Pre-clinical trial for Alpelisib

CanFite Biopharma announces development of Piclidenoson

Naples Italy International Research meeting

LSA hosts zoom caregiver sessions

17th International Conference

LSA hosts international LS research symposium

LSA partners with Coordination of Rare Diseases at Sanford (CoRDS) registry program at Sanford University, Sioux Falls, SD.

LSA awards $25,000 second year grant to Brandeis University, MA researcher.

LSA partners with Rare Kidney Stone Consortium disease registry based at Mayo Clinic, MN.

LSA awards a $25,000 grant to Yale University, CT researcher.

LSA celebrates the 1st anniversary of the 4th edition of theLiving with Lowe syndrome, A Guide for families and Professionals.

LSA families participate in 3rd phase of a behavioral study

“The Cross System Research Program” conducted by the University of Birmingham, United Kingdom to further understand the behavioral characteristics or people with Lowe syndrome and how these characteristics develop and change as people get older.

LSA enters into five year licensing agreements with Lowe syndrome organizations from Italy, AISLO, France, ASI and the United Kingdom LST to translate the Living with Lowe syndrome, A Guide for Families and Professionals.

The 4th edition of The Living with Lowe syndrome, A Guide for Family and Professionals is complete and tripled in size from its original edition published in 1987. Over 350 free copies mailed to LSA parents, LSA medical board along with various international agencies and organizations.

12th International Conference on Lowe syndrome was held in Oak Brook, Illinois. 187 people representing 60 families and medical, scientific and education professionals participated. 5 new families attended their first conference and 10 families were assisted by the conference scholarship fund. 40 boys / young men with Lowe syndrome attended with their families

LSA awards a $25,000 grant to Brandeis University, MA researcher.

The report on the 2008 Comprehensive Survey of Lowe syndrome is published.

LSA co-sponsors the 49th American Society of Cell Biology (ASCB) in San Diego, a satellite meeting at, to present recent findings on the Cell Biology of Oculocerebrorenal Syndrome with the Lowe syndrome Trust.

Extensive revision to the 3rd edition of the Living with Lowe syndrome, A Guide for Families andProfessionals book begins.

The written portion of the 2008 Comprehensive Survey.

The analysis of the 2008 Comprehensive Survey of Lowe syndrome is complete.

LSA awards $5000 grant to GeneDx, MD for use in Molecular Testing for OCRL.

LSA awards $4000 grant to Baylor College of Medicine, Houston to continue support of OCRL full sequencing and OCRL enzyme tests.

LSA moves the telephone number to Texas.

LSA awards $25,000 grant to CT researcher to conduct Phase II of the 2008 Comprehensive Survey on Lowe syndrome – Analysis and Report

The 2008 Comprehensive Survey of Lowe syndrome data entry portion of the on-line survey closed on January 31st with 137 (78.3%) participants completing their extensive survey.

Invitations to participate in the online 2008 Comprehensive Survey of Lowe syndrome went out to 175 participates.

AISLO volunteers begin Italian translation of 2008 Comprehensive Survey on Lowe syndrome to enable their family members to participate in the LSA funded on-line survey.

LSA awards second year grant of $25,000 to the University of Pittsburgh researcher.

LSA awards second year grant of $25,000 to Yale University researcher.

LSA celebrates 25 years!

11th International Conference on Lowe syndrome held in Orlando, Florida. 196 people representing 60 families and medical, scientific and education professionals participated. 9 new families attended their first conference and 9 families were assisted by the conference scholarship fund. 42 boys / young men with Lowe syndrome attended with their families. The LSA held a celebration to commemorate the 25th anniversary of the LSA and presented a special tribute to LSA Founder, Kaye McSpadden. In addition, Dr. Richard Lewis and Dr. Robert Nussbaum were presented with Legacy Awards.

LSA awards $24,000 grant to CT researcher for 2008 Comprehensive Survey on Lowe syndrome.

Phase I: Development and Design of the 2008 Comprehensive Survey of Lowe syndrome begins. The main goal of the survey is to update the 2000, 3rd edition of the Living with Lowe syndrome book.

LSA Survey Team lead by Dr. Zelig Dolinsky, Debbie Jacobs, LSA President, Christine Knight, Director, MSAB, Jeff Smith, LSA Board member, Ben Knight, LSA parent and numerous LSA parent volunteers conduct the first phase of the 2008 Survey – The Ranking Study to determine which body sections will be updated from the original 1990 Study.

LSA Board of Directors appoints, Christine Knight Director, Medical and Scientific Advisory Board.

LSA Board of Directors vote to fund the research project to update to the 1990 Comprehensive Survey on Lowe syndrome.

Ann Keefer, LSA Treasurer resigns after serving 5 years.

Jane Gallery appointed by the Board of Directors to continue Treasurer duties.

LSA President, Debbie Jacobs, is a guest speaker at the International Conference on Lowe syndrome in Formignana (FE), Italy sponsored by the Italian Lowe syndrome Organization, AISLO.

LSA awards $20,000 grant to the University of Pittsburgh researcher.

LSA awards $20,000 grant to Yale University researcher.

