Twenty years ago, scientists stunned the world when they announced they had decoded the genes that make up a human being. They hoped to use that genetic blueprint to advance something called gene therapy which locates and fixes the genes responsible for different diseases.
As we first reported last year, a clinical trial at the National Institutes of Health is doing exactly that in an attempt to cure sickle cell anemia a devastating genetic disease that kills hundreds of thousands of people around the world every year.
For 15 months we followed the scientists, and patients, who are ushering in a genetic revolution.
Jennelle Stephenson: I'm excited.
Ray Stephenson Today is the big day.
It's the day after Christmas, 2017, and 27-year-old Jennelle Stephenson has come with her father and brother from Florida to the National Institutes of Health, just outside Washington, D.C.
Jennelle Stephenson: Good morning.
Dr. John Tisdale: Good morning.
She's one of a small group of patients to receive an infusion containing altered DNA.
Nurse: This is what they look like.
Jennelle Stephenson: Merry Christmas to me.
Brother: Best Christmas present ever.
Jennelle Stephenson: Yay.
The clear liquid in the bag contains Jennelle's stem cells that have been genetically modified.
Dr. John Tisdale: There are about 500 million in there.
Jennelle Stephenson: Oh, my goodness.
The hope is the new DNA in the cells will cure Jennelle of sickle cell anemia, a brutal disease that causes debilitating pain.
Dr. Jon LaPook: At its worst, on a scale of zero to 10, how bad was your pain?
Jennelle Stephenson: We can go beyond a 10. It's terrible, it's horrible.
Dr. Jon LaPook: Pain where?
Jennelle Stephenson: Everywhere. My back, my shoulders, elbows, arms, legs, even my cheekbones, just pain.
Dr. Jon LaPook: Can you actually describe it?
Jennelle Stephenson: It's a very sharp, like, stabbing, almost feels like bone-crushing pain. Feels like someone's kind of constricting your bones, and then releasing constantly.
Pain from sickle cell can occur anywhere blood circulates. That's because red blood cells, normally donut-shaped, bend into an inflexible sickle shape, causing them to pile up inside blood vessels. The resulting traffic jam prevents the normal delivery of oxygen throughout the body, leading to problems that include bone deterioration, strokes and organ failure.
The gene that causes sickle cell anemia evolved in places like sub-Saharan Africa because it protects people from malaria. There, millions have the disease, and it's estimated more than 50 percent of babies born with it die before the age of five.
In the United States, it affects a hundred thousand people, mostly African-Americans.
For Jennelle, having the disease as a child often meant spending Christmas in the hospital. As an adult, she struggled through pain to complete college, but keeping a job was tough because something as simple as walking up stairs could trigger "a pain crisis."
Dr. Jon LaPook: Do you have friends who've died from sickle cell?
Jennelle Stephenson: I do. Yes, younger than me.
Dr. Jon LaPook: And you've known this your whole life growing up?
Jennelle Stephenson: Right.
Dr. Jon LaPook: That you could potentially die early?
Jennelle Stephenson: Right. Yes.
Dr. Jon LaPook: Did you think you would die early?
Jennelle Stephenson: I did, actually. When I hit about 22, I was like, "You know, I'm-- for a sickle celler, I'm kind of middle-aged right now."
Dr. Jon LaPook: What are some of the things that you've always wanted to do that you couldn't do?
Jennelle Stephenson: Honestly, everybody laughs at me for this, I just want to run, to be honest.
Dr. Jon LaPook: Things that most people would take for granted.
Jennelle Stephenson: Just basic things.
One of the most cruel parts of the disease, Jennelle and other patients have told us, is being accused of faking pain to get narcotics, being labeled a "drug-seeker." During one trip to the emergency department, when she fell to the floor in pain, a doctor refused to help her.
Jennelle Stephenson: And I'm looking up at her, and I'm in tears, and, I'm like, "I'm doing the best that I can."
Dr. Jon LaPook: And you gotta be thinking.
