A Genetic Treatment for Sickle Cell Disease | HHMI BioInteractive Video

00:05:47
https://www.youtube.com/watch?v=d9Kq_h4z3xs

Sintesi

TLDRThe video explores the lives of Ceniya Harris and Ingrid Ortiz, both affected by sickle cell disease. Ceniya has a unique genetic mutation that allows her to produce fetal hemoglobin, preventing symptoms, while Ingrid suffers from severe pain crises and complications. The video explains the genetic basis of the disease, the challenges faced by patients, and ongoing research into treatments that could reactivate fetal hemoglobin production, offering hope for better management of sickle cell disease.

Punti di forza

  • 👶 Ceniya Harris was diagnosed with sickle cell disease at birth.
  • 😢 Ceniya's parents felt devastated upon learning about her condition.
  • 🌍 Sickle cell disease affects approximately 100,000 Americans and millions globally.
  • 🧬 The disease is caused by a mutation in the HBB gene affecting hemoglobin.
  • 💔 Ingrid Ortiz experiences frequent pain crises and has had over 15 blood transfusions.
  • 🏥 Some patients may benefit from bone marrow transplants if a match is found.
  • 🔬 Ceniya's health is better due to her continued production of fetal hemoglobin.
  • 💡 Researchers are exploring ways to switch fetal hemoglobin back on as a treatment.
  • 🧪 Clinical trials are underway to test new therapies for sickle cell disease.
  • 🌟 New treatments offer hope for patients and families affected by the disease.

Linea temporale

  • 00:00:00 - 00:05:47

    Ceniya Harris was diagnosed with sickle cell disease at birth, which deeply affected her parents, Crystal Kelley and Clifton Harris, due to their family history with the disease. Sickle cell disease affects around 100,000 Americans and millions globally, stemming from a mutation in the HBB gene that alters hemoglobin, leading to painful crises and complications. While some patients like Ingrid Ortiz suffer severe pain and complications, Ceniya remains symptom-free due to a second mutation that allows her to continue producing fetal hemoglobin, which prevents the disease's effects. This difference in experiences highlights potential new treatment approaches that aim to reactivate fetal hemoglobin production in patients like Ingrid, offering hope for future therapies.

Mappa mentale

Video Domande e Risposte

  • What is sickle cell disease?

    Sickle cell disease is a genetic disorder caused by a mutation in the HBB gene, leading to misshapen red blood cells that can cause pain and complications.

  • How many people are affected by sickle cell disease?

    Approximately 100,000 Americans and millions globally are affected by sickle cell disease.

  • What are the symptoms of sickle cell disease?

    Symptoms include pain crises, frequent hospitalizations, and complications such as chronic organ damage.

  • Can sickle cell disease be cured?

    Currently, a bone marrow transplant can cure sickle cell disease, but finding a compatible donor is challenging.

  • What is the significance of fetal hemoglobin in sickle cell disease?

    Fetal hemoglobin can prevent the symptoms of sickle cell disease, as seen in Ceniya Harris, who continues to produce it.

  • What new treatments are being researched for sickle cell disease?

    Researchers are exploring therapies that could switch fetal hemoglobin production back on to alleviate symptoms.

  • What challenges do patients with sickle cell disease face?

    Patients often experience severe pain, frequent medical interventions, and complications that can affect their quality of life.

  • What role do clinical trials play in sickle cell disease treatment?

    Clinical trials are essential for testing new therapies aimed at increasing fetal hemoglobin expression and improving patient outcomes.

