Discover and read the best of Twitter Threads about #raredisease
Most recents (24)
Just doing some digging. #Pain is extremely nuanced. And the approach should also. W my kids #health & #pain there has been continued lack of knowledge, assumptions, & unwillingness to understand.
➡️#Anatomy of those that had #TPAIT & lack of understanding
by many docs 1
➡️#Anatomy of those that had #TPAIT & lack of understanding
by many docs 1
how this can impact #pain
➡️ Not identify or understanding impact of #MalabsorptionSyndrome
➡️Assumption that removal of #pancreas should immediately ‘solve’ issue of #ChronicPain
➡️ #GastricEmptying issues
➡️ Age of my kids (too young to have #pain)
➡️ Lack of 2
➡️ Not identify or understanding impact of #MalabsorptionSyndrome
➡️Assumption that removal of #pancreas should immediately ‘solve’ issue of #ChronicPain
➡️ #GastricEmptying issues
➡️ Age of my kids (too young to have #pain)
➡️ Lack of 2
understanding & identification of #MedicalTrauma
➡️T3c #Diabetes
➡️ Impact of #NASH on #pain & options for #care
There are numerous factors that are critical in #Treating an #ChronicPain in #Individuals. They list of few listed above that are factors w my kids, have often 3
➡️T3c #Diabetes
➡️ Impact of #NASH on #pain & options for #care
There are numerous factors that are critical in #Treating an #ChronicPain in #Individuals. They list of few listed above that are factors w my kids, have often 3
#Apologies can be steps towards assisting in #healing #medical #trauma. When my daughter was in @SanfordHealth for 2 months, virtually #secluded bc of accusations by #hospital administration that she causes her diabetic crisis a #hospitalist & #diabetic counselor accused 1
her of ‘stashing’ #Insulin in room. All visitors searched. No items in room unless searched - camera in room 24/7 YET she is accused of injecting #Insulin. My daughter again attempted to educate on post #TPAIT. After additional days, the #Diabetic #Counselor came back & 2
#apologized acknowledging how hard it was to control her #diabetes. It’s hard control when she is at #Baseline but if she is sick nightmare. That #apology meant the world 🌎 to my daughter. She continued to work w this #counselor throughout stay & after. YET #PatientRelations 3 
🧵1) of 9 #DisabilityTwitter #DisabilityRights #Disability #chronicillness #ChronicPain #RareDisease Is our country 80+ yrs later treating our most vulnerable citizens any different? 👇 Just killing us in different ways.
encyclopedia.ushmm.org/content/en/art…
encyclopedia.ushmm.org/content/en/art…
🧵🧵2) "the Nazi ideological conviction which labeled these persons "life unworthy of life".This country makes it near IMPOSSIBLE to get disability after paying into it via taxes for decades once we become ill. Medications unaffordable unless you're rich.Why?
3) Yr after yr & appeals we fill out COUNLESS FORMS. "The limited space & wording on the forms, as well as the instructions in the accompanying cover letter, combined to give the impression that the survey was intended simply to gather statistical data."
Hoy se celebra el Día Mundial de la Hernia Diafragmática Congénita.
Os contamos más sobre nuestra asociación y cómo puedes ayudarnos en este hilo 🧵 👇
Os contamos más sobre nuestra asociación y cómo puedes ayudarnos en este hilo 🧵 👇
La #hdc es un defecto del desarrollo poco frecuente que tiene una incidencia de 1-5/10.000 nacimientos según los datos de Orphanet
El diagnóstico prenatal se ha incrementado y es posible realizar cirugía fetal en muchos casos para aumentar las posibilidades de supervivencia
Am 28.02. ist #RareDiseaseDay
Auch wir sind von einer seltenen Erkrankung betroffen. Unsere Tochter hat RTD, Riboflavin Transporter Mangel.
Hier unsere Geschichte in Kurzfassung #shareyourstory
Auch wir sind von einer seltenen Erkrankung betroffen. Unsere Tochter hat RTD, Riboflavin Transporter Mangel.
Hier unsere Geschichte in Kurzfassung #shareyourstory
Aktuell gibt es weniger als
100 Betroffene weltweit. Es ist wichtig, diese und andere seltene Erkrankungen sichtbar zu machen.
100 Betroffene weltweit. Es ist wichtig, diese und andere seltene Erkrankungen sichtbar zu machen.
Im Juli 2020 habe ich unsere Tochter auf die Welt gebracht. Sie war ein zuckersüßes, gesundes Baby.