Jennelle Stephenson: I just, sometimes I don't understand, I don't get it. Like... Sorry. I'm in so much pain, and you think I just want some morphine. And it just makes me sad that some people in the medical community just don't get it.
Dr. Francis Collins is director of the National Institutes of Health, the largest biomedical research agency in the world. He oversees a nearly 40 billion dollar budget that funds more than 400,000 researchers world-wide.
Dr. Collins was head of the Human Genome Project at the NIH in 2000 when he made a landmark announcement: after a decade of work, scientists had finally decoded the genes that make up a human being.
Dr. Jon LaPook: When did it all start for you?
Dr. Francis Collins: I got excited about genetics as a first-year medical student. A pediatric geneticist came to teach us about how genetics was relevant to medicine. And he brought patients to class and one of the first patients he brought was a young man with sickle cell disease who talked about the experience of sickle cell crises and how incredibly painful those are. And yet, it was all because of one single letter in the DNA that is misplaced, a "T" that should have been an "A." And that was profound. You could have all of that happen because of one letter that was misspelled.
The double helix of DNA is made up of billions of pieces of genetic information. What Dr. Collins is saying is, out of all that, it's just one error in the DNA code -- a "T" that should have been an "A" -- that causes sickle cell anemia. Fix that error, and you cure the disease.
But figuring out how to do that would take more than 20 years of research and a little serendipity.
Dr. Collins was playing in the NIH rock band in 2016 when his bass player -- hematologist Dr. John Tisdale -- started riffing on an idea.
Dr. John Tisdale: We'd finished setting up and went for a pizza before--
Dr. Francis Collins: I remember that.
Dr. John Tisdale: --before the gig. And at this point I pitched to Francis that it was really time that we do something definitive for sickle cell disease.
In the laboratory, Dr. Tisdale and his collaborators created a gene with the correct spelling. Then, to get that gene into the patient, they used something with a frightening reputation: HIV, the virus that causes AIDS. It turns out HIV is especially good at transferring DNA into cells.
Here's how it works. The corrected gene, seen here in yellow, is inserted into the HIV virus. Then, bone marrow stem cells are taken from of a patient with sickle cell anemia. In the laboratory those cells are combined with the virus carrying that new DNA.
Dr. John Tisdale: This virus will then find its way to one of those cells and drop off a copy or two of the correctly spelled gene. And then these cells will go back to the patient.
If the process works, the stem cells with the correct DNA will start producing healthy red blood cells.
Dr. Jon LaPook: I can hear people, our viewers out there, thinking, "Wait a second, how do you know you're not gonna get AIDS from the HIV virus?"
Dr. John Tisdale: The short answer is we cut out the bits that cause infection in HIV and we really replace that with the gene that's misspelled in sickle cell disease so that it transfers that instead of the infectious part.
Dr. Jon LaPook: The stakes here are enormous.
Dr. Francis Collins: Yes.
Dr. Jon LaPook: There's really very little safety net here, right?
Dr. Francis Collins: Make no mistake, we're talking about very cutting-edge research where the certainty about all the outcomes is not entirely there. We can look back at the history of gene therapy and see there have been some tragedies.
Dr. Jon LaPook: Deaths?
Dr. Francis Collins: Yes.
In 1999, 18-year-old Jesse Gelsinger received altered DNA to treat a different genetic disease. He died four days later from a massive immune response. And in another trial, two children developed cancer.
Jennelle Stephenson understands. This is a trial with huge risks and no guarantees.
Jennelle Stephenson: This is it.
When she arrived at the NIH clinical center in December 2017, Jennelle asked her brother, Ray, for some help.
Jennelle Stephenson: There goes Ray cutting my hair. Oh, snip.
She decided to cut off all her hair, rather than watch it fall out from the massive dose of chemotherapy needed to suppress her immune system so her body wouldn't reject the altered stem cells.
Jennelle Stephenson: I don't know how to feel right now. I'm a little emotional. But I'm OK, it will grow back.