New Zealander, Rob Thomson, travels the world to raise donations for LSA by skateboarding and cycling.

After 24 years of dedication, LSA Founder, Kaye McSpadden, completes her last board term and is awarded Honorary board member status.

Historic LSA Clinical Database exploration meeting at Mayo Clinic, Rochester, MN.

Awareness bracelet designed exclusively for LSA fundraising.

Annual Family Directory includes 246 families from the U.S. and 27 other countries.

10th International Conference on Lowe syndrome held in San Diego, California. 174 people participated from 32 different states and 4 different countries. 18 new families attended their first conference and 8 families were assisted by the first-ever conference scholarship fund. 34 boys and young men with Lowe syndrome attended with their families.

Fiona Fisher, Scotland becomes the first international LSA board member.

First car is donated to the LSA through the “Donate your Car” program.

Debbie Jacobs elected fifth President of the LSA.

LSA awards first ever International grant of $25,000 to researcher in Italy. LSA families participate in 2 nd phase of a behavioral study “The Cross System Research Program” conducted by the University of Birmingham, United Kingdom.

Annual Family Directory includes 240 families from the U.S. and 26 other countries

LSA receives donation of first ever LSA color promotional brochure from Goodway Technologies Corp. NIH researchers report startling discovery that several confirmed cases of Lowe syndrome occurred in individuals who did not have cataracts.

Historic “Changing of the Guard” takes place after 20 years. LSA address changes and headquarters move to Texas while the LSA telephone number moves to Minnesota.

First-ever, LSA conference scholarship fund begins with funds from the “Cartridges for Kids” recycle program.

“On the Beam” gets a makeover from a professional graphics designer.

LSA moves its web and list serv services to Total Choice.Com.

Parent Directory changes its name to Family Directory and includes 228 families from the U.S. and 25 other countries.

9th International Conference held in Minneapolis. Minnesota. 152 people participated from 23 different states and 4 different countries. 31 boys and young men with Lowe syndrome attended with their families.

LSA families participate in first phase of a behavioral study “The Cross System Research Program” conducted by the University of Birmingham, United Kingdom.

Annual Parent Directory includes 218 families from the U.S. and 19 other countries. LSA awards $25,000 grant to Utah molecular biologists.

Mary Tietz elected fourth President of the LSA. The Medical & Scientific Advisory Board (MSAB), and Board of Directors, took exploratory steps toward the establishment of a clinical database project.

1st-ever clinical research workshop entitled “Lowe syndrome: Clinical Challenges and Solutions” takes place at the NIH bringing together distinguished physicians from all over the U.S. and several other countries.

Annual Parent Directory includes 219 families from the U.S. and 19 other countries. 2nd LSA Comprehensive Survey Project is published.

8th International Conference held in Oak Brook, Illinois. 188 people participated from 25 different states and 4 different countries. The first ever LSA Friendship Quilt made by Fiona Fisher from Scotland using quilt squares made by LSA parents.

LSA awards two $30,000 grants to biomolecular researchers.

New brochure published to promote LSA medical research fund.

Annual Parent Directory includes 209 families from the U.S. and 19 other countries.

First-ever gathering of Lowe syndrome families takes place in Italy, leading to the formation of AISLO. LSA Living with Lowe syndrome booklet published in Italian.

Income for the year exceeds $100,000 for the first time.

First-ever scientific meeting on Lowe syndrome enzyme held at NIH. New newsletter published, “Going On: Living with the Loss of a Loved One with Lowe syndrome.”

7th International Conference held in Atlanta, Georgia. 215 people participated, including 49 families with 42 boys with Lowe syndrome. Jane Gallery elected third LSA president.

LSA awards three medical research grants to biomolecular and genetic researchers. Total amount awarded: $45,000.

LSA joins the Brain and Tissue Bank for Developmental Disorders at the University of Maryland.

LSA establishes credit merchant account in order to accept donations and payments by credit card.

Biochemical prenatal test is made available.

6th International Conference held in Andover, Massachusetts. LSA membership includes 175 families.

LSA Web page established.

The Baylor College laboratory offers the world first-ever Lowe syndrome biochemical diagnostic test. LSA-Talk, an e-mail discussion list for LSA members, is established.

5th International Conference held in Anaheim, California. Dr. Robert Nussbaum presented with Medical Research Award for discovery of enzyme deficiency.

Parent membership lists 127 families from the U.S. and six other countries.

Dr. Robert Nussbaum announces major discovery that the cause of Lowe syndrome is an enzyme deficiency.

Revised edition of booklet is published with grant from Allergan. Bookmark-style publication with “Question & Answers” about Lowe syndrome also published.

Changes at NIH result in cancellation of the Lowe syndrome clinical research project. Dr. Lawrence Charnas leaves NIH. LSA awards $5000 research grant to Dr. Charnas to enable him to continue work on project in new location. LSA also awards $6000 to Dr. Lorraine Racusen for her proposal to develop renal tubule cell lines for Lowe syndrome research projects.

