February 15, 2016
- Condition: cone-rod dystrophy
- Gene: CRX: cone-rod homeobox
February 8, 2016
- Condition: methylmalonic acidemia with homocystinuria
- Gene: ABCD4: ATP binding cassette subfamily D member 4
- Gene: HCFC1: host cell factor C1
- Gene: LMBRD1: LMBR1 domain containing 1
- Gene: MMACHC: methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
February 1, 2016
- Gene: SLC52A2: solute carrier family 52 (riboflavin transporter), member 2
January 25, 2016
- Condition: heterotaxy syndrome
January 18, 2016
- Condition: ALG1-congenital disorder of glycosylation
- Gene: ALG1: ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
- Gene: CAV1: caveolin 1
- Gene: PTRF: polymerase I and transcript release factor
December 28, 2015
- Condition: allergic asthma
- Condition: clopidogrel resistance
- Gene: CYP2C19: cytochrome P450 family 2 subfamily C member 19
December 21, 2015
- Condition: Tietz syndrome
December 14, 2015
- Condition: Nicolaides-Baraitser syndrome
- Gene: HOGA1: 4-hydroxy-2-oxoglutarate aldolase 1
- Gene: SMARCA2: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
December 7, 2015
- Condition: 3MC syndrome
- Condition: complement component 8 deficiency
- Condition: DOORS syndrome
- Condition: hepatic lipase deficiency
- Condition: hereditary xanthinuria
- Gene: C8A: complement component 8, alpha polypeptide
- Gene: C8B: complement component 8, beta polypeptide
- Gene: COLEC11: collectin subfamily member 11
- Gene: LIPC: lipase C, hepatic
- Gene: MASP1: mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
- Gene: MOCOS: molybdenum cofactor sulfurase
- Gene: TBC1D24: TBC1 domain family member 24
- Gene: XDH: xanthine dehydrogenase
November 18, 2015
- Is hair texture determined by genetics?
- Condition: keratoderma with woolly hair
- Gene: DLL4: delta-like 4 (Drosophila)
- Gene: DSC2: desmocollin 2
- Gene: DSP: desmoplakin
- Gene: JUP: junction plakoglobin
- Gene: KANK2: KN motif and ankyrin repeat domains 2
November 9, 2015
- Condition: 5q minus syndrome
- Condition: CHOPS syndrome
- Condition: deafness and myopia syndrome
- Gene: AFF4: AF4/FMR2 family member 4
- Gene: MIR145: microRNA 145
- Gene: MIR146A: microRNA 146a
- Gene: RPS14: ribosomal protein S14
- Gene: SLITRK6: SLIT and NTRK like family member 6
October 19, 2015
- Condition: atopic dermatitis
- Condition: autosomal recessive hyper-IgE syndrome
- Condition: collagen VI-related myopathy
- Gene: DOCK8: dedicator of cytokinesis 8
- Gene: FLG: filaggrin
October 12, 2015
- Condition: dopamine transporter deficiency syndrome
- Gene: SLC6A3: solute carrier family 6 (neurotransmitter transporter), member 3
October 5, 2015
- Condition: lung cancer
- Condition: ovarian cancer
- Gene: EGFR: epidermal growth factor receptor
September 20, 2015
- Condition: Glanzmann thrombasthenia
- Gene: ITGA2B: integrin subunit alpha 2b
- Gene: ITGB3: integrin subunit beta 3
September 14, 2015
- Is the probability of having twins determined by genetics?
- Gene: DVL1: dishevelled segment polarity protein 1
- Gene: HDAC8: histone deacetylase 8
- Gene: RAD21: RAD21 cohesin complex component
- Gene: WNT5A: wingless-type MMTV integration site family member 5A
September 7, 2015
- Condition: factor XIII deficiency
- Condition: retinal arterial macroaneurysm with supravalvular pulmonic stenosis (often shortened to RAMSVPS)
- Gene: F13A1: coagulation factor XIII A chain
- Gene: F13B: coagulation factor XIII B chain
- Gene: IGFBP7: insulin like growth factor binding protein 7
July 27, 2015
July 19, 2015
- Condition: ADCY5-related dyskinesia
- Condition: warfarin resistance
- Gene: ADCY5: adenylate cyclase 5
July 13, 2015
- Is handedness determined by genetics?
