Michel Tchan

Physician at Westmead | Adults with rare genetic metabolic diseases

[Michel Tchan @MichelTchan]

Save the date! Looking forward to welcoming all our lysosomal colleagues to Sydney for this year's meeting.
International speaker announcements coming soon!

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

New publication looks at patients under adult IMD services.

Adult teams are looking after 34% more patients than 10y ago and >40% of these patients were diagnosed as adults

https://t.co/kqPHibAAea
@MichelTchan

[Michel Tchan @MichelTchan]

Super-speedy sequencing puts genomic diagnosis in the fast lane https://t.co/8XV1QTuY81

[Michel Tchan @MichelTchan]

Britain's 'unbearable' sewerage problem is a warning against privatisation in Australia https://t.co/CiCHW2FipB

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

See the associated image and read the full report here: https://t.co/xhL9KOqw8R

#SciComm #raredisease #podcastepisode #inheritedmetabolicdisease #InbornErrorsOfMetabolism #Homocystinuria

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

New in #JIMDReports
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

Malak Ali Alghamdi, @naifalmontashir et al
https://t.co/81aak3leAi
#pku #phenylketonuria

[Michel Tchan @MichelTchan]

@mudgey2

[Juan Carlos Q Velez @VelezNephHepato]

1/n adult arrives with sudden on onset of weakness, inability to stand. Complaints of muscle tenderness. CPK 11,000. Cr 2.0 mg/dL(baseline 0.9), Phos 7.6. AKI due to toxic ATN/rhabdo. All clear. But, K 2.1 mmol/L! Not the expected hyperkalemia…

[Michel Tchan @MichelTchan]

#enjoyablethings that morning light when riding

[Michel Tchan @MichelTchan]

#enjoyablethings saw these 2 water dragons regularly high up the Parramatta river back during the summer

[Veera Rajagopal  @doctorveera]

A major adverse effect of statins is myopathy (known since 1980). Now genetics have shed light on this association. Two independent teams have recently discovered that recessive mutations in HMGCR cause a severe form of muscular disease in humans.

A 🧵 for genetics lovers.

[Michel Tchan @MichelTchan]

#ASGCT2023 fantastic talk on Prime Editing by Prof David Liu. Just mind blowing possibilities with this technology

[Michel Tchan @MichelTchan]

Unexpectedly getting to hear Nobel laureate Jennifer Doudna speak on CRISPR at #ASGCT2023 Exciting!!

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review https://t.co/JRriFY2K5H

[Michel Tchan @MichelTchan]

@jodieingles27 @HeartKidsAust @AusGenomics @GarvanInstitute Congratulations Jodie! Referrals coming your way 👌

[A/Prof Jodie Ingles @jodieingles27]

HOORAY! We've received MRFF funding for our Elusive Hearts Study aimed at making genetic diagnoses in families with inherited cardiac diseases + previous negative genetic testing. SUPER excited to partner with @HeartKidsAust @AusGenomics and many awesome co-CIs @GarvanInstitute

[The Journal of Inherited Metabolic Disease @JIMD_Editors]

Another new #VisualAbstract
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells
Paria Asadi, et al

https://t.co/rzcyQL3zIR

#TANGO2 @TANGO2Research #drosophila

[Sharon Plon @splon]

In a packed room #ACMGMtg23 with @HeidiRehm Les Biesecker and Steve Harrison presenting the next version of variant classification work at @TheACMG @ClinGenResource AMP and CAP. Version 4 will be points based. All slides available at https://t.co/tnIztMheej

[Centre for Genetics Education, HETI NSW Health @CGE_HETI]

Would you like to know more about #DNA, #RNA, #genes and #chromosomes? The Centre for Genetics Education has information to help you explain to your patients at https://t.co/5W6SHAfE2q
@NswHeti @NSWHealth @TheRACP

[Michel Tchan @MichelTchan]

•interim mitoHOPE Q&A page: https://t.co/Ya0SLkWpWv
•mitoHOPE email: [email protected]

[Monash Biomedicine Discovery Institute @MonashBDI]

1/ The mitoHOPE Program, led by @MonashBDI's Director Professor @jcarrollmonash, has secured $15M in @AusGov MRFF funding to roll out an Australian-first mitochondrial donation clinical trial. #mito Read more https://t.co/389dCWyWyi

[Medlife Crisis (DEFUNCT) @MedCrisis]

A few years ago, a friend sent me what I would later learn was a typically bizarre tweet by @njohncamm, asking if I knew who he was. No idea, but something bothered me – he almost shared a name with a very famous cardiologist, Professor John Camm

Coincidence?

No...much stranger