Die ersten 7 Monate hat sie sich zeitgerecht entwickelt.
Die ersten 7 Monate hat sie sich zeitgerecht entwickelt.
#MondayMorning 🧵
Too many stakeholders are missing the point of the #InformationBlockingRules and patient's having access to THEIR health information.
For the record:
👉It's not only about access for access sake. It's not just about seeing a result. 👀
Too many stakeholders are missing the point of the #InformationBlockingRules and patient's having access to THEIR health information.
For the record:
👉It's not only about access for access sake. It's not just about seeing a result. 👀
2) 👉It's about access for ACTION's sake. 🚀
3) Ability to strategically operationalize when you have
✅chronic illness
✅life-altering, life-limiting condition
✅#RareDisease
✅#disability
makes all the difference in
👉outcomes
👉#PatientSafety
👉care coordination
👉costs
👉access to community supports
👉access to research
✅chronic illness
✅life-altering, life-limiting condition
✅#RareDisease
✅#disability
makes all the difference in
👉outcomes
👉#PatientSafety
👉care coordination
👉costs
👉access to community supports
👉access to research
#AtoZofdementia
Once amyloid starts to affect brain cells, it is thought to trigger a cascade of events, much like starting a row of falling dominoes. The brain’s immune cells become overactive and start to cause more harm than good. Blood flow can also be affected.
#AlzResearch
Once amyloid starts to affect brain cells, it is thought to trigger a cascade of events, much like starting a row of falling dominoes. The brain’s immune cells become overactive and start to cause more harm than good. Blood flow can also be affected.
#AlzResearch
Your brain is the most complex thing in the universe. Billions of cells working together to control your emotions, memories, movement and speech. we can take steps to keep our brains healthy and reduce our risk of developing dementia later in life
#scicomm
#scicomm
A CT scan involves combining a series of X-rays taken from different angles of the head to produce images of a person’s brain to rule out conditions that cause similar symptoms to dementia and show structure changes that occur in diseases like Alzheimer’s
Apotheken warnen vor Medikamentenengpass. Ein Problem, das #Medizinbrennt weiter verschärfen wird.
Auch wenn das BfArM noch keinen Hinweis auf versorgungsengpässe sieht, da es meistens Alternativen gibt, heißt meistens leider nicht immer. Für einen tagesschau.de/inland/apothek…
Auch wenn das BfArM noch keinen Hinweis auf versorgungsengpässe sieht, da es meistens Alternativen gibt, heißt meistens leider nicht immer. Für einen tagesschau.de/inland/apothek…
Gewissen Prozentsatz an PatientInnen besteht der Engpass also schon jetzt.
Gerade bei PatientInnen von #seltenenErkrankungen, für deren Behandlung manchmal eh ausschließlich "off-label" Medikamente zur Verfügung stehen, haben jetzt schon Pech gehabt.
Ich bin eine dieser
Gerade bei PatientInnen von #seltenenErkrankungen, für deren Behandlung manchmal eh ausschließlich "off-label" Medikamente zur Verfügung stehen, haben jetzt schon Pech gehabt.
Ich bin eine dieser
PatientInnen. Das "Glücksspiel, die notwendigen Medikamente zu bekommen" habe ich bereits letztens verloren.
Diesmal wurde ein KH Aufenthalt mein "Glück im Unglück". Aber was ist beim nächsten mal? Was mache ich nach dem kh,...?
Und ich werde bei weitem nicht die einzige sein.
Diesmal wurde ein KH Aufenthalt mein "Glück im Unglück". Aber was ist beim nächsten mal? Was mache ich nach dem kh,...?
Und ich werde bei weitem nicht die einzige sein.
Pediatric🧬Inborn Error of Immunity⚠️
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers
frontiersin.org/articles/10.33… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology
*⃣ "mutations in RIPK1 are
a 🆕monogenic form of IBD"
Great work by Israeli 🇮🇱, Palestinian 🇵🇸 & US 🇺🇸 researchers
frontiersin.org/articles/10.33… #bioinformatics #datascience #iot #snrtg #openscience #raredisease #gastro #genomics #immunology
Atypical, severe, immuno- phenotype in young patient(s)' ❓
➡️Think🤔 genetic
⬇️
Sequence her/his🧬DNA.