A few days after the chemotherapy, Jennelle received the infusion of genetically modified cells.
Dr. John Tisdale: Is it going good now?
Nurse: Yes.
Jennelle Stephenson: It's just a waiting game.
But the wait was a painful one. Not only for Jennelle, but also for her father Ray. Who did what little he could as the effects of the chemotherapy kicked in, stripping Jennelle's throat and stomach of their protective layers.
Jennelle Stephenson: Oh, that hurts.
She was unable to speak for a week and lost 15 pounds. And because having a severely weakened immune system means even a mild cold can turn deadly, Jennelle had to stay in the hospital for nearly a month.
After moving back to Florida, she returned to the NIH for periodic check-ups.
Dr. John Tisdale: These are her red blood cells.
It didn't take long for Dr. Tisdale to notice something was happening.
Dr. Jon LaPook: This is Jennelle before any treatment?
Dr. John Tisdale: Right. All across her blood you can see these really abnormal shapes. This one in particular is shaped like a sickle.
Nine months later, this is what Dr. Tisdale saw: not a sickle cell in sight.
Dr. Jon LaPook: Was there ever a moment where you saw one of these normal-looking smears and thought, "Is this the right patient?"
Dr. John Tisdale: Oh, absolutely. When you're a scientist, you're skeptical all the time. So, first thing you do is look and make sure it's that patient, go grab another one, make sure it's the same. And we've done all that. And, indeed, her blood looks normal.
Jiu-Jitsu Teacher: Move. Switch your arms and move.
Remember, Jennelle used to struggle just to walk up a flight of stairs...
Jiu-Jitsu Teacher: And you fall.
...and a fall like this would have landed her in the hospital.
Jiu-Jitsu Teacher: Boom. Yeah. Good job. You did it. Bam.
Dr. Jon LaPook: Jennelle. You look amazing.
Jennelle Stephenson: Thank you.
Dr. Jon LaPook: I have to say, I was a little nervous when you were thrown and you went down on the mat.
Jennelle Stephenson: It was nothing. It was nothing. My body just felt strong.
Dr. Jon LaPook: Tell me about the adjustment that you need to make to go from the old you to the new you.
Jennelle Stephenson: My body it almost felt like it was, like, itching to do more. And I was like, "All right, well, let's go swimming today." "Let's go to the gym today." I'm like, all right, my body loves this. I kinda like it because my, I guess all my endorphins started pumping.
Dr. Jon LaPook: The endorphin high, something you had never experienced.
Jennelle Stephenson: Never experienced before. Yup.
Visit link:
Sickle cell anemia: Could gene therapy cure sickle cell anemia? "60 Minutes" - CBS News
- Biology of stem cells: an overview - PMC - National Center for ... - March 26th, 2024
- Iron Limitation Preserves Youthfulness of Blood Stem Cells - Mirage News - March 13th, 2024
- Mini organs grown from stem cells of unborn babies for the first time in breakthrough - The Mirror - March 9th, 2024
- The Effect of Short-Term NAD3 Supplementation on Circulating Adult Stem Cells in Healthy Individuals Aged 40-70 ... - Cureus - March 7th, 2024
- University of Liverpool Spin-Out Emerges, Pioneering Novel Adult Stem Cell-Based Therapies - India Education Diary - March 7th, 2024
- Scientists have used cells from fluid drawn during pregnancy to grow mini lungs and other organs - Yahoo News Canada - March 6th, 2024
- Japan approves new stem cell-based Alzheimer's therapy By Proactive Investors - Investing.com Australia - January 20th, 2024
- Cyberstalking pits Harvard professor against PubPeer Retraction ... - Retraction Watch - December 5th, 2023
- 10 functional health predictions for 2024, according to a doctor and ... - 1330 WFIN - December 5th, 2023