- What is newborn screening?
- How is newborn screening done?
- What disorders are included in newborn screening?
- Who pays for newborn screening?
- What happens if a newborn screening test comes back negative?
- What happens if a newborn screening test comes back positive?
July 6, 2015
- Condition: Sheldon-Hall syndrome
- Gene: TNNI2: troponin I type 2 (skeletal, fast)
- Gene: TNNT3: troponin T type 3 (skeletal, fast)
June 15, 2015
- Condition: MyD88 deficiency
- Condition: warfarin sensitivity
- Condition: X-linked intellectual disability, Siderius type
- Gene: CYP2C9: cytochrome P450 family 2 subfamily C member 9
- Gene: PHF8: PHD finger protein 8
- Gene: VKORC1: vitamin K epoxide reductase complex subunit 1
June 1, 2015
- Condition: autosomal recessive congenital methemoglobinemia
- Condition: multiple mitochondrial dysfunctions syndrome
- Gene: BOLA3: bolA family member 3
- Gene: CYB5R3: cytochrome b5 reductase 3
- Gene: DYNC2H1: dynein, cytoplasmic 2, heavy chain 1
- Gene: NFU1: NFU1 iron-sulfur cluster scaffold
May 25, 2015
- Condition: chronic atrial and intestinal dysrhythmia
- Gene: SGOL1: shugoshin-like 1 (S. pombe)
May 18, 2015
- Are fingerprints determined by genetics?
- Is eye color determined by genetics?
- Is intelligence determined by genetics?
- Condition: Erdheim-Chester disease
- Gene: MEOX1: mesenchyme homeobox 1
May 11, 2015
- Condition: primary macronodular adrenal hyperplasia(often shortened to PMAH)
- Gene: ARMC5: armadillo repeat containing 5
May 4, 2015
- Gene: FAM83H: family with sequence similarity 83 member H
April 28, 2015
- What is precision medicine?
- What is the difference between precision medicine and personalized medicine? What about pharmacogenomics?
- What is the Precision Medicine Initiative?
- What are some potential benefits of precision medicine and the Precision Medicine Initiative?
- What are some of the challenges facing precision medicine and the Precision Medicine Initiative?
- Condition: adermatoglyphia
- Condition: congenital bile acid synthesis defect type 1
- Condition: congenital bile acid synthesis defect type 2
- Condition: congenital mirror movement disorder
- Condition: progressive familial heart block
- Condition: prostate cancer
- Gene: AKR1D1: aldo-keto reductase family 1, member D1
- Gene: DCC: DCC netrin 1 receptor
- Gene: HOXB13: homeobox B13
- Gene: HSD3B7: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
- Gene: SMARCAD1: SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
- Gene: TRPM4: transient receptor potential cation channel subfamily M member 4
April 20, 2015
- Condition: spastic paraplegia type 31
- Gene: REEP1: receptor accessory protein 1
April 13, 2015
- Condition: globozoospermia
- Condition: Laron syndrome
- Condition: moyamoya disease
- Gene: DPY19L2: dpy-19 like 2 (C. elegans)
- Gene: GHR: growth hormone receptor
- Gene: RNF213: ring finger protein 213
April 6, 2015
- Condition: fibronectin glomerulopathy
- Condition: thiopurine S-methyltransferase deficiency
- Gene: FN1: fibronectin 1
- Gene: TPMT: thiopurine S-methyltransferase
March 30, 2015
- Condition: Waldenström macroglobulinemia
- Gene: CXCR4: chemokine (C-X-C motif) receptor 4
- Gene: MYD88: myeloid differentiation primary response 88
March 23, 2015
- Condition: pulmonary veno-occlusive disease
- Gene: EIF2AK4: eukaryotic translation initiation factor 2 alpha kinase 4
March 16, 2015
- Condition: isolated ectopia lentis
- Gene: ADAMTSL4: ADAMTS like 4
- Gene: HEPACAM: hepatic and glial cell adhesion molecule
- Gene: MAP3K1: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
- Gene: TRIP11: thyroid hormone receptor interactor 11
March 10, 2015
- Condition: Bowen-Conradi syndrome
- Gene: EMG1: EMG1 N1-specific pseudouridine methyltransferase
March 2, 2015
- Condition: Hajdu-Cheney syndrome
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