Heidi Junnila

Clinical Development Specialist in the field of rare genetic disorders. I am motivated by complex genetic areas and clinical genetic testing.

[Heidi Junnila @HJunnila]

#UltrarareGeneticDiseases are challenging; there are only a few patients to collect data from (compared to common diseases), also the clinicians might not recognize them. Today we confirmed an ultrarare diagnosis for a patient - what a way to enter the weekend. #geneticknowledge

[Heidi Junnila @HJunnila]

Failure is not when you fall down, but when you refuse to get back up! #oldiebutgoldie #lifelessonsfromsoccer #alwsysgetbackup #kuningasjalkapallo #finallymygirlswanttoplaysoccer… https://t.co/sZqBBugM9G

[Heidi Junnila @HJunnila]

@MLReijonen on ilo työskennellä kanssasi #ultraharvinaiset hyväksi. Kiitos kun jaoit tarinasi! https://t.co/gWfJoWgxZF

[Heidi Junnila @HJunnila]

#RareDiseaseDay2020 #ShowYourRare #IlovesomeoneWithGlut1 #ultraharvinaiset

[Heidi Junnila @HJunnila]

Watching a close one live with an #Ultrarare dx is not about grieving a life that has been lost. It is about celebrating the milestones, embracing the challenges and letting them teach you new things about yourself. A diagnosis is not a curse - rather the path to right treatment.

[Heidi Junnila @HJunnila]

We wanted to honor our mom by doing a fundraiser for cancer, to support cancer research.
Please follow the link if you are inrerested in supporting our cause.
https://t.co/T2pVxbPKZN
Sincerely,
Heidi

[Heidi Junnila @HJunnila]

Today, was one of the toughest days of my life - my moms funeral..Once again, I find myself reframing my life. I know I will cope, I was taught to be strong, but there is a huge void left after losing both of my parents to cancer. (see comments)

[Blueprint Genetics @BpGenetics]

Quest Diagnostics Acquires Blueprint Genetics to Broaden Access to Actionable Insights for Genetic and Rare Diseases. Read the latest news: https://t.co/DaXJ9sqtkZ #genetics #GeneticKnowledge

[Heidi Junnila @HJunnila]

This project has been very interesting to work on 💚

[Blueprint Genetics @BpGenetics]

Coming in early 2020 we will be offering full mitochondrial genome sequencing that can be added to any of our panels for no additional cost! Read more here https://t.co/Y1q4Rlvzzp or stop by booth #936 to learn more! #AES2019

[Heidi Junnila @HJunnila]

#Epilepsyawarenessmonth
https://t.co/beqCUxQkDJ

[Heidi Junnila @HJunnila]

https://t.co/oaTnSmGRze

[Heidi Junnila @HJunnila]

Afternoon well spent listening to @tomakela presenting iCAN. What a great initiative for Finland: we have loads of precisely collected medical records, and now aim to combine these with molecular level cancer research. Kudos!

[Lääketieteen Säätiö @LaaketieteenS]

Suomalaistutkijat ovat kehittäneet rokotteen ykköstyypin diabetesta vastaan. Sairautta esiintyy suomalaislapsilla eniten maailmassa. Rokotteen testaus alkaa aikuisilla ensi vuonna. #diabetes #rokote #tukitutkimukselle #hoitoahuomiselle
https://t.co/6A7H2ELh7x

[Blueprint Genetics @BpGenetics]

Exciting news! Blueprint Genetics and ARCHIMEDlife form a partnership to launch high quality biochemical testing for Rare Diseases in North America. Read more: https://t.co/sGP09rjRSx #genetics #rarediseases

[Eveliina Salminen @eve_salminen]

There is wide variation how labs report genetic testing results:
HGVS name but missing refseq ID used; missing classification, missing references for ClinVar, del/dup identified but no genomic coordinates given. Still improvements and harmonization needed. #genetictesting

[Heidi Junnila @HJunnila]

Proud to work in the team that solves difficult to sequence variants!

[Blueprint Genetics @BpGenetics]

What makes the difference in #genetictesting? @SamuMyllykangas mentions two things that are enabled by having a strong focus in quality: 1) Resolving genetic variations in difficult-to-sequence regions and 2) detecting small deletions and duplications. #BlueprintAcademy

[Heidi Junnila @HJunnila]

Full house at the Mendel Lecture by Craig Venter #ESHG2019

[Heidi Junnila @HJunnila]

Professor Francesco Muntoni convinced the audience at #ESHG2019 that newborn screening would enable early intervention with a much better outcome e.g. in the treatment of Spinal Muscular Atrophy (SMA). #EURONMD #SMA #ERN

[Heidi Junnila @HJunnila]

Is your country missing rare disease experts? Clinicians can turn to the European Reference Networks (ERN). A network of healthcare providers aiming at improving quality and safety. "Let the knowledge travel, Not the patient!" #PatientFirst #GENTURIS #ESHG2019

[Heidi Junnila @HJunnila]

Why should you order genetic testing for Epilepsy?
- The affected gene and the variant could affect what treatment should be chosen for your patient! #personalizedmedicine #geneticknowledge #Blueprintgenetics #ESHG2019