- See the Brain Like Never Before in This Gorgeous Art - Scientific American - December 5th, 2023
- Geron Announces Publication in The Lancet of Results from the ... - BioSpace - December 5th, 2023
- Stem cell injections could be the key to curing MS - Freethink - December 3rd, 2023
- Jaypirca (pirtobrutinib) Now Approved by U.S. FDA for the ... - Investors | Eli Lilly and Company - December 3rd, 2023
- Comparative Efficacy and Safety of Four JAK Inhibitors for ... - HealthDay - December 3rd, 2023
- City lights up for Francis on Anthony Nolan's birthday - Liverpool Express - December 3rd, 2023
- NOT-AR-23-022: Request for Information on Themes for the NIAMS ... - National Institutes of Health (.gov) - December 3rd, 2023
- December 2023: Intramural Papers of the Month - Environmental Factor Newsletter - December 1st, 2023
- CNA Explains: What is cord blood banking and why do parents do it? - CNA - December 1st, 2023
- Regulation of myogenesis and adipogenesis by the electromagnetic ... - Nature.com - December 1st, 2023
- The effects of vitamin K on bone health - News-Medical.Net - December 1st, 2023
- Dr Hurwitz on Ongoing Investigations of the Use of CAR T-Cell ... - OncLive - December 1st, 2023
- Mitophagy in human health, ageing and disease - Nature.com - December 1st, 2023
- Adult Stem Cells - Stem Cells and the Future of Regenerative Medicine ... - November 29th, 2023
- Navigating The Regulatory Landscape Of Longevity Health Products ... - Mondaq News Alerts - November 29th, 2023
- MS breakthrough could lead to treatments that halt disease's ... - inews - November 29th, 2023
- Reprogramming tissue mechanically to promote wound healing - Phys.org - November 29th, 2023
- Latest Advances in Arthritis Diagnosis and Treatment at American ... - HealthDay - November 29th, 2023
- Sex-associated differences in frequencies and prognostic impact of ... - Nature.com - November 29th, 2023
- Hematologists Dive into the Current Treatment Landscape - OncLive - November 29th, 2023
- Team discovers protein crucial for B cell differentiation and antibodies - Phys.org - November 29th, 2023
- Science Talk - I survived cancer as a child and now I'm working to ... - The Institute of Cancer Research - November 29th, 2023
- First Edition: Nov. 29, 2023 - KFF Health News - November 29th, 2023
- Symptoms: Unilateral Hearing Loss and Tinnitus : The Hearing Journal - LWW Journals - November 29th, 2023
- Mitigation of sepsis-induced acute lung injury by BMSCs | IJN - Dove Medical Press - November 29th, 2023
- A Case of a Constricted Vessel: The Impact of Acute Myeloid ... - Cureus - November 29th, 2023
- Mum brushed off fatigue after having baby but fall sparked deadly diagnosis - The Mirror - November 29th, 2023
- How heritable is the epigenome? - Drug Discovery News - November 29th, 2023
- The Blueprint of Regeneration: Scientists Discover How to Turn Stem Cells Fate - Revyuh - November 27th, 2023
- BrainStorm Cell Therapeutics Announces In-Person Meeting with ... - Marketscreener.com - November 27th, 2023
- Stem Cell Therapy Developed in Korea Begins Treatment for ... - PharmiWeb.com - November 25th, 2023
- COVID-19 Pandemic's Adverse Effect on Bone Health in Young ... - HealthDay - November 25th, 2023
- Sickle cell breakthrough - The Indian Express - November 25th, 2023
- Wall thickness analysis method for judging the degree of lower ... - Nature.com - November 25th, 2023
- Century Therapeutics to Present at the Piper Sandler 35th Annual Healthcare Conference - Yahoo Finance - November 23rd, 2023
- Disease Transmission and Diagnosis of Zika Virus - Cureus - November 23rd, 2023
- Gene-editing therapy for sickle cell earns conditional approval in UK - Sickle Cell Disease News - November 23rd, 2023
