Molecular Pathology Timeline (Copy)

OSU Molecular Pathology

Lab Opens

Feb 1990

First DMD Carrier Study by PCR

jun 1990

First publication on African American DMD polymorphisms

jan 1992

Demonstrated Germline Mosaicism in DMD Carrier

mar 1992

First Missense Mutation in DMD

Jun 1993

First whole gene point mutation screen in DMD published

jun 1995

Discovered SMN Point Mutation

jun 1996

Whole gene screen of SMN cmpd heteros

jun 1998

First clinical lab to offer PTEN sequencing

oct 2000

Conclusive proof of 2 copy cis chromosome for SMN1

jun 2001

Family Studies for HNPCC for Columbus Population

jun 2005

Pilot Study of 40000 blood spots for Newborn screening for SMA completed

Jun 2008

Identified Buckeye Variant as SMN positive modifier

jun 2009

Pilot Study for SMA Carrier Testing Completed

Jun 2010

FLT3 Clinical Trial Completed

nov 2011

Molecular Milestones

Sanger Sequencing

jan 1975

Southern Developed

Feb 1975

PCR

dec 1986

Microarray

jan 1995

Capillary Electrophoresis

jun 1995

GenBank exceeds a billion bases

jun 1997

Human Genome Project published

jan 2001

Ensembl

Jan 2004

Next Gen Sequencing

jan 2005

HapMap Project

oct 2005

Junk DNA "de-junked"

jun 2012

New Testing

DMD Diagnostic

2/27/1990

DMD Carrier

3/20/1990

Cystic Fibrosis

7/31/1990

Dystrophin Western

jun 1991

MERRF, MELAS

11/5/1991

Kennedy Syndrome

12/18/1991

Fragile X

1/28/1992

Myotonic Dystrophy

10/27/1992

BCL2

9/22/1993

Huntington's Disease

9/23/1993

Kearns-Sayre Syndrome

11/2/1993

Factor V

1/26/1995

Spinal Muscular Atrophy

8/2/1995

Leber's Hereditary Optic Neuropathy

9/18/1995

Mitochondrial Panel

9/25/1995

Expansion of MERRF/MELAS

Maternal Contamination by VNTR

1/4/1996

NARP

2/2/1996

MTHFR

6/3/1996

Hepatitis C

7/2/1996

SMA Dosage (Carrier)

11/13/1996

Hemochromatosis

12/13/1996

Skeletal Dysplasia

1/17/1997

Ret-Proto-oncogene (MEN2)

3/14/1997

Thanatophoric Dysplasia

9/24/1997

t(8:21) and inv(16)

10/21/1997

Prothrombin

8/31/1998

bcrabl - t(9:22)

9/8/1998

t(15:17)

12/3/1998

Medium Chain Acyl CoA mutation

3/11/1999

PTEN Gene Characterization

10/24/2000

SMAD4 Gene Characterization

6/29/2001

LKB1 Gene Characterization

3/19/2002

BMPR1A Gene Characterization

10/29/2002

ARX Gene Characterization

6/30/2006

Cmpd Hetero SMN Sequencing

2/13/2007

FLT3

7/3/2007