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b"ONCE UPON A GENE - EPISODE 181\\nHelping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of Weeks with Probably Genetic CEO Lukas Lange\\n\\nLukas Lange is the CEO and Founder of Probably Genetic. They seek to give genetic testing to families who are experiencing symptoms of a rare genetic disorder. Go to probablygenetic.com, fill out a survey, and see if you qualify for a free genetic test so we can get more patients diagnosed who have been in buckets and under umbrellas for too long.\\n\\nEPISODE HIGHLIGHTS\\n\\nWhat led you to specialize in rare disease?\\nI became fascinated by genetics, knew it was a field I wanted to be involved in and two professors I worked with were rare disease icons. One of them built the 100,000 Genomes Project, which is the largest rare disease study on the planet.\\xa0\\n\\nHow was Probably Genetic born?\\xa0\\nWhen I was working on the 100,000 Genomes Project as a PhD student, I needed patients' phenotypes in a structured format so I could figure out what was causing their disease when I analyzed their genome. The idea I had was that if we could develop an algorithm, we could flag undiagnosed patients and share that insight with their doctor for further testing. With re-energized inspiration from a parent, our core idea shifted to develop phenotype technology which parents or patients would contribute to, and couple that with a telemedicine genetic testing service so undiagnosed patients receive a test kit and subsequent clinical lab report to share with their provider.\\xa0\\n\\nCan you talk about the first survey on autism?\\nThe mission of the company is to diagnose 200 million rare genetic disease patients. We think there are about 40 million people on the planet who have a rare disease, and at least 50% of them aren't diagnosed. There are many rare diseases for which autism is part of the phenotype, but there's a large underdiagnosis rate. Children with an autism diagnosis often don't have genetic testing, but for a lot of conditions that present with autism symptoms, we have a good chance at finding rare disease through testing.\\xa0\\n\\nWhat is the most rewarding aspect of starting Probably Genetic?\\nIt's really hard to build the type of technology and service we're building. It requires raising a lot of money, recruiting really smart people, and understanding compliance constraints so that you can make the service safe for people. It took a long time and took a real toll on my personal mental health also. We eventually got to this point where, as a team, we had a huge sense of accomplishment realizing we made a difference in a life based on this crazy idea we had. In this particular case, this patient had an ultra rare mitochondrial disorder that comes with very severe muscle weakness where patients lose their ability to breathe independently. This person saw an ad for our service on Facebook while they were hospitalized on a ventilator. It was bittersweet-- the sweet side of it being that we were able to find this person, get them an answer and get them a clinical lab report. It was great proof of concept for us, but also unbelievable that no one initiated genetic testing for this patient before then.\\n\\n\\nLINKS & RESOURCES MENTIONED\\nSeattle Rare Disease Fair & Summit 2023 Registration\\nhttps://app.smartsheet.com/b/form/14aefca977cd43548885a2d1b4f1f2d5\\n100,000 Genomes Project\\nhttps://www.genomicsengland.co.uk/initiatives/100000-genomes-project\\nThe Disorder Channel\\nhttps://www.thedisordercollection.com/\\nProbably Genetic\\nhttps://www.probablygenetic.com/\\nEmail Lukas\\nlukas@probablygenetic.com\\nCONNECT WITH EFFIE PARKS\\nWebsite\\nhttps://effieparks.com/\\nTwitter\\nhttps://twitter.com/OnceUponAGene\\nInstagram\\nhttps://www.instagram.com/onceuponagene.podcast/?hl=en\\nBuilt Ford Tough Facebook Group\\nhttps://www.facebook.com/groups/1877643259173346/\\n\\nInterested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!"