- Stem Cell Therapy Developed in Korea Begins Treatment for ... - Newswire - November 21st, 2023
- Efficacy of ADSC-CM in Patients with Telogen Effluvium | SCCAA - Dove Medical Press - November 21st, 2023
- BrainStorm Cell Therapeutics Announces In-Person Meeting with ... - PR Newswire - November 21st, 2023
- The Impact of CAR T Cell Therapy on Managing R/R LBCL - OncLive - November 21st, 2023
- Mansour bin Zayed witnesses inauguration of ADSCC Bone Marrow Transplant & Cellular Therapy Congress 2023 - ZAWYA - November 21st, 2023
- Listeria: Who is most susceptible? What are the Symptoms? What ... - Food Poison Journal - November 21st, 2023
- Scope Of Issued Patents May Be Limited By Prosecution Estoppel ... - Mondaq News Alerts - November 21st, 2023
- Qrons Announces the Addition of Professor Shiri Navon-Venezia to ... - StreetInsider.com - November 21st, 2023
- Financially strapped Athersys raises $10.4M - cleveland.com - November 19th, 2023
- From the India Today archives (2010) | How stem cells can save your life - India Today - November 19th, 2023
- Inactivation of the tumor suppressor gene Apc synergizes with H ... - Science - November 19th, 2023
- The Origins of Multiple Myeloma and Why it Matters - HealthTree For AML - Acute Myeloid Leukemia - November 19th, 2023
- Treatment Considerations With TROP2-Targeted Therapy - OncLive - November 19th, 2023
- Athersys narrows loss, raises $10.4 million during third quarter to ... - The Business Journals - November 17th, 2023
- Who was Dolly the Sheep and what happened to her? The story of ... - BBC Countryfile Magazine - November 17th, 2023
- UK first to approve CRISPR treatment for diseases: what you need to ... - Nature.com - November 17th, 2023
- 1st sickle cell patient to be given therapy restoring fetal hemoglobin - Sickle Cell Disease News - November 15th, 2023
- Century Therapeutics Reports Third Quarter 2023 Financial Results and Provides Business Updates - Century - Benzinga - November 13th, 2023
- Century Therapeutics Appoints Brent Pfeiffenberger, Pharm.D., MBA, as Chief Executive Officer - Yahoo Finance - November 11th, 2023
- Century Therapeutics and FUJIFILM Cellular Dynamics Announce Licenses for the Development and Commercialization of iPSC-Derived Cell Therapies in... - November 11th, 2023
- AAO 2023: Paul Runge and his ROP treatments in the Ukraine - Modern Retina - November 11th, 2023
- The Evolutionary Reasons We Are Drawn To Horror Movies and ... - Slashdot - November 11th, 2023
- Century Therapeutics Reports Third Quarter 2023 Financial Results ... - GlobeNewswire - November 11th, 2023
- Century Therapeutics Reports Third Quarter 2023 Financial Results ... - StreetInsider.com - November 9th, 2023
- NYU Langone Health Performs World's First Whole-Eye & Partial ... - NYU Langone Health - November 9th, 2023
- BrainStorm to Announce Third Quarter 2023 Financial Results and ... - BioSpace - November 9th, 2023
- Can we cut cost and pain of IVF? Start-up CEO tries out own ... - Genetic Literacy Project - November 9th, 2023
- Jasper Therapeutics Reports Third Quarter 2023 Financial Results ... - BioSpace - November 9th, 2023
- Impaired neural stress resistance and loss of REST in bipolar ... - Nature.com - November 9th, 2023
- Functional genomics and systems biology in human neuroscience - Nature.com - November 9th, 2023
- Trial launched to test CAR T-cell therapy in dogs diagnosed with ... - EurekAlert - November 9th, 2023
- The-Gut's-Lasting-Impact-on-Severe-COVID-19-Immune-Response - Infectious Disease Special Edition - November 9th, 2023
- Emerging Cure for Sickle Cell on its Way to FDA Approval, Carries ... - Dallasweekly - November 7th, 2023
- The science works, but will we pay for it? - Irish Medical Times - November 7th, 2023
Recent Comments