⬇️
Seek 🔎clues in the genome!
➡️Think🤔 genetic
⬇️
Sequence her/his🧬DNA.
⬇️
Seek 🔎clues in the genome!
Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬. Sequence 🧬.
A long battle for survival in a
Sars-Cov-2🦠➕Aspergillosis🦠co-infected
⚠️immunocompromised⚠️patient
(post- stem-cell transplant for leukemia)
ncbi.nlm.nih.gov/pmc/articles/P… #bioinformatics #itrtg #datascience #serverless #openscience #iot #raredisease #immunology #COVIDIsAirborne
Sars-Cov-2🦠➕Aspergillosis🦠co-infected
⚠️immunocompromised⚠️patient
(post- stem-cell transplant for leukemia)
ncbi.nlm.nih.gov/pmc/articles/P… #bioinformatics #itrtg #datascience #serverless #openscience #iot #raredisease #immunology #COVIDIsAirborne
These scenarios are unique to the
⚠️immunocompromised & immunodeficient⚠️.
If you are as such, please do EVERYTHING in your
power to avoid 🦠 Sars-Cov-2 infection:
💉vaxx ➕😷 mask ➕strategic social-📏-distancing.
⚠️immunocompromised & immunodeficient⚠️.
If you are as such, please do EVERYTHING in your
power to avoid 🦠 Sars-Cov-2 infection:
💉vaxx ➕😷 mask ➕strategic social-📏-distancing.
Kudos to teams at:
Osaka Metropolitan University Graduate School of Medicine,
Osaka, 🇯🇵 Japan,
for saving the life of this critically-ill patient. #openscience
Osaka Metropolitan University Graduate School of Medicine,
Osaka, 🇯🇵 Japan,
for saving the life of this critically-ill patient. #openscience
🆕: COVID-19🦠vaxx-💉-response in a cohort of
#immunocompromised children
organ-transplant; stem-cell transplant; rheum, +
- 2 vs 3 dose study
go.nature.com/3hERBn3 #serverless #openscience #scicomm #itrtg #iot #raredisease #datascience #immunology
#immunocompromised children
organ-transplant; stem-cell transplant; rheum, +
- 2 vs 3 dose study
go.nature.com/3hERBn3 #serverless #openscience #scicomm #itrtg #iot #raredisease #datascience #immunology
A majority of the children mounted effective humoral repsonse following 2 doses; increase to near 100% following.
Caveat: these study authors recommend a 3-dose regimen in immunocompromised pediatric patients.
Caveat: these study authors recommend a 3-dose regimen in immunocompromised pediatric patients.
Kids do ⚠️NOT⚠️ have de-facto immunity to 🦠Sars-Cov-2
*⃣ especially immunocompromised kids *⃣
I have read recent case-reports of *fatal* COVID in kids with ▪️Primary Immunodeficiency, ▪️autoimmunity, ▪️rheumatic disease, ▪️cancers, ▪️sickle-cell, ▪️transplants, and more...
*⃣ especially immunocompromised kids *⃣
I have read recent case-reports of *fatal* COVID in kids with ▪️Primary Immunodeficiency, ▪️autoimmunity, ▪️rheumatic disease, ▪️cancers, ▪️sickle-cell, ▪️transplants, and more...
Almost 25 years ago I entered the world 🌍 of #raredisease when 1st my husband was dx w #PRSS1 & then our children.
What I’ve learned is #HealthcareInAmerica is brutal & often #harms those most in need.
The system is broken.
There is no disguising it.
I believe that our 1
What I’ve learned is #HealthcareInAmerica is brutal & often #harms those most in need.
The system is broken.
There is no disguising it.
I believe that our 1
#Healthcare system truly only benefits a small populous; individuals that are mainly #healthy & don’t belong to a marginalized group.
There are monumental system issues that need to be addressed that impact #medicalprofessionals ability to provide necessary 2
There are monumental system issues that need to be addressed that impact #medicalprofessionals ability to provide necessary 2
care. I understand that. I believe that #patients, #caregivers #medicalprofessionals need to work in collaboration to push back on the systemic issues that plague the system. I absolutely can give & find grace in many situations.
