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My SisterMy Sister’’s Keepers Keeper
Science Background TalkScience Background Talk
OutlineOutline
�� Acute promyelocytic leukemia (APL)Acute promyelocytic leukemia (APL)
�� APL TreatmentAPL Treatment
�� ““Savior SiblingsSavior Siblings””
�� In vitro In vitro fertilization (IVF)fertilization (IVF)
�� PrePre--implantation Genetic Diagnosis implantation Genetic Diagnosis
(PGD)(PGD)
�� Risks of donating a kidneyRisks of donating a kidney
Acute promyelocytic leukemia (APL)Acute promyelocytic leukemia (APL)
�� APL is a rare type of acute myeloid leukemia APL is a rare type of acute myeloid leukemia
(AML)(AML)
�� APL is caused by translocation between APL is caused by translocation between
chromosomes 15 and 17chromosomes 15 and 17
�� This leads to a deficiency of mature myelocytes This leads to a deficiency of mature myelocytes
and excess of immature promyelocytesand excess of immature promyelocyteshttp://www.trisenox.com/patient/images/212imagehttp://www.trisenox.com/patient/images/212image--a.jpga.jpg
APL SymptomsAPL Symptoms
�� Fatigue, weakness, shortness of breathFatigue, weakness, shortness of breath
�� ��From anemia (low red blood cells)From anemia (low red blood cells)
�� Easy bruising and bleedingEasy bruising and bleeding
�� �� From thrombocytopenia (low platelets)From thrombocytopenia (low platelets)
�� Fever and infectionFever and infection
�� ��From the lack of normal white blood cellsFrom the lack of normal white blood cells
�� Abdominal discomfortAbdominal discomfort
�� �� Due to the enlargement of spleenDue to the enlargement of spleen
APL TreatmentAPL Treatment
�� Initial treatmentInitial treatment includes:includes:
�� Chemotherapy + ATRA (allChemotherapy + ATRA (all--trans retionic acid)trans retionic acid)
�� This induces remission in 80This induces remission in 80--90% of patients90% of patients
�� After there are signs of remission, need to After there are signs of remission, need to
undergo undergo consolidation therapyconsolidation therapy to to ““consolidateconsolidate””
the remissionthe remission
�� This often includes two more courses of ATRA and This often includes two more courses of ATRA and
chemotherapychemotherapy
�� After consolidation therapy, undergo After consolidation therapy, undergo
maintenance therapymaintenance therapy for at least one yearfor at least one year
APL TreatmentAPL Treatment
�� Bone marrow, Bone marrow,
peripheral blood, and peripheral blood, and
umbilical cord umbilical cord
transplantstransplants
�� These transplants These transplants
restore lost blood cells restore lost blood cells
thereby allowing thereby allowing
doctors to use higher doctors to use higher
doses of chemo and doses of chemo and
radiation to fight the radiation to fight the
cancercancer
http://www.chop.edu/export/system/galleries/images/hospital/conditions/bone-marrow-transplant-125422.gif
Savior SiblingsSavior Siblings
�� The creation of a genetically matched The creation of a genetically matched
human being in order to be the savior of a human being in order to be the savior of a
sick child in need of a donorsick child in need of a donor
�� Since savior siblings are genetically designed, Since savior siblings are genetically designed,
they are sometimes called they are sometimes called ““designer babiesdesigner babies””
Role of Role of ““Savior SiblingsSavior Siblings”” (SS)(SS)
�� SS can donate SS can donate umbilical cord blood stem umbilical cord blood stem cellscells at birthat birth
�� Later in life, SS can donate Later in life, SS can donate bone marrowbone marrow�� Donor receives Growth Hormone injections Donor receives Growth Hormone injections
for 3 days prior to bone marrow donationfor 3 days prior to bone marrow donation
�� After donation, donors may feel stiff, sore, After donation, donors may feel stiff, sore, tired for 2tired for 2--3 days and may not fully recover 3 days and may not fully recover strength for 3strength for 3--4 weeks4 weeks
