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Genomics AM / Pregnancy PM Monday 8th October 2020 - Shared screen with speaker view
Julia Kenkre
02:03:39
Please type any questions for Prof Hannan in the chat
Mohsin Sohail Siddiqui
02:03:51
Excellent talk, probably understood genetic parathyroid disorders for the first time!1. Can FHH patients with Vit D deficiency or hypomagnesemia have falsely normal serum adjusted calcium?2. Often endocrine teaching and handbooks describe autoimmune or idiopathic as the common causes of primary hypoparathyroidism (aside from post thyroidectomy). Do you recommend genetic testing for all cases of primary hypoparathyroidism in the absence of hx of thyroidectomy?
benjones
02:04:30
I would be interested to know whether the AP2S1 LoF mtuations in FHH have other GPCR phenotypes, given it’s critical role in endocytosis / trafficking etc?And, in your experience of assessing the functional impact of LoF CaSR mutations in vitro, how does one factor in that most affected people will be heterozygous?
Azza Osman
02:04:43
Excellent talk. Thank you.
Vinit Shah
02:07:14
Same question as Dr Siddiqui- Idiopathic causes of hypoparathyroidism- Is Auto Dominant hypoparathyroidism or other causes worth testing for?
Mohsin Sohail Siddiqui
02:10:21
Do you offer Thiazide to ADH patients when Calcium replacement is warranted?
Mohsin Sohail Siddiqui
02:12:30
Thank you
Julia Kenkre
02:42:12
Again, any questions for Dr Ellen Thomas, do add to chat.
Ellen Thomas
02:43:41
ellen.thomas@genomicsengland.co.uk
Abdul Lakhdar
02:44:49
When we request a test for suspected FH and LDL deletion is negative , what don’t you automatically test PCSK9 mutation?
Julia Kenkre
02:52:36
Menti.com code is 43 13 40 5
Abdul Lakhdar
02:56:14
I had a discussion with Professor Hattersley of Exeter with regards to Ketosis prone diabetes-He thinks it has nothing to do with T2DM but its genetics have yet to be discovered! What is your view?
Oluwaseun Anyiam
03:15:08
Are pregnant women with GCK MODY at risk of the same complications from hyperglycaemia as patients with gestational diabetes?
Jessica Johnson
03:46:53
advantage - won't require an inpatient bed (eg liver/lung biopsy)
Heloise Tarrant
03:47:17
Non invasive, rapid, easy to store samples
benjones
03:47:20
Good for longitudinal follow up
Jessica Johnson
03:47:31
disadvantage ??cost
Julia Kenkre
03:49:42
Disadv: sensitivity and lack (in lots of cases) of clinical correlation
Julia Kenkre
04:04:26
Any questions do add to chat
Jessica Johnson
04:07:32
when will the EGFR test be in the UK?
Julia Kenkre
04:08:01
It is available now
Marina Minic-Novcic
04:09:22
How often is liquid biopsy used in early detection of prostate cancer, is it becoming more widely used?
Julia Kenkre
04:15:06
Thanks all
Clara Cieza-Borrella
04:15:13
Thank you everyone!
benjones
04:15:16
Thanks Julia and all speakers
Marina Minic-Novcic
04:15:27
Thank you for great selection of topics and speakers!
Heloise Tarrant
04:15:43
Thank you for an excellent session