What I have no time for is the void of 3/
What I have no time for is the void of 3/
7⃣+ months of Norovirus🦠positivity➕
in this ⚠️Primary Immunodeficiency patient
▪️ Rx-resistant
🧬-> intra-host evolution led to a unique norovirus strain
bit.ly/3RbH53d #bioinformatics #openscience #scicomm #itrtg #raredisease #genomics #immunology
in this ⚠️Primary Immunodeficiency patient
▪️ Rx-resistant
🧬-> intra-host evolution led to a unique norovirus strain
bit.ly/3RbH53d #bioinformatics #openscience #scicomm #itrtg #raredisease #genomics #immunology
Very much in line with what has been seen
in some persistent🦠Sars-Cov-2 infections in immunocompromised hosts.
▪️ viral-clearance failure
▪️ within-host viral evolution/mutations
*the report gives no indication on the fate of the patient.
in some persistent🦠Sars-Cov-2 infections in immunocompromised hosts.
▪️ viral-clearance failure
▪️ within-host viral evolution/mutations
*the report gives no indication on the fate of the patient.
⚠️Immunocompromised patients ⚠️as atypical
"outliers" with almost every🦠infectious pathogen (circa 2017).
❗️ PLEASE doctors - keep a good 👁️eye on those
with compromised immune-systems
jiac-j.com/article/S1341-… #openscience #scicomm #meded
"outliers" with almost every🦠infectious pathogen (circa 2017).
❗️ PLEASE doctors - keep a good 👁️eye on those
with compromised immune-systems
jiac-j.com/article/S1341-… #openscience #scicomm #meded
@AaronGoodman33 Typical cytomorphology is characterized by “blasts” with hand mirror (red arrow, cytoplasm to the side) or pearl necklace (green arrow, small cytoplasmic vacuoles around nucleus) appearance #bpdcn #hemepath #RareDisease #WHOHEME 1/
@AaronGoodman33 Skin and lymph node are most common extramedullary sites of involvement. Skin infiltrate is usually dermal with an appreciable “grenz zone” (uninvolved band b/w dermis and epidermis).. Lymph node typically has diffuse or paracortical involvement #hemepath #WHOHEME #BPDCN
@AaronGoodman33 Bone marrow involvement can be interstitial, nodular and leukemic or a-leukemic. This was an example of a leukemic case @JoeKhouryMD and I published in @BloodJournal #bloodwork bit.ly/3JUBls7 @ASH_hematology #imagebank #WHOHEME #hemepath #bpdcn 3/
🆕Newly-described in an infant:
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Recurrent respiratory🦠infections requiring
mechanical ventilation;
interstitial-🫁-lung disease; pancytopenia;
hepatic failure, brain atrophy, +
ojrd.biomedcentral.com/articles/10.11… #bioinformatics #snrtg #openscience #immunology #raredisease
Exome seq revealed novel compound heterozygous variants in FARSA: P347L & R475Q - in a patient who initially presented neonatal-onset failure to thrive, liver dysfunction, and frequent respiratory infections.
Died at age 28-months of progressive hepatic and respiratory failure.
Died at age 28-months of progressive hepatic and respiratory failure.
Great job in Dx and treating this infant by this team of 🧬disease-detectives from the
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
🇰🇷 'Korean Undiagnosed Disease Program,'
and Seoul National University,
though, sadly, the outcome was fatal.