2nd LSA president, Judy Dinofrio, completes 3-year term. Candy Smith elected new president. Candy undertakes project of revising Living with Lowe syndrome booklet.

LSA decides to change terminology from Lowe’sSyndrome Associationto Lowe syndrome Association.

4th International Conference held in Downers Grove, Illinois. LSA presents Medical Research Awards to Drs. Lewis and Nussbaum for the gene discovery and to Dr. Charnas for his work with the groundbreaking NIH study.

Dr. Robert Nussbaum and Dr. Richard Lewis announce in Nature that they have isolated and identified the gene that causes Lowe syndrome.

Parent directory lists 108 families from 32 states and 3 other countries.

3rd International Conference on Lowe’s Syndrome held in Oak Brook, Illinois. 115 adults and 25 children with Lowe’s syndrome attend. One highlight of the program is the presentation of the preliminary results of the new Intellectual and Behavioral Assessment component of the NIH research project.

Final report of the LSA Comprehensive Survey Project is published.

Judy Dinofrio is elected new president. She and the Board plan for smooth leadership transition, including the development of new committee guidelines and organizational procedures. Total income for the year is almost $22,000.

Zel Dolinsky, Ph.D., presents results of behavior section from LSA Comprehensive Survey Project at the Behavioral Phenotypes Study Group Symposium in Wales. By the end of the year, more people are involved in different leadership roles, including membership, newsletter editor, and newsletter production.

Families affected by Lowe syndrome meet in Crewe, England, at the Parents Conference sponsored by the Research Trust for Metabolic Diseases in Children.

Three LSA members attend National Conference on Peer Support Training in Washington, DC.

Regional support network developed.

Workshop on Behavior Problems in Lowe’s Syndrome held in Wilkes Barre, Pennsylvania, featuring presentations by physicians, teachers, and the Comprehensive Survey team.

LSA awards second medical research grant in the amount of $7000 to continue support of gene research project of Dr. Richard Lewis.

Total LSA membership is 270, including 105 families. Kaye McSpadden announces desire to step down from presidency. Board begins to plan for leadership transition.

Comprehensive survey questionnaires sent out. Committee begins to analyze results.

2nd International Conference held in Oak Brook, Illinois, with 100 participants from 22 states, England, and Japan. Program features preliminary results of NIH study presented by Dr. Lawrence Charnas. LSA awards 1st medical research grant for $5000 to support Dr. Richard Lewis’s project in gene research.

NIH announces plans to begin long-term comprehensive clinical study of Lowe’s syndrome. LSA families asked to participate.

5th Parent Directory lists 61 families. Total membership is over 200. Total contributions for 1987: $9316. $5000 earmarked for medical research. Research grant guidelines developed and Request for Proposals sent out.

LSA publishes most comprehensive guide ever written on the subject of Lowe’s syndrome, Living with Lowes Syndrome. Grant from Willen Drug Co. Supports the project. Over 1500 copies are mailed out internationally.

LSA produces slide show/videotape with donated assistance of Indianapolis media expert.

Dr. Richard Lewis announces that results of research may make gene analysis possible for some families. Published research article mentions LSA and LSA families.

LSA publishes new brochure and membership form, Care Today… Cure Tomorrow.

1st International Conference on Lowe’s Syndrome held in Indianapolis, bringing together some 75 family members, professionals and friends from 14 states, Japan and England.

Dr. Richard Lewis announces the accomplishment of the regional mapping of the Lowe’s syndrome gene on the X-chromosome. LSA awards Dr. Richard Lewis and Dr. Robert Nussbaum 1st LSA Medical Research Award. LSA establishes Scientific Advisory Committee, a group of distinguished physicians and scientists.

LSA board developed and adopted new logo and slogan: “Care today… cure tomorrow.”

LSA incorporates and establishes Board of Directors and adds additional purpose to by-laws: to encourage, assist and support medical research concerned with the cause, cure, prevention and/or improved treatment of Lowe syndrome.

Plans for international conference to be held in Indianapolis in 1986 announced. Eight member planning committee meets for first time in Chicago. Total contributions for 1985: $2699.

LSA president and two members attend National Genetics Support Groups Symposium in Washington DC. New ideas gained from symposium will lead to re-organization of LSA and 1st international meeting.

Contact with Dr. Richard Lewis at Baylor College of Medicine established. Gene mapping project begins with participation of LSA families.

LSA plans to co-sponsor national Lowe syndrome meeting in Philadelphia fall through.

1st LSA Parent Directory lists 15 families. Total LSA membership of 63. Group sets goal of sponsoring national meeting. Publishes and disseminates brochure, Lowe’s Syndrome Association, providing information on the syndrome and the organization. Total amount of contributions for 1983: $672.

LSA newsletter title changes to On the Beam. LSA receives non-profit tax-exempt status from IRS.

LSA formally organized as Lowe’s Syndrome Association.Articles of Association state four main purposes: to foster communication among families, promote a better understanding of the syndrome, provide information, and encourage research.

1st LSA newsletter published, Lowe’s Syndrome Family Newsletter.

Kaye McSpadden writes letter to Exceptional Parent magazine and makes contact with six families.