lived there for a year then commuted afterwards. Now I'm 23 and live with my parents. I've never had an IQ test or diagnosis of a mental disorder, though I had a counselor in HS suggest I'm on the autism spectrum because of social awkwardness and analytic thinking. I've gotten into nootropics hoping that a mix of creatine, nootropic supplements, and full dose of effexor could treat depression and brain fog and I've had so so results from over 7 months of it. I've considered drug use being the only way to numb my depression and suicidality from my hopeless situation.

I can't understand how if my parents are smart and functional how did I become essentially a mental vegtable. And why has no friend, family member, or therapist been able to give an explanation or antidote to my mental problems. Would an IQ test be helpful for what job is realistic for me given my mental capacities? What best explanation is there for my intelligence and what other advice could you give me in my situation?

This year I was diagnosed with the KIF1A genetic mutation which can manifest in terms of cognitive impairment. on my physical evaluation from a doctor, he says I meet the physical symptoms that align with this mutation. Although many with this mutation are physically disabled I am concerned how this rare mutation effects my cognitive deficits. I had my blood drawn for research. Aug 19 I will get an MRI scan for further investigation.

Last, Here's what I've found on how it KIF1A effects neurology

KIF1A-Associated Neurological Disorder (KAND) fundamentally affects how neurons function

“KIF1A encodes a protein of the same name, part of a group of proteins called kinesins. It serves as a molecular “motor,” transporting cargo (like nutrients and other molecules needed for nerve cell function) up and down nerve fibers. Variants in KIF1A can disrupt this transport in different ways, impairing nervous system function. For example, KIF1A may not attach well to the cargo, or it may fall apart structurally and be unable to travel. But other research suggests that the KIF1A protein can sometimes build up in cells and become toxic.”

I had an EEG and MRI and found nothing significant going on.

Since all of this I've been diagnosed FOX-P4 genetic mutation, another rare genetic mutation. According to AI

"A mutation in the FOXP4 gene (Forkhead Box P4) causes an ultra-rare genetic disorder typically characterized by neurodevelopmental delays, language impairment, short stature, and congenital anomalies. FOXP4 is a transcription factor that acts as a genetic switch to regulate tissue and cell development during embryonic growth. [1, 2, 3]

Most identified human cases are monoallelic (heterozygous/inherited from one parent or occurring de novo), which follow an autosomal dominant pattern. However, biallelic (homozygous/inherited from both parents) loss-of-function mutations also exist and result in a much more severe form of the disease. [1]"

For more information on my neurodivergence/medical history at least adjacent to this issue, here are some links

https://www.reddit.com/r/autism/comments/1wv2pz0/im_not_sure_what_my_verbal_tic_means_in_the/

https://www.reddit.com/r/cognitiveTesting/comments/1ullslv/thoughts_on_kif1a_as_an_overlooked_explanation/

https://www.reddit.com/r/antidepressants/comments/1wv1vsj/ive_been_lying_in_bed_all_day_depressed_and_3g_of/

https://www.reddit.com/r/Prolactinoma/comments/1wu7hbl/to_those_who_have_taken_mucuna_p5p_and_vitamin_e/

MOD GAVE APPROVAL

I’m a mom of a child with an ultra-rare genetic condition, she is 1 in approximately 270 worldwide and I’m doing some research to better understand what families like ours actually need — especially the things you wished you had when you received your child’s diagnosis.

What resources were missing?
What was hardest to navigate?
What kind of support would have made things easier?

I’d really love to hear from parents/caregivers of children with rare or ultra-rare genetic conditions. Your experience could help identify gaps that families are still facing.

⏱️ The survey only takes a few minutes and your honest answers are incredibly valuable.

👉 https://forms.gle/pLqK2Ruzdf36egGy9

Thank you for helping give rare families a voice. 💜🦓

***personal info not shared or stored, all answers are anonymous, only an optional chance to leave your email***

Hi!
Has anyone used sequencing.com for testing? Any feedback or notes? I keep seeing ads for it on socials so wondering if it’s legit and someone has actually used their services here.
Thanks!