Brand 🆕 insight into the mechanism of
anti-interferon (IFN)–γ autoantibodies
- implications for 🧬Inborn Errors of Immunity⚠️
and 🦠SarsCov2
#bioinformatics #openscience #scicomm #immunology #genomics #raredisease
anti-interferon (IFN)–γ autoantibodies
- implications for 🧬Inborn Errors of Immunity⚠️
and 🦠SarsCov2
#bioinformatics #openscience #scicomm #immunology #genomics #raredisease
These auto-ABs are linked 🦠to:
1⃣ Primary Immunodeficiencies / "IEIs": susceptibility to certain infections
2⃣ Susceptibility to severe and fatal COVID-19
1⃣ Primary Immunodeficiencies / "IEIs": susceptibility to certain infections
2⃣ Susceptibility to severe and fatal COVID-19
The anti-interferon (IFN)–γ autoantibody
➡️🦠#COVID19 connection
bit.ly/3yGDbaY #bioinformatics #openscience #scicomm
➡️🦠#COVID19 connection
bit.ly/3yGDbaY #bioinformatics #openscience #scicomm
A large🆕study confirms
the⚠️danger of 🦠SarsCov2
to the #immunocompromised
Take precautions to protect yourself
cdc.gov/mmwr/volumes/7… #WomenInSTEM #openscience #itrtg #scicomm #medtwitter #immunology #raredisease
the⚠️danger of 🦠SarsCov2
to the #immunocompromised
Take precautions to protect yourself
cdc.gov/mmwr/volumes/7… #WomenInSTEM #openscience #itrtg #scicomm #medtwitter #immunology #raredisease
▪️ 💉vaxx ➕boost💉
▪️😷 mask on and up
▪️📏 practice strategic social-distancing
If you are immunodeficient or immunocompromised,
(👤LIKE ME) ... these 3⃣ things could well save your life.
▪️😷 mask on and up
▪️📏 practice strategic social-distancing
If you are immunodeficient or immunocompromised,
(👤LIKE ME) ... these 3⃣ things could well save your life.
A news article which accompanies the above research:
"Study highlights need to prioritize
immunocompromised COVID patients"
news-medical.net/news/20220710/… #WomenInSTEM #openscience #scicomm
"Study highlights need to prioritize
immunocompromised COVID patients"
news-medical.net/news/20220710/… #WomenInSTEM #openscience #scicomm
THIS is #HealthCareInAmerica for patients with #ChronicPain due to @congressdotgov allowing @DEAHQ to regulate the Practice of Medicine through Intimidation, Coercion & unwarranted prosecution of Clinicians & Pharmacists.
Patients making arrangements for #VAD in Switzerland 😭
Patients making arrangements for #VAD in Switzerland 😭
We can hope that the @USSupremeCourt ruling today on the #Ruan case which required the government to prove beyond a reasonable doubt that the CSA was Knowingly or Intentionally violated will encourage a return to #PatientCenteredCare
supremecourt.gov/opinions/21pdf…
supremecourt.gov/opinions/21pdf…
However, as long as the @DEAHQ, @CMSGov & Fraud Task Forces continue to target clinicians based on a subjective definition of medical treatment, many may still be hesitant to provide the treatment necessary to restore function & quality of life to patients with #RareDisease,
. 🧬Exciting stuff! 🧬
Hope of a genetic-"fix" for youngsters with a rare blood disorder
newscientist.com/article/232451… #bioinformatics #snrtg #scicomm #openscience #technology #biotech #genomics #raredisease
Hope of a genetic-"fix" for youngsters with a rare blood disorder
newscientist.com/article/232451… #bioinformatics #snrtg #scicomm #openscience #technology #biotech #genomics #raredisease
The clinical trial results which prompted extending CRISPR treatment to kids for
🧬 Sickle-cell and Beta-Thalassemia🩸
bit.ly/3n4MwUO #openscience #scicomm
🧬 Sickle-cell and Beta-Thalassemia🩸
bit.ly/3n4MwUO #openscience #scicomm
🧵(thread 3/3)
...more 🧬✂️DNA-editing hope:
1⃣ Inborn Errors of Immunity : frontiersin.org/articles/10.33… #bioinformatics #biotech #WomenInSTEM #openscience #scicomm
2⃣ 'CF', ... 🫁 ➕: frontiersin.org/articles/10.33… #immunology #genomics #raredisease
...more 🧬✂️DNA-editing hope:
1⃣ Inborn Errors of Immunity : frontiersin.org/articles/10.33… #bioinformatics #biotech #WomenInSTEM #openscience #scicomm
2⃣ 'CF', ... 🫁 ➕: frontiersin.org/articles/10.33… #immunology #genomics #raredisease
One of the most devastating and heart-wrenching of the
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease
~7,000 known rare diseases
A novel mutation🧬identified in
*⃣ "Epidermolysis Bullosa"*⃣
bmcmedgenomics.biomedcentral.com/articles/10.11… #bioinformatics #openscience #100daysofcode #snrtg #genomics #raredisease
Young patients with Epidermolysis Bullosa are known as
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm
"Butterfly Children"
A novel gene therapy has shown dramatic and promising results for some of them:
science.org/content/articl… #openscience #biotech #scicomm
Epidemolysis Bullosa: frequently referred to as
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
'The worst disease you've never heard of'
chron.com/life/health/ar… #openscience #raredisease #scicomm
⚠️Potentially dangerous
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease
new 🦠#COVID19 variants🧬
▪️The pandemic won't end until we prevent this phenomenon
❗️Get💉 vaxxed to shield & protect the immunocompromised
ijidonline.com/article/S1201-… #bioinformatics #WomenInSTEM #openscience #snrtg #immunology #genomics #raredisease
. "NOBODY is safe from the virus until
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
we are ALL safe from the virus"
~Dr. Tedros Ghebreyesus (WHO Director General)
Viruses🦠do strange things when unchallenged for long periods of times in hosts.