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Scorrimento automatico:
  • 00:00:19
    [NARRATOR:] Right after she was born, a routine blood test
  • 00:00:22
    revealed that Ceniya Harris has the genetic mutation
  • 00:00:25
    that causes sickle cell disease.
  • 00:00:28
    [CRYSTAL KELLEY:] It hit me hard. I cried. I was nervous,
  • 00:00:31
    just because I have family members that actually have the disease.
  • 00:00:34
    And I've seen them have lots of crises,
  • 00:00:36
    and a lot of hospitalizations, so I was devastated.
  • 00:00:40
    [CLIFTON HARRIS:] I have to sit here and be like "Oh yeah, you know, you'll be all right, everything's okay."
  • 00:00:43
    And then go inside and just like, oh, [cries]. Yeah, but...
  • 00:00:49
    [KELLEY:] Yeah, we kind of feel helpless.
  • 00:00:53
    [NARRATOR:] Approximately 100,000 Americans have sickle cell disease.
  • 00:00:59
    Globally, it affects millions, from different countries and backgrounds.
  • 00:01:05
    [FREDA LEWIS-HALL:] A patient told me once... I said  to her "You know, this is is very rare.
  • 00:01:09
    It only affects about 3% of people."
  • 00:01:13
    And she patted me  on my hand, and she said "Honey,
  • 00:01:15
    if it affects me, it's 100%."
  • 00:01:19
    [NARRATOR:] The cause of sickle cell  disease can be traced back to a single gene.
  • 00:01:23
    The HBB gene encodes for a subunit of hemoglobin,
  • 00:01:27
    an important protein in red blood cells.
  • 00:01:30
    A change in the HBB gene results in a mutated hemoglobin
  • 00:01:34
    that causes cells to become stiff and misshapen.
  • 00:01:38
    Ceniya's parents each have one copy of the mutation.
  • 00:01:41
    Ceniya inherited two copies of the mutation,
  • 00:01:44
    one from each parent.
  • 00:01:47
    Individuals with two copies have  mostly sickled blood cells,
  • 00:01:51
    which often clog up small blood vessels,
  • 00:01:53
    cutting off circulation from tissues
  • 00:01:56
    and leading to what are called pain crises.
  • 00:02:06
    21-year-old Ingrid Ortiz has frequent pain crises.
  • 00:02:11
    [MATT HEENEY:] It's the type of pain that you get when you break a bone.
  • 00:02:14
    Some patients do very well for  several years
  • 00:02:16
    and then have several years that are very difficult and challenging
  • 00:02:19
    with complications or the accumulation of chronic organ damage.
  • 00:02:22
    Ingrid's sort of an example of that.
  • 00:02:24
    In the last year,  she's had over 15 blood transfusions.
  • 00:02:28
    [NARRATOR:] For years, joint and muscle pain has taken a toll.
  • 00:02:33
    [INGRID ORTIZ:] 16 is when I started to get pain crises.
  • 00:02:37
    Every couple of weeks, I'm sick with the pain.
  • 00:02:40
    Constant sharp pain.
  • 00:02:44
    [NARRATOR:] It was pain in her hip that forced her to give up cheerleading.
  • 00:02:49
    Eventually, it required surgery.
  • 00:02:53
    [ORTIZ:] I almost didn't graduate. I almost didn't go to my senior prom.
  • 00:02:55
    I did plan on going to college.
  • 00:02:59
    But the first semester in September, I couldn't go, because that's when I had to get
  • 00:03:02
    another surgery for my hip.
  • 00:03:04
    [NARRATOR:] Some patients with sickle cell disease
  • 00:03:07
    can be helped with a bone marrow transplant,
  • 00:03:09
    but only if they can find a compatible donor.
  • 00:03:13
    Ingrid doesn't have a match.
  • 00:03:16
    [HEENEY:] And if you don't have a match, which  is the majority of patients,
  • 00:03:18
    there really isn't a curative option currently.
  • 00:03:21
    [NARRATOR:] Unlike Ingrid, Ceniya has  never had a single symptom.
  • 00:03:26
    [KELLEY:] A lot of times, honestly, we forget that she even has it,
  • 00:03:29
    because she hasn't had any complications.
  • 00:03:32
    [NARRATOR:] Why is Ceniya's experience so different from Ingrid's?
  • 00:03:36
    The answer can be traced back to when she was in her mother's womb.
  • 00:03:43
    With no air to breathe, fetuses must get oxygen
  • 00:03:47
    from their mother's blood.
  • 00:03:48
    To do that, they produce a special form of hemoglobin
  • 00:03:52
    that can extract  oxygen from the mother's bloodstream.
  • 00:03:55
    After birth, babies start producing adult hemoglobin.
  • 00:03:59
    By about six months of age,
  • 00:04:01
    production of the fetal hemoglobin is switched off.
  • 00:04:04
    A mutation in the adult form of hemoglobin causes sickle cell disease.
  • 00:04:10
    Both Ingrid and Ceniya have this mutation.
  • 00:04:15
    The secret to  Ceniya's surprising good health
  • 00:04:17
    is that she has a second mutation.
  • 00:04:22
    This mutation keeps Ceniya's fetal  hemoglobin production switched on.
  • 00:04:28
    Ceniya does not have a properly functioning adult hemoglobin,
  • 00:04:33
    but because she continues to produce fetal hemoglobin,
  • 00:04:36
    she does not have the same symptoms  as Ingrid.
  • 00:04:41
    Individuals like Ceniya suggest a new treatment approach.
  • 00:04:45
    [HEENEY:] So if we could somehow switch  it back to making the fetal hemoglobin,
  • 00:04:48
    then many of the complications, if not all of them, would be ameliorated.
  • 00:04:53
    [NARRATOR:] Scientists are now working to develop a treatment
  • 00:04:56
    that can switch fetal hemoglobin back on.
  • 00:05:02
    Testing it will need patient volunteers like Ingrid.
  • 00:05:06
    [HEENEY:] You know, it's a new therapy.
  • 00:05:09
    It's gonna take someone courageous, maybe like yourself,
  • 00:05:11
    who'll be interested in doing something like that.
  • 00:05:14
    [NARRATOR:] As of 2019, clinical trials are underway
  • 00:05:18
    to determine if this strategy can be used
  • 00:05:20
    to increase fetal hemoglobin expression
  • 00:05:23
    and successfully treat the disease.
  • 00:05:26
    [LEWIS-HALL:] So what's happening now is just remarkable,
  • 00:05:28
    because it does give hope
  • 00:05:30
    to patients, to families, to whole communities
  • 00:05:33
    that would never have had hope at all.
  • 00:05:36
    So this is really an amazing turning point.
  • 00:05:38
    [music plays]
Tag
  • sickle cell disease
  • genetic mutation
  • fetal hemoglobin
  • pain crises
  • blood transfusions
  • bone marrow transplant
  • clinical trials
  • treatment research
  • patient experiences
  • hope