A new treatment that could help children born with a rare genetic condition has been developed at the Washington University School of Medicine in Missouri based on a two-decades-old discovery by a researcher now at the Greenwood Genetic Center.

The condition, ectodermal dysplasia, anhidrotic, or EDA, causes sparse hair, abnormal or missing teeth and no sweat glands and largely affects boys, according to the center. An inability to sweat can lead to hyperthermia, which can cause brain damage, officials said.

The new treatment, which is in clinical trials now, is a recombinant protein that initiates a cascade of molecular and cellular events that leads to the proper development of hair, teeth and sweat glands, said Dr. Anand Srivastava, associate director of the JC Self Research Institute’s Center for Molecular Studies at GGC.

Prior to arriving at GGC in 1995, Srivastava identified the gene that causes EDA while he was a researcher at Washington University, according to the center. In the intervening years, he and a team of international colleagues continued to work on the condition.

The drug, which was developed by Edimer Pharmaceuticals, has been shown to correct some of the symptoms of the condition, officials said.

“This drug is showing great promise as a therapy and potential cure for patients with … EDA,” said Srivastava. “We are so excited that our work here at GGC has been instrumental in the understanding of this disease that has led to this breakthrough.”

Clinical trials began in 2012 that call for five doses of the drug administered intravenously during the first month of life, officials said.

“This is a great success story of a disease gene discovery leading to diagnosis and treatment,” said GGC director Dr. Steve Skinner, “and exemplifies the importance of partnerships between research laboratories, clinicians and industry to achieve treatment realities for many genetic disorders.”

Read more of the original article here.

16 thoughts on “Possible New Treatment for Ectodermal Dysplasia Through Research at Greenwood Genetic Center”

  1. Mehmood Khawaja says:

    My son is carrying this problem, but since birth has shown some

  2. Mehmood Khawaja says:

    My son is having same problem, many consultants have told me to let it go like that coz it has no cure, but I know there is somewhere is the cure.
    Plz inform me about it and guide me in this regards as my son has proved a lot , teeth have come up and good amount of hair appeared on.head
    Waiting for ur guidence

  3. mehmood khawaja says:

    plz plz can anyone tell me about the treatment for my son
    I live in a country where its very hard to survive, electricity is a huge problem here, I can even afford air conditioner for him as doctors have suggested to always keep him in cool place
    plz do me a huge favour and guide me

  4. Rahul inamdar says:

    my son is with same above problem will I get an help

  5. bhuva says:

    My Boy baby also have this problem.
    Please tell where we will the treatment for this disorder.
    please help to cure from this.

  6. VERA GAMEZ says:

    Hello,
    I am a 53 years old female. I have been diagnosed with Ectodermal Dysplasia due to several conditions I have developed. I’d like to know where can I get information for treatment in Mexico or in the United States.
    I have hearing problems (deafness from skin thickening), thin hair
    and recently eye problems (dry eye, blepharitis, trichiasis, photophobia to mention some)
    I appreciate your advise.
    Kindly,

  7. Ezia Paola Sasso says:

    Vi chiedo di poter accedere alla terapia sperimentale con EDI200
    eziapaolasasso@libero.it
    cell. 3288785786
    Italy

    Sesso: F / 49 anni
    Analisi molecolare mediante Next Generation Sequencing (NGS*)
    L’analisi molecolare ha evidenziato la presenza di due varianti di sequenza in eterozigosi
    (eterozigosi composta) a carico del gene EDAR (2q12.3):
    Esone 4 p.Asp67Gly (p.D67G)
    Esone 8 p.Ser238Gly (p.S238G)
    ASPETTO RISPOSTA

  8. Paresh Thakkar says:

    My daughter has same problem it would be great help if there is cure can you plz help.

  9. Reiko Penunuri says:

    Hello, is there a current trail treatment? My son has been diagnosed and is 1 year 3 months. Thnx

  10. Hi, my daughter is 2yrs and has very pointy teeth. She is a happy little girl. When she started teething I noticed that her two bottom teeth were. Coming in pointy. I said maybe it would be only those two. But now it’s a full mouth of pointy teeth. It does not bother her and thank god she is not a bitter.
    It bothered me a lot. Being that she will start school soon. Just To see and hear the comments of others. I wondered what did I did. Could this have been prevented.

    This website really really helped me a lot. Thanks
    I now also have a 1 year old girl and it looks like she is also getting the pointy teeth.
    But u know what. I am happy I Have beautiful health girls.

  11. Pat illman says:

    Will this be available to children soon?

  12. Ajay says:

    Please tell us if there is any possible way for treatment.

  13. Anthony P Mitchell says:

    I am 50 years old and was diagnosed at birth with hypo hidrotic ectodermal dysplasia and had dentures fitted since the age of like 9yrs old , as well as all the other symptoms but most of all dealing with the no sweat glands was the most challenging thing the deal with. About six years ago afters 20 plus years of writing I published a book titled living without sweat glands the research here has given answers I never knew I’d love to discuss with my book please contact me.

  14. prasad says:

    hello sir my son age is 2years 4 month . Now i know he suffer from it. if any treatment is available please tell me .

  15. Mahmoud says:

    Im in egypt i suffer from this problem but the weather soooo hot i cant work i cant go any places i have 30 years i have depreesin i wanna live in cold country i cant waik in the crowded and hot street i havnt sweat glands i wanna live in usa or any cold country my life sooo bad

  16. I am close to 90 years. Lately, I have developed “Ectodermal dì Displasia” in my right palm. Is there any cure that you can suggest? Thanking you, I remain. Cordially yours . Dr. Y.K.S. Murthy

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