Unfortunately mutating🧬is one of those things.
Unfortunately mutating🧬is one of those things.
🧬"Recessive complete deficiencies of typeI IFN immunity may underlie ∼10% of hospitalizations for COVID-19 🦠pneumonia 🫁 in children"
👥It DID in these 12 youngsters
#bioinformatics #openscience #scicomm #WomenInSTEM #immunology #genomics #raredisease
👥It DID in these 12 youngsters
#bioinformatics #openscience #scicomm #WomenInSTEM #immunology #genomics #raredisease
Great work as always by Prof Jean-Laurent @casanova_lab & Co in elucidating genetic susceptibility to SarsCov2. Direct link to the paper: rupress.org/jem/article/21…
The current paper continues this line of research:
"Inborn errors of type I IFN immunity in patients
with life-threatening COVID-19"
science.org/doi/10.1126/sc… #openscience #scicomm
"Inborn errors of type I IFN immunity in patients
with life-threatening COVID-19"
science.org/doi/10.1126/sc… #openscience #scicomm
“It was quite a surprise for us to find that this gene is a
critical part of our immune system"
_News: utsouthwestern.edu/newsroom/artic… #bioinformatics single cell #openscience #scicomm #snrtg
_Journal: science.org/doi/10.1126/sc… #immunology #genomics #raredisease
critical part of our immune system"
_News: utsouthwestern.edu/newsroom/artic… #bioinformatics single cell #openscience #scicomm #snrtg
_Journal: science.org/doi/10.1126/sc… #immunology #genomics #raredisease
"RNA 🧬exosome is crucial for B cell development,
➡️and defects can lead to severe human disease."
Mutations in the SKIV2L gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism."
➡️and defects can lead to severe human disease."
Mutations in the SKIV2L gene are associated with a severe inherited disorder, trichohepatoenteric syndrome (THES), with multisystem involvement but unknown disease mechanism."
Genotypes, phenotypes,
and faces of "Trichohepatoenteric Syndrome"
- some of the earliest known cases
cell.com/action/showPdf… #openscience #bioinformatics #scicomm
and faces of "Trichohepatoenteric Syndrome"
- some of the earliest known cases
cell.com/action/showPdf… #openscience #bioinformatics #scicomm
Fatal ⚠️Inborn Error of Immunity🧬
"We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene"
jmedicalcasereports.biomedcentral.com/articles/10.11… #bioinformatics #openscience #snrtg #genomics #raredisease #immunology
"We present the first reported case of progressive multifocal leukoencephalopathy due to a mutation in the RAC2 gene"
jmedicalcasereports.biomedcentral.com/articles/10.11… #bioinformatics #openscience #snrtg #genomics #raredisease #immunology
"PML has been reported as a fatal complication in 26 patients with Primary Immunodefiiency due to various gene mutations. Our patient is the first case reported with PML due to mutations in the RAC2 gene."
Progressive Multifocal Leukoencephalopathy (PML):
▪️ rare, oft-times fatal disease resulting in destruction of the brain's white matter
🦠strongly associated with exposure to 'John Cunningham Polyomavirus'"
sciencedirect.com/topics/medicin… #openscience #scicomm
▪️ rare, oft-times fatal disease resulting in destruction of the brain's white matter
🦠strongly associated with exposure to 'John Cunningham Polyomavirus'"
sciencedirect.com/topics/medicin… #openscience #scicomm