�� SS can also be a potential SS can also be a potential organ donororgan donor
Real Real ““Savior SiblingsSavior Siblings””
�� Nash Family (USA)Nash Family (USA)�� 6 year old daughter had Fanconi6 year old daughter had Fanconi’’s anemias anemia
�� A A ““saviorsavior”” son was born as a donor for sisterson was born as a donor for sister
�� British Hashmi Family (U.K.)British Hashmi Family (U.K.)�� Son had hereditary Beta ThalassanemiaSon had hereditary Beta Thalassanemia
�� After the family appealed, the UKAfter the family appealed, the UK’’s HFEA s HFEA (Human
Fertilisation and Embryology Authority) allowed use of allowed use of PGD/IVF to create a Savior SiblingPGD/IVF to create a Savior Sibling
�� Whitaker Family (U.K.)Whitaker Family (U.K.)�� 3 year old son had Diamond3 year old son had Diamond--Blackfan anemia from Blackfan anemia from
nonhereditary genetic mutationnonhereditary genetic mutation
�� The UKThe UK’’s HFEA denied the use PGD so the family s HFEA denied the use PGD so the family went to Chicago to create a Savior Siblingwent to Chicago to create a Savior Sibling
Designing a Designing a ““Savior SiblingSavior Sibling””
�� Kate needs a perfect HLA embryo match Kate needs a perfect HLA embryo match
in order to receive cord bloodin order to receive cord blood
�� HLA: Human Leukocyte AntigenHLA: Human Leukocyte Antigen
�� Design a Savior Sibling using:Design a Savior Sibling using:
�� In vitro In vitro fertilization (IVF)fertilization (IVF)
�� PrePre--Implantation Genetic Diagnosis (PGD)Implantation Genetic Diagnosis (PGD)
IVFIVF
�� IVF is a method of IVF is a method of
assisted reproductionassisted reproduction
�� In IVF, sperm and In IVF, sperm and
egg are combined egg are combined
and fertilized and fertilized in vitro in vitro
((““in glassin glass””))
�� Then 2Then 2--4 of the 4 of the
resulting embryos are resulting embryos are
transferred to transferred to
womenwomen’’s uterus for s uterus for
implantationimplantationhttp://www.scientificamerican.com/media/inline/blog/Image/in-vitro-fertilization.jpg
PGDPGD�� PGD involves the PGD involves the
screening of early screening of early
embryos for selection of embryos for selection of
‘‘healthyhealthy’’ embryoembryo
�� To screen embryos, a To screen embryos, a
single cell is removed from single cell is removed from
88--cell embryos for genetic cell embryos for genetic
testingtesting
�� The selected embryo is The selected embryo is
then implanted into then implanted into
mothermother’’s uterus with IVF s uterus with IVF
and the remaining and the remaining
embryos are rejectedembryos are rejectedhttp://static.howstuffworks.com/gif/designer-children-pgd.gif
Embryo BiopsyEmbryo Biopsy
http://www.ivf-amman.com/images/IVF/embryo.jpg
Embryo BiopsyEmbryo Biopsy
http://www.nature.com/nrg/journal/v3/n12/images/nrg953-f1.jpg
Risks of Donating a KidneyRisks of Donating a Kidney
�� 33--5 day hospitalization5 day hospitalization
�� 22--3 months recovery time3 months recovery time
�� No pregnancy complicationsNo pregnancy complications
�� Long term side effects include:Long term side effects include:�� Slight chance of high blood pressure, and Slight chance of high blood pressure, and
excess protein in urineexcess protein in urine
�� Remaining kidney will grow to compensateRemaining kidney will grow to compensate
�� Up to a 1% chance that remaining kidney will failUp to a 1% chance that remaining kidney will fail
�� Must avoid certain pain medications (ex. Must avoid certain pain medications (ex. Ibuprofen)Ibuprofen)
Works ReferencedWorks Referenced�� "Acute Promyelocytic Leukemia." MedicineNet. Web. 5 Mar. 2010. "Acute Promyelocytic Leukemia." MedicineNet. Web. 5 Mar. 2010.
<http://www.medterms.com/script/main/art.asp?articlekey=19758>.<http://www.medterms.com/script/main/art.asp?articlekey=19758>.
�� "The Age of "Savior Siblings"" "The Age of "Savior Siblings"" Westchester Institute for Ethics and the Human PersonWestchester Institute for Ethics and the Human Person. 9 . 9 Oct. 2007. Web. 4 Feb. 2010. <http://www.westchesterinstitute.neOct. 2007. Web. 4 Feb. 2010. <http://www.westchesterinstitute.net/et/e--column/2007column/2007--archive/248>.archive/248>.
�� "Frequently Asked Questions about Living Donor Kidney Transplant"Frequently Asked Questions about Living Donor Kidney Transplant." ." Kidney TransplantKidney Transplant. . Mayo Clinic. Web. 18 Feb. 2010. <http://www.mayoclinic.org/kidneMayo Clinic. Web. 18 Feb. 2010. <http://www.mayoclinic.org/kidneyy--transplant/livingdonorfaq.html>.transplant/livingdonorfaq.html>.
�� "In Vitro Fertilization." EMedicine Health. Web. 12 Feb. 2010. "In Vitro Fertilization." EMedicine Health. Web. 12 Feb. 2010. <http://www.emedicinehealth.com/in_vitro_fertilization/article_e<http://www.emedicinehealth.com/in_vitro_fertilization/article_em.htm>.m.htm>.
�� "Kidney Donation: Are There Long"Kidney Donation: Are There Long--term Risks?" term Risks?" Medical Information and Tools for Healthy Medical Information and Tools for Healthy LivingLiving. Mayo Clinic. Web. 16 Feb. 2010. <http://www.mayoclinic.com/hea. Mayo Clinic. Web. 16 Feb. 2010. <http://www.mayoclinic.com/health/kidneylth/kidney--donation/AN01988>.donation/AN01988>.
�� "Living Kidney Donation." Living Donors Online! Web. 16 Feb. 201"Living Kidney Donation." Living Donors Online! Web. 16 Feb. 2010. 0. <http://www.livingdonorsonline.org/kidney/kidney6.htm>.<http://www.livingdonorsonline.org/kidney/kidney6.htm>.
�� "'Saviour Sibling' Babies Get Green Light." New Scientist, 22 Ju"'Saviour Sibling' Babies Get Green Light." New Scientist, 22 July 2004. Web. 8 Feb. 2010. ly 2004. Web. 8 Feb. 2010. <http://www.newscientist.com/article/dn6195<http://www.newscientist.com/article/dn6195--savioursaviour--siblingsibling--babiesbabies--getget--greengreen--light.html>.light.html>.
�� "Saviour Sibling." World Wide Words, 11 Aug. 2007. Web. 16 Feb. "Saviour Sibling." World Wide Words, 11 Aug. 2007. Web. 16 Feb. 2010. 2010. <http://www.worldwidewords.org/turnsofphrase/tp<http://www.worldwidewords.org/turnsofphrase/tp--sav1.htm>.sav1.htm>.
�� Sibler, M.D., Sherman J. "PreSibler, M.D., Sherman J. "Pre--Implantation Genetic Diagnosis (PGD)." Infertility Clinic of Implantation Genetic Diagnosis (PGD)." Infertility Clinic of Saint Louis, 2009. Web. 16 Feb. 2010. <http://www.infertile.com/Saint Louis, 2009. Web. 16 Feb. 2010. <http://www.infertile.com/infertilityinfertility--treatments/pgd.htm>.treatments/pgd.htm>.
�� "Treatment of Acute Promyelocytic (M3) Leukemia." "Treatment of Acute Promyelocytic (M3) Leukemia." Information and Resources for Information and Resources for CancerCancer. American Cancer Society. Web. 5 Mar. 2010. . American Cancer Society. Web. 5 Mar. 2010. <http://www.cancer.org/docroot/CRI/content/CRI_2_4_4x_Treatment_<http://www.cancer.org/docroot/CRI/content/CRI_2_4_4x_Treatment_of_Acute_Promyelocof_Acute_Promyelocytic_M3_Leukemia_AML.asp>.ytic_M3_Leukemia_AML.asp>.